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    HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 [ Homo sapiens (human) ]

    Gene ID: 3119, updated on 22-May-2013
    Official Symbol
    HLA-DQB1provided by HGNC
    Official Full Name
    major histocompatibility complex, class II, DQ beta 1provided by HGNC
    Primary source
    HGNC:4944
    Locus tag
    DADB-249P12.2
    See related
    Ensembl:ENSG00000179344; HPRD:05054; MIM:604305; Vega:OTTHUMG00000031124
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IDDM1; CELIAC1; HLA-DQB
    Summary
    HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
    Location :
    6p21.3
    Sequence :
    Chromosome: 6; NC_000006.11 (32627241..32634466, complement)
    See HLA-DQB1 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DR beta 1 Neighboring gene major histocompatibility complex, class II, DQ alpha 1 Neighboring gene MT-CO3 pseudogene 1 Neighboring gene major histocompatibility complex, class II, DQ alpha 2

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts. Duggal P, et al. Ann Intern Med, 2013 Feb 19. PMID 23420232.
    2. Anti-IFN-γ autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection. Chi CY, et al. Blood, 2013 Feb 21. PMID 23243276.
    3. Diabetic ketoacidosis at diagnosis: role of family history and class II HLA genotypes. Marigliano M, et al. Eur J Endocrinol, 2013 Jan. PMID 23065995.
    4. HLA class II is a factor in cardiovascular morbidity and mortality rates in patients with type 1 diabetes. Söderlund J, et al. Diabetologia, 2012 Nov. PMID 22898764.
    5. Influence of HLA DQ 2/8 genotypes in predisposing type 1 diabetes in siblings of a Saudi family with paternally inherited chromosomal translocations. Cherian MP. J Pediatr Endocrinol Metab, 2012. PMID 22876559.

    See all (1256) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Anti-IFN-gamma autoantibodies may play a critical role in the pathogenesis of nontuberculous mycobacterial infections and reactivation of latent varicella-zoster virus infection and are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02.
      Title: Anti-IFN-γ autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection.
    2. we have shown that IL-28B and HLA class II are independently and unequivocally associated with spontaneous resolution of HCV infection and SNPs marking IL-28B and DQB1*03:01 may explain approximately 15% of spontaneous resolution
      Title: Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.
    3. The study suggests that HLADQB1 genes play important roles in H. pylori infection, but there was no statistically significant association between HLA-DQB1 haplotypes and H.pylori infection in the Lombok Indonesian population.
      Title: Association between HLA-DQ genotypes and haplotypes vs Helicobacter pylori infection in an Indonesian population.
    4. The (DR1/10)-DQB1*05:01 haplotype and the (DR1/10)-DQB1*05:01/DRB1*04:01-DQB1*03:02 genotype are independently associated with cardiovascular events and death in Finnish type 1 diabetic patients.
      Title: HLA class II is a factor in cardiovascular morbidity and mortality rates in patients with type 1 diabetes.
    5. The frequencies of HLA-DRB1*16 and HLA-DQB1*05 as well as the association HLA-DRB1*16/HLA-DQB1*05 were significantly increased in ADEM population compared to the control group.
      Title: Does HLA Class II haplotype play a role in adult acute disseminated encephalomyelitis? Preliminary findings from a Southern Italy hospital-based study.
    6. association between HLA DQB1 genotypes and the presence of diabetic ketoacidosis at diabetes onset was explored. a very young age was consistently associated with a higher risk of DKA at diagnosis.
      Title: Diabetic ketoacidosis at diagnosis: role of family history and class II HLA genotypes.
    7. The study suggests that HLA-DRB1*1501 and HLA-DQB1*0301 may influence the immune response to specific tumor and HPV-encoded epitopes and affect the risk of Kazakh esophageal squamous cell carcinoma in XinJiang, China.
      Title: HLA-DRB1*1501 and HLA-DQB1*0301 alleles are positively associated with HPV16 infection-related Kazakh esophageal squamous cell carcinoma in Xinjiang China.
    8. The presence of DQB1*06:02 and not DRB1*15:01 was associated with narcolepsy in Chinese patients. Also, DRB1*15:01 has no effect on narcolepsy susceptibility in the absence of DQB1*06:02.
      Title: HLA-DQ association and allele competition in Chinese narcolepsy.
    9. HLA-DQB1 allele was significantly associated with multiple sclerosis disease severity.
      Title: The influence of the HLA-DRB1 and HLA-DQB1 allele heterogeneity on disease risk and severity in Iranian patients with multiple sclerosis.
    10. DRB1 and DQB1 loci are associated with type 1 diabetes mellitus in Iranians.
      Title: The influence of the HLA-DRB, HLA-DQB and polymorphic positions of the HLA-DRβ1 and HLA-DQβ1 molecules on risk of Iranian type 1 diabetes mellitus patients.
    Submit: New GeneRIF Correction See all (297)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Celiac disease

    Summary from GeneReviews: Celiac Disease Go to GeneReviews

    Disease Characteristics
    Celiac disease is a systemic immune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron-deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than nonclassic celiac disease, characterized by absence of gastrointestinal symptoms.
    Diagnosis Testing
    The diagnosis of celiac disease relies on characteristic histologic findings on small-bowel biopsy and clinical and/or histologic improvement on a gluten-free diet. Most individuals with celiac disease have celiac disease-associated antibodies and specific pairs of allelic variants in two HLA genes, HLA-DQA1 and HLA-DQB1. Because 30% of the general population has one of the celiac disease-associated HLA alleles and only 3% of individuals with one or both of these alleles develop celiac disease, presence of celiac disease-associated HLA alleles is not diagnostic of celiac disease; however, their absence essentially excludes a diagnosis of celiac disease.
    Genetic Counseling
    Celiac disease is a multifactorial disorder resulting from the interaction of HLA-DQA1 and HLA-DQB1 gene variants known to be associated with celiac disease susceptibility, less well-recognized variants in non-HLA genes, gliadin (a subcomponent of gluten), and other environmental factors. Some empiric risk data are available for at-risk relatives.
    References

    Jakob-Creutzfeldt disease

    Summary from GeneReviews: Genetic Prion Diseases Go to GeneReviews

    Disease Characteristics
    Genetic prion diseases generally manifest with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. Familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Straussler-Scheinker (GSS) syndrome, and fatal familial insomnia (FFI) represent the core phenotypes of genetic prion disease. Note: A fourth clinical phenotype, known as Huntington disease like-1 (HDL-1) has been proposed, but this is based on a single report, and the underlying pathologic features would categorize it as a GSS. Although it is clear that these three subtypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset ranges from the third to ninth decade of life. The course ranges from a few months to several years (typically five to seven years; in rare instances, >10 years). Death generally results from infection, either by pneumonia (typically from aspiration) or urosepsis.
    Diagnosis Testing
    PRNP is the only gene in which mutation is known to cause genetic prion disease. The presence of a PRNP mutation is necessary to establish the diagnosis of genetic prion disease in a symptomatic individual. Sequence analysis of the PRNP is available on a clinical basis; it is possible that this test method does not detect all disease-causing mutations; thus, the absence of a PRNP disease-causing mutation does not rule out the diagnosis of genetic human prion disease.
    Genetic Counseling
    Genetic prion disease is inherited in an autosomal dominant manner. Most individuals diagnosed with genetic prion disease have an affected parent. However, a proband with genetic prion disease may have the disorder as the result of a de novo gene mutation. The proportion of cases caused by de novo gene mutations is unknown. Each child of an individual with a disease-causing PRNP mutation has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk of having a PRNP mutation is available on a very limited basis.
    References

    Multiple sclerosis susceptibility

    Summary from GeneReviews: Multiple Sclerosis Overview Go to GeneReviews

    Disease Characteristics
    Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years; it may develop in children and has also been identified in persons over age 60 years. Women are affected approximately twice as often as men. The most common clinical signs and symptoms, occurring in isolation or in combination, include sensory disturbance of the limbs (~30%), partial or complete visual loss (~15%), acute and subacute motor dysfunction of the limbs (~13%), diplopia (7%), and gait dysfunction (5%). The course may be relapsing-remitting or progressive, severe or mild, and may involve the entire neuroaxis in a widespread fashion or predominantly affect the spinal cord and optic nerves. The four clinical phenotypes of MS are: relapsing-remitting MS (RR-MS) (initially occurring in more than 80% of individuals with MS); primary progressive MS (PP-MS) (occurring in 10%-20% of individuals with MS); progressive relapsing MS (PR-MS) (a rare form); and secondary progressive MS (SP-MS), to which approximately half of all persons diagnosed with RR-MS convert within a decade after the initial diagnosis.
    Diagnosis Testing
    Multiple sclerosis is primarily a clinical diagnosis. The RR-MS phenotype is diagnosed in individuals who have (1) at least two clinical attacks (each lasting >/=24 hours and separated by >/=1 month) or a slow, progressive course for at least six months, and (2) lesions in more than one area or functional system of the brain or spinal cord. Diagnostic criteria for PP-MS include a minimum period of clinical progression of at least 12 months and onset between age 25 and 65 years; three proposed categories include definite PP-MS, probable PP-MS, and possible PP-MS. More recent diagnostic criteria specifically integrate MRI with clinical and paraclinical methods.
    Genetic Counseling
    Available data suggest that multiple sclerosis is inherited as a complex multifactorial disorder that results from the interaction of genetic and environmental factors. Estimated risk to the sibs of a proband is 3.0%-5.0%, increasing to 29.5% if one or both parents have MS. Risk to the offspring of a person with MS is 2.0%-3.0% and higher if both parents have MS.
    References

    NHGRI GWAS Catalog

    show more
    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein env Processing of HIV-1 gp160 to gp120 and gp41 is necessary for the association of HIV-1 envelope glycoproteins with class II MHC PubMed
    Envelope surface glycoprotein gp120 env Amino acid residues 42-49 in the V1 region of CD4 are involved in the interaction between HIV-1 gp120 and class II major histocompatibility complex molecules PubMed
    env HIV envelope protein gp120 can specifically inhibit CD4-dependent class II MHC-restricted T cell response to Ag PubMed
    Envelope transmembrane glycoprotein gp41 env Soluble HIV-1 gp41 enhancement effects on MHC class I and II antigen expression can be inhibited by soluble gp41-binding proteins of 45, 49 and 62 kD from human B cells PubMed
    env Soluble HIV-1 gp41 can selectively enhance MHC class I and II expression on human B cells, but does not increase expression of other cell surface antigens such as CD21 and CD54 (ICAM-1) PubMed
    env A 43-amino-acid sequence between amino acids 708 and 750 in the HIV-1 gp41(TM) cytoplasmic tail is required for efficient incorporation of HLA class II proteins into virions PubMed
    Gag, Pr55 gag HIV-1 Gag virus-like particles efficiently activate human monocyte-derived dendritic cells (MDDC) and induce MDDC maturation with an associated increase in the surface expression of CD80, CD86 and MHC classes I and II PubMed
    gag Two peptides of the CA domain of HIV-1 Gag, VDRFYKTLRAEQASQ and DRFYKLTRAEQASQ, are presented on MHC II molecules of dendritic cells and have similar sensitivity for antigen-specific T cells PubMed
    gag HIV-1 Gag virus-like particle-induced monocyte activation is shown by upregulation of molecules involved in antigen presentation (MHC II, CD80, CD86) and cell adhesion (CD54) PubMed
    Nef, p27 nef HIV-1 group N and group O Nef alleles only weakly downregulate CD4, CD28, and class I and II MHC molecules PubMed
    nef Expression of patient-derived HIV-1 nef alleles downregulates MHC-II cell surface expression in activated CD4+ T cells PubMed
    nef HIV-1 Nef expression inhibits MHC II presentation of viral antigens in infected antigen-presenting cells PubMed
    nef Nef-triggered MHCII endocytosis requires Rab5 activity and lyst function, whereas lysosomal trafficking of internalized MHCII molecules requires Rab7 activity PubMed
    Tat, p14 tat HIV-1 Tat downregulates expression of MHC class II genes in antigen-presenting cells (APC) by inhibiting the transactivator of MHC class II genes, CIITA PubMed
    Vpu, p16 vpu HIV-1 Vpu interacts with CD74 and modulates MHC II in HIV-1-infected cells PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P01918 P01730 CD4    HPRD  PubMed  
    P01918 P04233 CD74    HPRD  PubMed  
    P01918 P01906 HLA-DQA2    HPRD  PubMed  
    P01918 P01308 INS    HPRD  PubMed  
    BioGRID:109364 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
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    • Allograft rejection, organism-specific biosystem (from KEGG)
      Allograft rejection, organism-specific biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Allograft rejection, conserved biosystem (from KEGG)
      Allograft rejection, conserved biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Antigen processing and presentation, organism-specific biosystem (from KEGG)
      Antigen processing and presentation, organism-specific biosystem
      Antigen processing and presentation
    • Antigen processing and presentation, conserved biosystem (from KEGG)
      Antigen processing and presentation, conserved biosystem
      Antigen processing and presentation
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    • Asthma, conserved biosystem (from KEGG)
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    • Autoimmune thyroid disease, conserved biosystem (from KEGG)
      Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
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    • Costimulation by the CD28 family, organism-specific biosystem (from REACTOME)
      Costimulation by the CD28 family, organism-specific biosystemOptimal activation of T-lymphocytes requires at least two signals. A primary one is delivered by the T-cell receptor (TCR) complex after antigen recognition and additional costimulatory signals are d...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Downstream TCR signaling, organism-specific biosystem (from REACTOME)
      Downstream TCR signaling, organism-specific biosystemChanges in gene expression are required for the T cell to gain full proliferative competence and to produce effector cytokines. Three transcription factors in particular have been found to play a key...
    • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
      Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Epstein-Barr virus infection, conserved biosystem (from KEGG)
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    • Generation of second messenger molecules, organism-specific biosystem (from REACTOME)
      Generation of second messenger molecules, organism-specific biosystemIn addition to serving as a scaffold via auto-phosphorylation, ZAP-70 also phosphorylates a restricted set of substrates following TCR stimulation - including LAT and SLP-76. These substrates have be...
    • Graft-versus-host disease, organism-specific biosystem (from KEGG)
      Graft-versus-host disease, organism-specific biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • Graft-versus-host disease, conserved biosystem (from KEGG)
      Graft-versus-host disease, conserved biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Herpes simplex infection, organism-specific biosystem (from KEGG)
      Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Herpes simplex infection, conserved biosystem (from KEGG)
      Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
      Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
    • Intestinal immune network for IgA production, organism-specific biosystem (from KEGG)
      Intestinal immune network for IgA production, organism-specific biosystemThe intestine is the largest lymphoid tissue in the body. One striking feature of intestinal immunity is its ability to generate great amounts of noninflammatory immunoglobulin A (IgA) antibodies tha...
    • Intestinal immune network for IgA production, conserved biosystem (from KEGG)
      Intestinal immune network for IgA production, conserved biosystemThe intestine is the largest lymphoid tissue in the body. One striking feature of intestinal immunity is its ability to generate great amounts of noninflammatory immunoglobulin A (IgA) antibodies tha...
    • Leishmaniasis, organism-specific biosystem (from KEGG)
      Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • Leishmaniasis, conserved biosystem (from KEGG)
      Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
      MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
    • PD-1 signaling, organism-specific biosystem (from REACTOME)
      PD-1 signaling, organism-specific biosystemThe Programmed cell death protein 1 (PD-1) is one of the negative regulators of TCR signaling. PD-1 may exert its effects on cell differentiation and survival directly by inhibiting early activation ...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phosphorylation of CD3 and TCR zeta chains, organism-specific biosystem (from REACTOME)
      Phosphorylation of CD3 and TCR zeta chains, organism-specific biosystemPrior to T cell receptor (TCR) stimulation, CD4/CD8 associated Lck remains seperated from the TCR and is maintained in an inactive state by the action of Csk. Csk phosphorylates the negative regulato...
    • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
      Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Rheumatoid arthritis, conserved biosystem (from KEGG)
      Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
      Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    • Staphylococcus aureus infection, conserved biosystem (from KEGG)
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    • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
      Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
    • Systemic lupus erythematosus, conserved biosystem (from KEGG)
      Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
    • TCR signaling, organism-specific biosystem (from REACTOME)
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    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
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    • Translocation of ZAP-70 to Immunological synapse, organism-specific biosystem (from REACTOME)
      Translocation of ZAP-70 to Immunological synapse, organism-specific biosystemThe dual phosphorylated ITAMs recruit Syk kinase ZAP-70 via their tandem SH2 domains (step 4). ZAP-70 subsequently undergoes phosphorylation on multiple tyrosine residues for further activation. ZAP-...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
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    • Type I diabetes mellitus, conserved biosystem (from KEGG)
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    • Viral myocarditis, organism-specific biosystem (from KEGG)
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    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    MHC class II receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    T cell costimulation TAS
    Traceable Author Statement
    more info
    		  
    T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
    Traceable Author Statement
    more info
    		  
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    humoral immune response mediated by circulating immunoglobulin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    immunoglobulin production involved in immunoglobulin mediated immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    MHC class II protein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to lumenal side of endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  
    transport vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    HLA class II histocompatibility antigen, DQ beta 1 chain
    Names
    HLA class II histocompatibility antigen, DQ beta 1 chain
    MHC DQ beta
    MHC class2 antigen
    lymphocyte antigen
    MHC class II antigen DQB1
    MHC class II DQ beta chain
    MHC class II antigen HLA-DQ-beta-1
    MHC class II HLA-DQ beta glycoprotein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029922.1 RefSeqGene

      Range
      5001..12601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243961.1 → NP_001230890.1  HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon in the coding region, compared to variant 1. It encodes isoform 2 which is longer than isoform 1. This transcript represents the DQB1*06:02:01:01 allele of the HLA-DQB1 gene, as represented in the assembled chromosome 6 in the primary assembly of the reference genome.
      Source sequence(s)
      AL662789
      Consensus CDS
      CCDS59006.1
      UniProtKB/TrEMBL
      Q5SU54
      Related
      ENSP00000364080, OTTHUMP00000029167, ENST00000374943, OTTHUMT00000076215
      Conserved Domains (2) summary
      cd05766
      Location:129 – 222
      Blast Score: 430
      IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain
      pfam00969
      Location:45 – 117
      Blast Score: 392
      MHC_II_beta; Class II histocompatibility antigen, beta domain

    2. NM_001243962.1 → NP_001230891.1  HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has the same exon combination as variant 1 but represents the DQB1*02:01:01:01 allele of the HLA-DQB1 gene, as represented in the alternate locus group ALT_REF_LOCI_2 of the reference genome. It encodes isoform 1.
      Source sequence(s)
      AL731683
      UniProtKB/Swiss-Prot
      P01920
      UniProtKB/TrEMBL
      Q5Y7D3
      Conserved Domains (2) summary
      cd05766
      Location:129 – 222
      Blast Score: 442
      IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain
      pfam00969
      Location:45 – 118
      Blast Score: 387
      MHC_II_beta; Class II histocompatibility antigen, beta domain

    3. NM_002123.4 → NP_002114.3  HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and encodes isoform 1. This transcript represents the DQB1*06:02:01:01 allele of the HLA-DQB1 gene, as represented in the assembled chromosome 6 in the primary assembly of the reference genome.
      Source sequence(s)
      AK296613, BF510934, DC409119, M20432, M25327
      Consensus CDS
      CCDS43451.1
      UniProtKB/Swiss-Prot
      P01920
      UniProtKB/TrEMBL
      Q5Y7A9
      UniProtKB/TrEMBL
      Q5Y7D6
      Related
      ENSP00000407332, OTTHUMP00000178569, ENST00000434651, OTTHUMT00000276126
      Conserved Domains (2) summary
      cd05766
      Location:129 – 222
      Blast Score: 433
      IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain
      pfam00969
      Location:45 – 117
      Blast Score: 387
      MHC_II_beta; Class II histocompatibility antigen, beta domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p10 ALT_REF_LOCI_2

      Range
      4072511..4080111, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.1 Reference GRCh37.p10 ALT_REF_LOCI_3

      Range
      3905878..3913122, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p10 ALT_REF_LOCI_4

      Range
      4082534..4090131, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p10 ALT_REF_LOCI_5

      Range
      3961416..3968769, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p10 ALT_REF_LOCI_6

      Range
      3858965..3866565, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p10 ALT_REF_LOCI_7

      Range
      4055993..4063238, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      32627241..32634466, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      32368943..32376157, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      32545003..32552228, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AB002468.1 BAA19528.1
    genomic AB211231.1 BAD95610.1
    genomic ABBA01038127.1 (18295..25509) None
    genomic AF087939.1 AAD39697.1
    genomic AF091305.2 AAC64403.2
    genomic AF093815.1 AAC64605.1
    genomic AF112463.1 AAD23990.1
    genomic AF112464.1 AAD23991.1
    genomic AF181983.2 AAD54423.2
    genomic AF184982.1 AAD56412.1
    genomic AF209127.1 AAF63192.1
    genomic AF307153.1 AAK17120.1
    genomic AF307154.1 AAK17121.1
    genomic AF307155.1 AAK17122.1
    genomic AF307156.1 AAK17123.1
    genomic AF384556.1 AAM53072.1
    genomic AF439338.1 AAL35222.1
    genomic AF463516.1 AAL66389.1
    genomic AF469118.1 AAL77085.1
    genomic AF479569.1 AAM09472.1
    genomic AF506754.1 AAM28883.1
    genomic AJ001256.1 CAA04630.1
    genomic AJ001257.1 CAA04631.1
    genomic AJ012155.1 CAA09928.1
    genomic AJ012156.1 CAA09929.1
    genomic AJ012325.1 CAA09990.1
    genomic AJ223253.1 CAA11215.1
    genomic AJ290396.1 CAC27418.1
    genomic AJ507786.1 CAD47822.1
    genomic AJ535315.2 CAD59445.2
    genomic AJ557776.1 CAD89801.1
    genomic AJ566407.1 CAD97476.1
    genomic AJ854065.1 CAH69441.1
    genomic AJ964903.1 CAI79639.1
    genomic AL662789.11 (71358..78583) None
    genomic AL731683.12 (17738..25339) None
    genomic AL935026.4 (20415..28015) None
    genomic AM181332.1 CAJ57391.1
    genomic AM231062.1 CAJ76977.1
      CAJ76978.1
    genomic AM259941.1 CAJ90955.1
    genomic AM259942.1 CAJ90956.1
    genomic AM279416.1 CAK50560.1
    genomic AM293569.1 CAL25326.1
    genomic AM409256.2 CAL64838.1
    genomic AMYH01016239.1 (235962..243187) None
    genomic AY026349.1 AAK01944.1
    genomic AY036896.1 AAK96012.1
    genomic AY036897.1 AAK96013.1
    genomic AY094140.1 AAM14401.1
    genomic AY124588.1 AAM94360.1
    genomic AY312054.1 AAP78473.1
    genomic AY334565.1 AAP94731.1
    genomic AY375842.1 AAQ88016.1
    genomic AY375843.1 AAQ88017.1
    genomic AY375844.1 AAQ88018.1
    genomic AY375845.1 AAQ88019.1
    genomic AY375846.1 AAQ88020.1
    genomic AY375847.1 AAQ88021.1
    genomic AY375848.1 AAQ88022.1
    genomic AY375849.1 AAQ88023.1
    genomic AY375850.1 AAQ88024.1
    genomic AY375851.1 AAQ88025.1
    genomic AY375852.1 AAQ88026.1
    genomic AY375853.1 AAQ88027.1
    genomic AY375854.1 AAQ88028.1
    genomic AY375855.1 AAQ88029.1
    genomic AY375856.1 AAQ88030.1
    genomic AY375857.1 AAQ88031.1
    genomic AY375858.1 AAQ88032.1
    genomic AY375859.1 AAQ88033.1
    genomic AY375860.1 AAQ88034.1
    genomic AY375861.1 AAQ88035.1
    genomic AY375862.1 AAQ88036.1
    genomic AY375863.1 AAQ88037.1
    genomic AY375864.1 AAQ88038.1
    genomic AY375865.1 AAQ88039.1
    genomic AY375866.1 AAQ88040.1
    genomic AY375867.1 AAQ88041.1
    genomic AY375868.1 AAQ88042.1
    genomic AY375869.1 AAQ88043.1
    genomic AY375870.1 AAQ88044.1
    genomic AY375871.1 AAQ88045.1
    genomic AY375872.1 AAQ88046.1
    genomic AY375873.1 AAQ88047.1
    genomic AY619719.1 AAT39543.1
    genomic AY663393.1 AAU87973.1
    genomic AY663394.1 AAU87977.1
    genomic AY663395.1 AAU87980.1
    genomic AY663396.1 AAU87982.1
    genomic AY663397.1 AAU87986.1
    genomic AY663398.1 AAU87988.1
    genomic AY663399.1 AAU87991.1
    genomic AY663400.1 AAU87994.1
    genomic AY663404.1 AAU88002.1
    genomic AY663405.1 AAU88006.1
    genomic AY663406.1 AAU88009.1
    genomic AY663407.1 AAU88012.1
    genomic AY663408.1 AAU88015.1
    genomic AY663409.1 AAU88017.1
    genomic AY663410.1 AAU88020.1
    genomic AY663411.1 AAU88024.1
    genomic AY663412.1 AAU88027.1
    genomic AY663413.1 AAU88030.1
    genomic AY663414.1 AAU88032.1
    genomic AY663415.1 AAU88036.1
    genomic AY672649.1 AAT77952.1
    genomic AY733062.1 AAU33811.1
    genomic AY762968.1 AAV97949.1
    genomic AY950597.1 AAX22127.1
    genomic AY950598.1 AAX22128.1
    genomic AY950599.1 AAX22129.1
    genomic AY950600.1 AAX22130.1
    genomic AY950601.1 AAX22131.1
    genomic AY950602.1 AAX22132.1
    genomic AY950603.1 AAX22133.1
    genomic AY950604.1 AAX22134.1
    genomic AY950605.1 AAX22135.1
    genomic AY950606.2 AAX22136.1
    genomic AY950607.1 AAX22137.1
    genomic AY950608.1 AAX22138.1
    genomic AY999071.1 AAY33730.1
    genomic AY999072.1 AAY33731.1
    genomic AY999073.1 AAY33732.1
    genomic AY999074.1 AAY33733.1
    genomic AY999075.1 AAY33734.1
    genomic BX248406.4 (36119..43364) None
    genomic BX927168.11 (21698..29295) None
    genomic CH471311.1 EAW50577.1
      EAW50578.1
      EAW50579.1
      EAW50580.1
      EAW50581.1
    genomic CR753846.4 (21560..28804) None
    genomic CR933859.5 (31566..38919) None
    genomic D29918.1 BAA06217.1
    genomic D78569.1 BAA11413.1
    genomic DQ026226.1 AAY89656.1
    genomic DQ114427.1 AAZ20753.1
    genomic DQ179039.1 ABA06597.1
    genomic DQ227421.1 ABB05231.1
    genomic DQ503425.1 ABF50985.1
    genomic DQ503572.1 ABF56580.1
    genomic DQ503573.1 ABF56581.1
    genomic K01499.1 AAA98746.1
    genomic K02405.1 AAA75521.1
    genomic M15809.1 AAA59577.1
    genomic M17958.1 AAA36271.1
    genomic M20332.1 AAA59775.1
    genomic M20333.1 AAA59776.1
    genomic M36472.1 AAA03249.1
    genomic M65038.1 AAA36237.1
    genomic M65039.1 AAA36238.1
    genomic M65040.1 AAA36239.1
    genomic M65041.1 AAA36240.1
    genomic M65042.1 AAA36241.1
    genomic M65043.1 AAA36242.1
    genomic M65044.1 AAA36243.1
    genomic M65046.1 AAA36245.1
    genomic M65047.1 AAA36246.1
    genomic M65048.1 AAA36247.1
    genomic M65049.1 AAA59709.1
    genomic M65050.1 AAA59710.1
    genomic M65051.1 AAA59711.1
    genomic M65052.1 AAA59712.1
    genomic M86740.1 AAA59778.1
    genomic S53999.1 AAB25221.2
    genomic U07848.1 AAB60325.1
    genomic U33329.1 AAA77049.1
    genomic U39086.1 AAA93181.1
    genomic U39089.1 AAB02682.1
    genomic U39090.1 AAB02681.1
    genomic U39809.1 AAD00003.1
    genomic U39821.1 AAD00006.1
    genomic U39822.1 AAD00007.1
    genomic U39825.1 AAD00008.1
    genomic U77344.1 AAB19215.1
    genomic U92032.1 AAB91991.1
    genomic Y10428.1 CAA71450.1
    genomic Y17290.1 CAC19575.1
    genomic Z35099.1 CAA84482.1
    mRNA AB209580.1 BAD92817.1
    mRNA AB209638.1 BAD92875.1
    mRNA AF000447.1 AAB86436.1
    mRNA AF113250.1 AAD17203.1
    mRNA AF195245.1 AAF28315.1
    mRNA AF291674.1 AAK91824.1
    mRNA AK097297.1 None
    mRNA AK295255.1 BAG58244.1
    mRNA AK295476.1 BAG58403.1
    mRNA AK295695.1 BAG58545.1
    mRNA AK296613.1 BAG59223.1
    mRNA AK304543.1 BAG65340.1
    mRNA AK316333.1 BAH14704.1
    mRNA AY656681.1 AAV71028.1
    mRNA AY656682.1 AAV71029.1
    mRNA AY656683.1 AAV71030.1
    mRNA BC012106.1 AAH12106.1
    mRNA BC128595.1 AAI28596.1
    mRNA BF510934.1 None
    mRNA BQ012862.1 None
    mRNA DC409119.1 None
    mRNA DQ136036.1 AAZ67362.1
    mRNA J00198.1 AAA59788.1
    mRNA L34095.1 AAC41963.1
    mRNA L34096.1 AAC41964.1
    mRNA L34097.1 AAC41965.1
    mRNA L34098.1 AAC41966.1
    mRNA L34099.1 AAC41967.1
    mRNA L34100.1 AAC41968.1
    mRNA L34101.1 AAC41969.1
    mRNA L34102.1 AAC41970.1
    mRNA L34103.1 AAC41971.1
    mRNA L34104.1 AAC41972.1
    mRNA L34105.1 AAC41973.1
    mRNA L34106.1 AAC41974.1
    mRNA L34107.1 AAC41975.1
    mRNA L40179.1 AAC41976.1
    mRNA L40180.1 AAA92331.1
    mRNA L40181.1 AAA92332.1
    mRNA L42626.1 AAA85335.1
    mRNA M13279.1 AAA59807.1
    mRNA M14189.1 AAA36268.1
    mRNA M16276.1 AAA59823.1
    mRNA M16996.1 AAA59770.1
    mRNA M17204.1 AAA59698.1
    mRNA M17206.1 AAA59696.1
    mRNA M17207.1 AAA59697.1
    mRNA M17563.1 AAA59764.1
    mRNA M17564.1 AAA59765.1
    mRNA M17565.1 AAA59766.1
    mRNA M17955.1 AAA36269.1
    mRNA M19239.1 AAA52319.1
    mRNA M20432.1 AAA59769.1
    mRNA M20505.1 AAA59773.1
    mRNA M21135.1 AAA59767.1
    mRNA M22549.1 AAA59820.1
    mRNA M22550.1 AAA59821.1
    mRNA M24364.1 AAA36236.1
    mRNA M25024.1 AAA59792.1
    mRNA M25025.1 AAA59793.1
    mRNA M25325.1 AAA59675.1
    mRNA M25326.1 AAA59676.1
    mRNA M25327.1 AAA59677.1
    mRNA M26042.1 AAA36270.1
    mRNA M32577.1 AAA59768.1
    mRNA M33907.1 AAA52672.1
    mRNA M35730.1 AAA59763.1
    mRNA M35982.1 AAA36251.1
    mRNA M57649.1 AAA63217.1
    mRNA M57650.1 AAA63216.1
    mRNA M59800.1 AAA64235.1
    mRNA M59801.1 AAA64234.1
    mRNA M60028.1 AAA59755.1
    mRNA M81140.1 AAA59771.1
    mRNA M81141.1 AAA59772.1
    mRNA S79787.1 AAD14316.1
    mRNA U63321.1 AAB05807.1
    mRNA U66400.1 AAB51698.1
    mRNA U83582.1 AAB41231.1
    mRNA U83585.1 AAC02814.1
    mRNA V00529.1 CAA23788.1
    mRNA X00369.1 None
    mRNA X03068.1 CAA26872.1
    mRNA X96420.1 CAA65280.1
    other-genetic DQ892298.2 ABM83224.1
    other-genetic DQ895497.2 ABM86423.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01920.2 GenPept UniProtKB/Swiss-Prot:P01920

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
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        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
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        Link to related Nucleotide entry
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      • Probe
        Related Probe entry
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        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
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        Related Clinical SNP
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        Link to related taxonomy entry
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        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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