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

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: mouse all
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Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses.
Title: CVID-Associated B Cell Activating Factor Receptor Variants Change Receptor Oligomerization, Ligand Binding, and Signaling Responses.
B-cell activating factor (BAFF), BAFF promoter and BAFF receptor allelic variants in hepatitis C virus related Cryoglobulinemic Vasculitis and Non-Hodgkin's Lymphoma.
Title: B-cell activating factor (BAFF), BAFF promoter and BAFF receptor allelic variants in hepatitis C virus related Cryoglobulinemic Vasculitis and Non-Hodgkin's Lymphoma.
BAFFR activates PI3K/AKT signaling in human naive but not in switched memory B cells through direct interactions with B cell antigen receptors.
Title: BAFFR activates PI3K/AKT signaling in human naive but not in switched memory B cells through direct interactions with B cell antigen receptors.
Decreased BAFF Receptor Expression and Unaltered B Cell Receptor Signaling in Circulating B Cells from Primary Sjogren's Syndrome Patients at Diagnosis.
Title: Decreased BAFF Receptor Expression and Unaltered B Cell Receptor Signaling in Circulating B Cells from Primary Sjögren's Syndrome Patients at Diagnosis.
Circulating Memory B Cells in Early Multiple Sclerosis Exhibit Increased IgA(+) Cells, Globally Decreased BAFF-R Expression and an EBV-Related IgM(+) Cell Signature.
Title: Circulating Memory B Cells in Early Multiple Sclerosis Exhibit Increased IgA(+) Cells, Globally Decreased BAFF-R Expression and an EBV-Related IgM(+) Cell Signature.
A BAFF ligand-based CAR-T cell targeting three receptors and multiple B cell cancers.
Title: A BAFF ligand-based CAR-T cell targeting three receptors and multiple B cell cancers.
Editorial overview: BAFF family ligands and receptors - a license to live.
Title: Editorial overview: BAFF family ligands and receptors - a license to live.
BAFF signaling in health and disease.
Title: BAFF signaling in health and disease.
BAFF receptor polymorphisms and deficiency in humans.
Title: BAFF receptor polymorphisms and deficiency in humans.
BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis.
Title: BAFF, APRIL and BAFFR on the pathogenesis of Immunoglobulin-A vasculitis.

Submit: New GeneRIF Correction See all GeneRIFs (85)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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

NG_007579.1 RefSeqGene

Range

5001..6786

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_184

mRNA and Protein(s)

NM_052945.4 → NP_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:16 → 45

BaffR-Tall_bind; BAFF-R, TALL-1 binding

cl22855
Location:159 → 178

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)