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

    Gene ID: 23495, updated on 19-Sep-2024

    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
    NEW
    Try the new Gene table
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    Genomic context

    See TNFRSF13B in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16939081..16972118, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16885160..16918195, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16842395..16875432, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16783154-16783818 Neighboring gene uncharacterized LOC101929105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16785977-16786476 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47083 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:16828359-16829044 Neighboring gene TBC1 domain family member 27, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16840494-16840994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16841792-16842632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16846756-16847256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16847257-16847757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16847819-16848342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16848867-16849390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16849391-16849914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11777 Neighboring gene uncharacterized LOC284191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16884947-16885486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16885487-16886025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16890303-16891133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11784 Neighboring gene long intergenic non-protein coding RNA 2090

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants at TNFRSF13B associated with IgG level in a healthy Chinese male population.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of serum albumin:globulin ratio in Korean populations.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39942, MGC39952, MGC133214

    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

    Preferred Names
    tumor necrosis factor receptor superfamily member 13B
    Names
    transmembrane activator and CAML interactor
    tumor necrosis factor receptor 13B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_007281.1 RefSeqGene

      Range
      5001..38005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_120

    mRNA and Protein(s)

    1. 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)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      16939081..16972118 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      16885160..16918195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)