TNFRSF13C TNF receptor superfamily member 13C
Gene ID: 115650, updated on 5-Mar-2024Gene type: protein coding
Also known as: BAFFR; CD268; CVID4; BAFF-R; BROMIX; prolixin
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- Go to complete Gene record for TNFRSF13C
- Go to Variation Viewer for TNFRSF13C variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
Immunodeficiency, common variable, 2 | See labs |
Immunodeficiency, common variable, 4 | See labs |
Genomic context
- Location:
- 22q13.2
- Sequence:
- Chromosome: 22; NC_000022.11 (41922032..41926806, complement)
- Total number of exons:
- 3
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TNFRSF13C variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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