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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.

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