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    ITGB4 integrin, beta 4 [ Homo sapiens (human) ]

    Gene ID: 3691, updated on 15-Jun-2013
    Official Symbol
    ITGB4provided by HGNC
    Official Full Name
    integrin, beta 4provided by HGNC
    Primary source
    HGNC:6158
    See related
    Ensembl:ENSG00000132470; HPRD:00946; MIM:147557; Vega:OTTHUMG00000179814
    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
    CD104
    Summary
    Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Location :
    17q25
    Sequence :
    Chromosome: 17; NC_000017.10 (73717516..73753899)
    See ITGB4 in Epigenomics

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene RecQ protein-like 5 Neighboring gene small integral membrane protein 6 Neighboring gene SAP30 binding protein Neighboring gene galactokinase 1 Neighboring gene H3 histone, family 3B (H3.3B)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. β4 Integrin signaling induces expansion of prostate tumor progenitors. Yoshioka T, et al. J Clin Invest, 2013 Feb 1. PMID 23348745.
    2. Critical role of S1PR1 and integrin β4 in HGF/c-Met-mediated increases in vascular integrity. Ephstein Y, et al. J Biol Chem, 2013 Jan 25. PMID 23212923.
    3. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    4. Expression of laminin-5 and integrins in actinic cheilitis and superficially invasive squamous cell carcinomas of the lip. Peixoto da-Silva J, et al. Pathol Res Pract, 2012 Oct 15. PMID 22917688.
    5. The calcium/calcineurin pathway promotes hemidesmosome stability through inhibition of β4 integrin phosphorylation. Kashyap T, et al. J Biol Chem, 2012 Sep 21. PMID 22865863.

    See all (175) 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. Mechanistic studies indicated that mutant ITGB4 fails to promote transactivation of ErbB2 and c-Met in prostate tumor progenitor cells and cancer cell lines.
      Title: β4 Integrin signaling induces expansion of prostate tumor progenitors.
    2. S1PR1 and ITGB4 transactivation are rate-limiting events in the transduction of HGF signals via a dynamic c-Met complex resulting in enhanced EC barrier integrity
      Title: Critical role of S1PR1 and integrin β4 in HGF/c-Met-mediated increases in vascular integrity.
    3. Most actinic cheilitis cases showed reduced expression of integrin beta4 and superficially invasive squamous cell carcinoma lacked intergrin beta4 in the invasive front.
      Title: Expression of laminin-5 and integrins in actinic cheilitis and superficially invasive squamous cell carcinomas of the lip.
    4. invasive breast cancer cells confer an anoikis-resistant phenotype on myofibroblasts during tissue remodeling by inducing laminin-332 upregulation and integrin beta4 neoexpression
      Title: Invasive breast cancer induces laminin-332 upregulation and integrin β4 neoexpression in myofibroblasts to confer an anoikis-resistant phenotype during tissue remodeling.
    5. MAPK activation is increased when [Ca(2+)](i) is increased, suggesting that calcineurin activates an additional mechanism that counteracts MAPK-induced beta4 phosphorylation.
      Title: The calcium/calcineurin pathway promotes hemidesmosome stability through inhibition of β4 integrin phosphorylation.
    6. Silencing of ITGB4 in airway epithelial cells resulted in impaired antigen presentation processes and suppressed T cell proliferation.
      Title: Downregulation of integrin β4 decreases the ability of airway epithelial cells to present antigens.
    7. data indicate that the alpha6beta4 integrin is a master regulator of transcription and translation of other integrin subunits and underscore its pivotal role in wound healing and cancer
      Title: α6β4 integrin, a master regulator of expression of integrins in human keratinocytes.
    8. Mutational analysis disclosed compound heterozygosity for two novel nonsense mutations in the ITGB4 gene: c.600dupC/p.F201fsX14 and c.2533C>T/p.Q845X.
      Title: Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.
    9. the expression of integrin beta(4) is upregulated to sensitize the cells to low concentrations of netrin-4 for maintaining cell proliferation.
      Title: Netrin-4 promotes glioblastoma cell proliferation through integrin β4 signaling.
    10. beta4 can regulate SPARC expression and that SPARC is an effector of beta4-mediated invasion.
      Title: Integrin β4 regulates SPARC protein to promote invasion.
    Submit: New GeneRIF Correction See all (96)

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

    Review eQTL and phenotype association data in this region using PheGenI

    Adult junctional epidermolysis bullosa

    Summary from GeneReviews: Dystrophic Epidermolysis Bullosa Go to GeneReviews

    Disease Characteristics
    Based on the most recent classification system, dystrophic epidermolysis bullosa (DEB) includes three subtypes: Recessive DEB, severe generalized (RDEB-sev gen) (formerly called Hallopeau-Siemens type (RDEB-HS). Recessive DEB, generalized other (RDEB-O) (formerly called non-Hallopeau-Siemens type (RDEB-non-HS). Dominant DEB (DDEB) . In RDEB-sev gen, blisters affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, severe nutritional deficiency and secondary problems are common. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is over 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
    Diagnosis Testing
    Examination of a skin biopsy by transmission electron microscopy (EM) and/or immunofluorescent (IF) antibody/antigen mapping is the best way to reliably establish the diagnosis. The only gene known to be associated with DEB is COL7A1. Sequencing of exons 73, 74, and 75 of COL7A1 detects mutations in 75% of families with DDEB; sequencing of all coding exons detects mutations in about 95% of individuals with either DDEB or RDEB.
    Genetic Counseling
    Dystrophic epidermolysis bullosa is inherited in either an autosomal dominant (DDEB) or autosomal recessive (RDEB) manner. Molecular characterization of pathogenic mutations is the only accurate method to determine mode of inheritance and recurrence risk; phenotype severity and EM/IF findings alone are not sufficient. DDEB. About 70% of individuals diagnosed with DDEB are reported to have an affected parent. If a parent of a proband with DDEB is affected, the risk to the sibs is 50%. Each child of an individual with DDEB has a 50% chance of inheriting the mutation. RDEB. Each sib of an affected individual whose parents are both carriers has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Prenatal testing for pregnancies at increased risk for all subtypes of DEB is possible if the disease-causing allele(s) of an affected family member are known.
    References

    Summary from GeneReviews: Junctional Epidermolysis Bullosa Go to GeneReviews

    Disease Characteristics
    Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the trachea. Blisters generally heal with no significant scarring. Broad classification of JEB includes Herlitz JEB (aka lethal) and non-Herlitz JEB (aka non-lethal). In Herlitz JEB, the classic severe form of JEB, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In non-Herlitz JEB, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.
    Diagnosis Testing
    Because the clinical features of all types of EB overlap significantly, examination of a skin biopsy by transmission electron microscopy (TEM) and/ or immunofluorescent antibody/antigen mapping is usually required to establish the diagnosis of JEB, especially in infants. The four genes known to be associated with JEB are LAMB3 (70% of all JEB), COL17A1 (12%), LAMC2 (9%), and LAMA3 (9%).
    Genetic Counseling
    JEB is inherited in an autosomal recessive manner. The parents of an affected child are usually obligate heterozygotes (i.e., carriers). Because germline mosaicism and uniparental isodisomy have been reported, carrier status of parents needs to be confirmed with molecular genetic testing. At conception, each sib of an affected individual whose parents are both carriers has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. The offspring of an individual with autosomal recessive JEB are obligate heterozygotes (carriers) for a disease-causing mutation. Carrier testing for family members at increased risk and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing mutations have been identified in the family.
    References

    Epidermolysis bullosa simplex, Cockayne-Touraine type

    Summary from GeneReviews: Epidermolysis Bullosa Simplex Go to GeneReviews

    Disease Characteristics
    Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some cases) that results in nonscarring blisters caused by little or no trauma. The current classification of epidermolysis bullosa (EB) includes two major types and 12 minor subtypes of EBS; all share the common feature of blistering above the dermal-epidermal junction at the ultrastructural level. The four most common subtypes of EBS are the focus of this GeneReview: EBS, localized (EBS-loc; previously known as Weber-Cockayne type). EBS, Dowling-Meara type (EBS-DM). EBS, other generalized (EBS, gen-nonDM; previously known as Koebner type). EBS-with mottled pigmentation (EBS-MP) . The phenotypes for these subtypes range from relatively mild blistering of the hands and feet to more generalized blistering, which can be fatal. In EBS-loc, blisters are rarely present or minimal at birth and may occur on the knees and shins with crawling or on the feet at approximately age18 months; some individuals manifest the disease in adolescence or early adulthood. Blisters are usually confined to the hands and feet, but can occur anywhere if trauma is significant. In EBS, gen-non DM, blisters may be present at birth or develop within the first few months of life. Involvement is more widespread than in EBS-loc, but generally milder than in EBS-DM. In EBS-MP, skin fragility is evident at birth and clinically indistinguishable from EBS-DM; over time, progressive brown pigmentation interspersed with hypopigmented spots develops on the trunk and extremities, with the pigmentation disappearing in adult life. Focal palmar and plantar hyperkeratoses may occur. In EBS-DM, onset is usually at birth; severity varies greatly, both within and among families. Widespread and severe blistering and/or multiple grouped clumps of small blisters are typical and hemorrhagic blisters are common. Improvement occurs during mid- to late childhood. EBS-DM appears to improve with warmth in some individuals. Progressive hyperkeratosis of the palms and soles begins in childhood and may be the major complaint of affected individuals in adult life. Nail dystrophy and milia are common. Both hyper- and hypopigmentation can occur. Mucosal involvement in EBS-DM may interfere with feeding. Blistering can be severe enough to result in neonatal or infant death.
    Diagnosis Testing
    EBS-loc can almost always be diagnosed clinically. Diagnosis of generalized forms of EBS requires a skin biopsy obtained from the leading edge of a fresh blister; diagnosis is based on immunohistochemistry using appropriate fluorescent antibodies or transmission electron microscopic examination that reveals splitting within or just above the basal cell layer of the skin. . The four most common forms of EBS are caused by mutation in either KRT5 or KRT14. Molecular genetic testing of KRT5 and KRT14 detects mutations in approximately 75% of individuals with biopsy-diagnosed EBS-loc, EBS-DM, and EBS-gen-nonDM, and 90%-95% of mutations in those with EBS-MP.
    Genetic Counseling
    EBS caused by mutations in KRT5 or KRT14 is usually inherited in an autosomal dominant manner, but in rare families, especially those with consanguinity, it can be inherited in an autosomal recessive manner. For autosomal dominant EBS: Affected individuals may have inherited the mutated gene from an affected parent or have the disorder as the result of a de novo gene mutation. The chance that an affected person will pass the disease-causing mutation to each child is 50%. Prenatal testing is possible for pregnancies at increased risk if the disease-causing mutation has been identified in an affected family member.
    References

    Epidermolysis bullosa with pyloric atresia

    Summary from GeneReviews: Epidermolysis Bullosa with Pyloric Atresia Go to GeneReviews

    Disease Characteristics
    Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.
    Diagnosis Testing
    Because the clinical features of all types of epidermolysis bullosa (EB) overlap significantly, examination of a skin biopsy by transmission electron microscopy (TEM) and/ or immunofluorescent antibody/antigen mapping is usually required to establish the diagnosis. The three genes in which mutations are known to cause EB-PA are ITGB4 (~80% of EB-PA), ITGA6 (~5%), and PLEC1 (~15%).
    Genetic Counseling
    EB-PA is inherited in an autosomal recessive manner. The parents of an affected child are usually obligate heterozygotes (i.e., carriers). Because germline mosaicism and uniparental isodisomy are possible, carrier status of parents needs to be confirmed with molecular genetic testing. At conception, each sib of an affected individual whose parents are both carriers has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for family members at increased risk and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing mutations have been identified in the family.
    References
    Protein Gene Interaction Pubs
    Tat, p14 tat A monoclonal antibody to beta 4 integrin inhibited cellular attachment of HIV-1 Tat by over 90%, suggesting an interaction between Tat and the beta 4 integrin subunit in cell attachment to Tat PubMed
    pol gag-pol Beta4 integrin and alpha3 integrin are cleaved by the HIV-1 protease in human embryonic fibroblasts PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000204.2 NP_000201.1 ITGA6    BIND  PubMed VLA6-alpha6 interacts with Integrin-beta4. 
    NP_000204.3 NP_000688.1 ALOX12    BIND  PubMed 12-LOX interacts with Integrin-beta4. 
    P16144 P18054 ALOX12    HPRD  PubMed  
    P16144 P54253 ATXN1    HPRD  PubMed  
    P16144 Calcium activated chloride channel 1 CLCA1    HPRD  PubMed  
    P16144 Calcium activated chloride channel 2 CLCA2    HPRD  PubMed  
    P16144 Q9UMD9 COL17A1    HPRD  PubMed  
    P16144 O94833 DST    HPRD  PubMed  
    P16144 P56537 EIF6    HPRD  PubMed  
    P16144 P04626 ERBB2    HPRD  PubMed  
    P16144 Q96RT1 ERBB2IP    HPRD  PubMed  
    P16144 P06241 FYN    HPRD  PubMed  
    P16144 P62993 GRB2    HPRD  PubMed  
    P16144 P23229 ITGA6    HPRD  PubMed  
    P16144 P08581 MET    HPRD  PubMed  
    P16144 Q15149 PLEC    HPRD  PubMed  
    P16144 P17252 PRKCA    HPRD  PubMed  
    P16144 Q05655 PRKCD    HPRD  PubMed  
    P16144 Q05397 PTK2    HPRD  PubMed  
    P16144 P29353 SHC1    HPRD  PubMed  
    P16144 P08670 VIM    HPRD  PubMed  
    P16144 P07947 YES1    HPRD  PubMed  
    P16144 P31946 YWHAB    HPRD  PubMed  
    P16144 P27348 YWHAQ    HPRD  PubMed  
    BioGRID:109897 BioGRID:106740 ALOX12    BioGRID  PubMed Two-hybrid 
    BioGRID:109897 BioGRID:121616 ARRDC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109897 BioGRID:107776 ATF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109897 BioGRID:112217 ATXN1    BioGRID  PubMed Two-hybrid 
    BioGRID:109897 BioGRID:107704 COL17A1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109897 BioGRID:107135 DST    BioGRID  PubMed Two-hybrid 
    BioGRID:109897 BioGRID:109898 EIF6    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109897 BioGRID:120997 ERBB2IP    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109897 BioGRID:109433 HNRNPU    BioGRID  PubMed Co-fractionation 
    BioGRID:109897 BioGRID:109882 ITGA3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109897 BioGRID:109931 JUP    BioGRID  PubMed Co-fractionation 
    BioGRID:109897 BioGRID:111355 PLEC    BioGRID  PubMed Co-fractionation 
    BioGRID:109897 BioGRID:112361 SHC1    BioGRID  PubMed Far Western 
    BioGRID:109897 BioGRID:110262 SMAD2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109897 BioGRID:110263 SMAD3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109897 BioGRID:112599 SREBF2    BioGRID  PubMed Two-hybrid 
    BioGRID:109897 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem"Integrins are cell surface heterodimeric protein complex consisting of one alpha and one beta chain. Integrins act as cell adhesion molecules as well as participate in cellular signaling. The ligand...
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin, fibronectin and laminin embedded in a viscoelastic gel of ani...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Type I hemidesmosome assembly, organism-specific biosystem (from REACTOME)
      Type I hemidesmosome assembly, organism-specific biosystemHemidesmosomes (HDs) are specialized multiprotein junctional complexes that connect the keratin cytoskeleton of epithelial cells to the extracellular matrix and play a critical role in the maintenan...
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    • Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem (from Pathway Interaction Database)
      Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem
      Validated transcriptional targets of AP1 family members Fra1 and Fra2
    • a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      a6b1 and a6b4 Integrin signaling, organism-specific biosystem
      a6b1 and a6b4 Integrin signaling

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    cell junction assembly TAS
    Traceable Author Statement
    more info
    		  
    cell motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
    		  
    filopodium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    hemidesmosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
    		  
    integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to wounding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    		  
    hemidesmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    integrin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    integrin beta-4
    Names
    integrin beta-4
    GP150
    CD104 antigen
    integrin beta-4 subunit

    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_007372.1 RefSeqGene

      Range
      5001..41384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000213.3 → NP_000204.3  integrin beta-4 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC087749, AI318403, CA391583, X51841, X52186, X53587
      Consensus CDS
      CCDS11727.1
      UniProtKB/Swiss-Prot
      P16144
      Related
      ENSP00000200181, OTTHUMP00000262488, ENST00000200181, OTTHUMT00000448334
      Conserved Domains (5) summary
      cd00063
      Location:1528 – 1618
      Blast Score: 183
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07965
      Location:626 – 711
      Blast Score: 210
      Integrin_B_tail; Integrin beta tail domain
      smart00187
      Location:37 – 453
      Blast Score: 1546
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
      pfam03160
      Location:990 – 1084
      Blast Score: 206
      Calx-beta; Calx-beta domain
      cl09941
      Location:543 – 573
      Blast Score: 87
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    2. NM_001005619.1 → NP_001005619.1  integrin beta-4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in one place but has an additional in-frame exon in another place, as compared to variant 1. The encoded isoform 2 thus differs in two regions, as compared to isoform 1.
      Source sequence(s)
      AI318403, X51841, X52186, X53587
      Consensus CDS
      CCDS32736.1
      UniProtKB/Swiss-Prot
      P16144
      Related
      ENSP00000400217, OTTHUMP00000262490, ENST00000449880, OTTHUMT00000448338
      Conserved Domains (5) summary
      cd00063
      Location:1511 – 1601
      Blast Score: 184
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07965
      Location:626 – 711
      Blast Score: 212
      Integrin_B_tail; Integrin beta tail domain
      smart00187
      Location:37 – 453
      Blast Score: 1549
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
      pfam03160
      Location:990 – 1084
      Blast Score: 207
      Calx-beta; Calx-beta domain
      cl09941
      Location:543 – 573
      Blast Score: 87
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    3. NM_001005731.1 → NP_001005731.1  integrin beta-4 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 3 thus lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AI318403, CA391583, X51841, X52186, X53587
      Consensus CDS
      CCDS58599.1
      UniProtKB/Swiss-Prot
      P16144
      Related
      ENSP00000405536, OTTHUMP00000262489, ENST00000450894, OTTHUMT00000448335
      Conserved Domains (5) summary
      cd00063
      Location:1458 – 1548
      Blast Score: 184
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07965
      Location:626 – 711
      Blast Score: 209
      Integrin_B_tail; Integrin beta tail domain
      smart00187
      Location:37 – 453
      Blast Score: 1545
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
      pfam03160
      Location:990 – 1084
      Blast Score: 205
      Calx-beta; Calx-beta domain
      cl09941
      Location:543 – 573
      Blast Score: 86
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    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 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      73717516..73753899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      69141364..69178763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      74801188..74837575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01028772.1 (2662..30718) None
    genomic ABBA01028773.1 None
    genomic AC087749.12 (165921..202304) None
    genomic AF011376.1 AAB65422.1
    genomic AJ251004.1 CAB61345.1
    genomic AMYH01008635.1 (257948..294335) None
    genomic CH471099.1 EAW89305.1
      EAW89306.1
      EAW89307.1
      EAW89308.1
      EAW89309.1
      EAW89310.1
      EAW89311.1
      EAW89312.1
      EAW89313.1
      EAW89314.1
      EAW89315.1
    genomic U66541.1 AAC51632.1
      AAC51633.1
      AAC51634.1
    genomic Y11107.3 None
    mRNA AB208913.1 BAD92150.1
    mRNA AF011375.1 AAB65421.1
    mRNA AI318403.1 None
    mRNA AK304792.1 BAG65542.1
    mRNA AK310952.1 None
    mRNA BC109238.1 AAI09239.1
    mRNA BC118916.1 AAI18917.1
    mRNA BC126411.1 AAI26412.1
    mRNA BC143738.1 AAI43739.1
    mRNA BC143742.1 AAI43743.1
    mRNA CA391583.1 None
    mRNA X51841.1 CAA36134.1
    mRNA X52186.1 CAA36433.1
    mRNA X53587.1 CAA37656.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16144.5 GenPept UniProtKB/Swiss-Prot:P16144

    Additional Links

    Gene LinkOut

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

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