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    TNFRSF13C TNF receptor superfamily member 13C [ Homo sapiens (human) ]

    Gene ID: 115650, updated on 11-Jul-2021

    Summary

    Official Symbol
    TNFRSF13Cprovided by HGNC
    Official Full Name
    TNF receptor superfamily member 13Cprovided by HGNC
    Primary source
    HGNC:HGNC:17755
    See related
    Ensembl:ENSG00000159958 MIM:606269
    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
    BAFFR; CD268; CVID4; BAFF-R; BROMIX; prolixin
    Summary
    B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in spleen (RPKM 19.7), lymph node (RPKM 17.1) and 5 other tissues See more
    Orthologs
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    Genomic context

    See TNFRSF13C in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41922032..41926806, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42318036..42322810, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene sterol regulatory element binding transcription factor 2 Neighboring gene microRNA 33a Neighboring gene shisa family member 8 Neighboring gene microRNA 378i Neighboring gene CAGE-defined B cell enhancer downstream of CENPM Neighboring gene centromere protein M Neighboring gene long intergenic non-protein coding RNA 634

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Common variable immunodeficiency 2
    MedGen: C3150354 OMIM: 240500 GeneReviews: Not available
    Compare labs
    Common variable immunodeficiency 4
    MedGen: C3150739 OMIM: 613494 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138235

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in B cell costimulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in T cell costimulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of B cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of T cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tumor necrosis factor-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tumor necrosis factor receptor superfamily member 13C
    Names
    B cell-activating factor receptor
    BAFF receptor
    BLyS receptor 3

    NCBI Reference Sequences (RefSeq)

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    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_007579.1 RefSeqGene

      Range
      5001..6786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_184

    mRNA and Protein(s)

    1. NM_052945.4NP_443177.1  tumor necrosis factor receptor superfamily member 13C

      See identical proteins and their annotated locations for NP_443177.1

      Status: REVIEWED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS14024.1
      UniProtKB/Swiss-Prot
      Q96RJ3
      UniProtKB/TrEMBL
      Q5H8V1
      Related
      ENSP00000291232.3, ENST00000291232.5
      Conserved Domains (2) summary
      pfam09256
      Location:1645
      BaffR-Tall_bind; BAFF-R, TALL-1 binding
      cl22855
      Location:159178
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      41922032..41926806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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