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    TNFRSF13B TNF receptor superfamily member 13B [ Homo sapiens (human) ]

    Gene ID: 23495, updated on 6-Dec-2016
    Official Symbol
    TNFRSF13Bprovided by HGNC
    Official Full Name
    TNF receptor superfamily member 13Bprovided by HGNC
    Primary source
    HGNC:HGNC:18153
    See related
    Ensembl:ENSG00000240505 MIM:604907; Vega:OTTHUMG00000059262
    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
    CVID; RYZN; TACI; CD267; CVID2; IGAD2; TNFRSF14B
    Summary
    The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (16939084..16972088, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16842398..16875432, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 27 Neighboring gene TBC1 domain family member 3G-like Neighboring gene uncharacterized LOC284191 Neighboring gene uncharacterized LOC105371562

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Common variable immunodeficiency 2
    MedGen: C3150354 OMIM: 240500 GeneReviews: Not available
    Compare labs
    Immunoglobulin A deficiency 2
    MedGen: C1836032 OMIM: 609529 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.
    NHGRI GWA Catalog
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    NHGRI GWA Catalog
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    NHGRI GWA Catalog
    Genome-wide association study identifies common variants at TNFRSF13B associated with IgG level in a healthy Chinese male population.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study of serum albumin:globulin ratio in Korean populations.
    NHGRI GWA Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    NHGRI GWA Catalog
    • 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...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • 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...
    • 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...
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-2-mediated signaling events, organism-specific biosystem
      Syndecan-2-mediated signaling events
    • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-4-mediated signaling events, organism-specific biosystem
      Syndecan-4-mediated signaling events
    • TNFR2 non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
      TNFR2 non-canonical NF-kB pathway, organism-specific biosystemTumor necrosis factor-alpha (TNFA) exerts a wide range of biological effects through TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2). Under normal physiological conditions TNFR2 exhibits more restr...
    • TNFs bind their physiological receptors, organism-specific biosystem (from REACTOME)
      TNFs bind their physiological receptors, organism-specific biosystemMembers of the tumour necrosis factor superfamily (TNFSF) and TNF receptor superfamily (TNFRSF) have crucial roles in both innate and adaptive immunity. These members are implicated in various acquir...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ39942, MGC39952, MGC133214

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    hematopoietic progenitor cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of B cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    tumor necrosis factor receptor superfamily member 13B
    Names
    transmembrane activator and CAML interactor
    tumor necrosis factor receptor 13B

    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_007281.1 RefSeqGene

      Range
      5001..38005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_120

    mRNA and Protein(s)

    1. NM_012452.2NP_036584.1  tumor necrosis factor receptor superfamily member 13B

      See identical proteins and their annotated locations for NP_036584.1

      Status: REVIEWED

      Source sequence(s)
      AF023614
      Consensus CDS
      CCDS11181.1
      UniProtKB/Swiss-Prot
      O14836
      UniProtKB/TrEMBL
      Q4ACX1
      Related
      ENSP00000261652, OTTHUMP00000065442, ENST00000261652, OTTHUMT00000131474
      Conserved Domains (1) summary
      cd13415
      Location:34245
      TNFRSF13B; Tumor necrosis factor receptor superfamily member 13B (TNFRSF13B), also known as transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      16939084..16972088 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      16852066..16885080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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