TNFRSF17 TNF receptor superfamily member 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNFRSF17provided by HGNC
Official Full Name: TNF receptor superfamily member 17provided by HGNC
Primary source: HGNC:HGNC:11913
See related: Ensembl:ENSG00000048462 MIM:109545; AllianceGenome:HGNC:11913
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: BCM; BCMA; CD269; TNFRSF13A
Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lymph node (RPKM 11.9), duodenum (RPKM 11.5) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (11965210..11968068)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (12001328..12004186)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (12059067..12061925)

Chromosome 16 - NC_000016.10 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?

Toll-like receptor signaling in multiple myeloma cells promotes the expression of pro-survival genes B-cell lymphoma 2 and MYC and modulates the expression of B-cell maturation antigen.
Title: Toll-like receptor signaling in multiple myeloma cells promotes the expression of pro-survival genes B-cell lymphoma 2 and MYC and modulates the expression of B-cell maturation antigen.
BCMA/CD47-directed universal CAR-T cells exhibit excellent antitumor activity in multiple myeloma.
Title: BCMA/CD47-directed universal CAR-T cells exhibit excellent antitumor activity in multiple myeloma.
25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERbeta/TNFRSF17 axis.
Title: 25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERβ/TNFRSF17 axis.
Soluble B-cell maturation antigen as a monitoring marker for multiple myeloma.
Title: Soluble B-cell maturation antigen as a monitoring marker for multiple myeloma.
Expression levels and patterns of B-cell maturation antigen in newly diagnosed and relapsed multiple myeloma patients from Indian subcontinent.
Title: Expression levels and patterns of B-cell maturation antigen in newly diagnosed and relapsed multiple myeloma patients from Indian subcontinent.
Serum B-Cell maturation antigen is an independent prognostic marker in previously untreated chronic lymphocytic leukemia.
Title: Serum B-Cell maturation antigen is an independent prognostic marker in previously untreated chronic lymphocytic leukemia.
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.
Baseline serum B-cell maturation antigen levels predict time to disease progression for patients with smoldering multiple myeloma.
Title: Baseline serum B-cell maturation antigen levels predict time to disease progression for patients with smoldering multiple myeloma.
Anti-BCMA CAR-T Cell Therapy in Relapsed or Refractory Multiple Myeloma Patients with Impaired Renal Function.
Title: Anti-BCMA CAR-T Cell Therapy in Relapsed or Refractory Multiple Myeloma Patients with Impaired Renal Function.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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

EBI GWAS Catalog

Description
Common variants at ten loci influence QT interval duration in the QTGEN Study. 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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Markers

D16S3207 (e-PCR)
- UniSTS:8965

RH70979 (e-PCR)
- UniSTS:28333

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in lymphocyte homeostasis	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement 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 17

Names: B cell maturation antigen; B-cell maturation factor; B-cell maturation protein

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.

mRNA and Protein(s)

NM_001192.3 → NP_001183.2 tumor necrosis factor receptor superfamily member 17

See identical proteins and their annotated locations for NP_001183.2

Status: REVIEWED

Source sequence(s)

AC007216

Consensus CDS

CCDS10552.1

UniProtKB/Swiss-Prot

Q02223, Q2TQ40

UniProtKB/TrEMBL

Q6PE46

Related

ENSP00000053243.1, ENST00000053243.6

Conserved Domains (1) summary

cd13414
Location:4 → 166

TNFRSF17; Tumor necrosis factor receptor superfamily member 17 (TNFRSF17), also known as B cell maturation antigen (BCMA), as well as TNFRSF13A