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

Summary

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; AllianceGenome:HGNC:18153
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]
Expression: Biased expression in spleen (RPKM 10.1), lymph node (RPKM 5.1) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (16939081..16972118, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (16885160..16918195, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (16842395..16875432, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TNFRSF13B gene mutation in familial acute myeloid leukemia: A new piece in the complex scenario of hereditary predisposition?
Title: TNFRSF13B gene mutation in familial acute myeloid leukemia: A new piece in the complex scenario of hereditary predisposition?
Features of Isoforms of Human Soluble TACI.
Title: Features of Isoforms of Human Soluble TACI.
TNFRSF13B/TACI Mutations in Patients with Chronic Rhinosinusitis with Nasal Polyps.
Title: TNFRSF13B/TACI Mutations in Patients with Chronic Rhinosinusitis with Nasal Polyps.
TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.
Title: TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.
Title: Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.
TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells.
Title: TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells.
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.
Endogenous soluble receptors sBCMA and sTACI: biomarker, immunoregulator and hurdle for therapy in multiple myeloma.
Title: Endogenous soluble receptors sBCMA and sTACI: biomarker, immunoregulator and hurdle for therapy in multiple myeloma.
TACI deficiency - a complex system out of balance.
Title: TACI deficiency - a complex system out of balance.
TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.
Title: TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (100)

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
Immunoglobulin A deficiency 2 MedGen: C1836032 OMIM: 609529 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and fine mapping of serum protein loci through transethnic meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies common variants at TNFRSF13B associated with IgG level in a healthy Chinese male population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of serum albumin:globulin ratio in Korean populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis for severe diabetic retinopathy. 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in hematopoietic progenitor cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of B cell proliferation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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 13B

Names: transmembrane activator and CAML interactor; tumor necrosis factor receptor 13B

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_007281.1 RefSeqGene

Range

5001..38005

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_120

mRNA and Protein(s)

NM_012452.3 → NP_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)

AC104024, AL353996

Consensus CDS

CCDS11181.1

UniProtKB/Swiss-Prot

B2R8B0, B7Z6V8, O14836, Q32LX4, Q7Z6F5

UniProtKB/TrEMBL

Q4ACX1, Q53F36

Related

ENSP00000261652.2, ENST00000261652.7

Conserved Domains (1) summary

cd13415
Location:34 → 245

TNFRSF13B; Tumor necrosis factor receptor superfamily member 13B (TNFRSF13B), also known as transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI)