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

Gene ID: 608, updated on 5-Mar-2024

Summary

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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

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Location:
16p13.13
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (11965210..11968068)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (12001328..12004186)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (12059067..12061925)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:11932294-11932479 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:11944561-11945760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:11946068-11946601 Neighboring gene ribosomal L1 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7212 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:12009257-12010194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:12011253-12011753 Neighboring gene G1 to S phase transition 1 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:12066613-12067113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:12069255-12069906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7216 Neighboring gene nuclear pore complex interacting protein family member B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10463 Neighboring gene ubiquitin like 5 pseudogene 4 Neighboring gene sorting nexin 29 Neighboring gene Sharpr-MPRA regulatory region 15429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:12169236-12169786 Neighboring gene ribosomal protein S23 pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Soluble B-cell maturation antigen as a monitoring marker for multiple myeloma. Wiedemann Á, et al. Pathol Oncol Res, 2023. PMID 37188125, Free PMC Article
  2. Expression levels and patterns of B-cell maturation antigen in newly diagnosed and relapsed multiple myeloma patients from Indian subcontinent. Sriram H, et al. Cytometry B Clin Cytom, 2022 Nov. PMID 36346307
  3. Serum B-Cell maturation antigen is an independent prognostic marker in previously untreated chronic lymphocytic leukemia. Soof CM, et al. Exp Hematol, 2022 Jul. PMID 35525334
  4. Anti-BCMA CAR-T Cell Therapy in Relapsed or Refractory Multiple Myeloma Patients with Impaired Renal Function. He SL, et al. Curr Med Sci, 2021 Jun. PMID 34169427
  5. Baseline serum B-cell maturation antigen levels predict time to disease progression for patients with smoldering multiple myeloma. Bujarski S, et al. Eur J Haematol, 2021 Sep. PMID 33993536

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Focus on monoclonal antibodies targeting B-cell maturation antigen (BCMA) in multiple myeloma: update 2021.
    Title: Focus on monoclonal antibodies targeting B-cell maturation antigen (BCMA) in multiple myeloma: update 2021.
  9. Estimating a normal reference range for serum B-cell maturation antigen levels for multiple myeloma patients.
    Title: Estimating a normal reference range for serum B-cell maturation antigen levels for multiple myeloma patients.
  10. Anti-BCMA Immunotoxins: Design, Production, and Preclinical Evaluation.
    Title: Anti-BCMA Immunotoxins: Design, Production, and Preclinical Evaluation.
Submit: New GeneRIF Correction See all GeneRIFs (57)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    11965210..11968068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    12001328..12004186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02223.2 GenPept UniProtKB/Swiss-Prot:Q02223

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
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