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

Gene ID: 115650, updated on 29-Mar-2023

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; AllianceGenome:HGNC:17755
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
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41922032..41926806, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42400895..42405666, complement)
105.20220307 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 uncharacterized LOC124905125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42315058-42315561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321037-42321538 Neighboring gene microRNA 378i Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321539-42322038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42324809-42325419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42325420-42326029 Neighboring gene centromere protein M

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency, common variable, 2
MedGen: C3150354 OMIM: 240500 GeneReviews: Not available
Compare labs
Immunodeficiency, common variable, 4
MedGen: C3150739 OMIM: 613494 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    42400895..42405666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)