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    TSPAN8 tetraspanin 8 [ Homo sapiens (human) ]

    Gene ID: 7103, updated on 12-Aug-2018

    Summary

    Official Symbol
    TSPAN8provided by HGNC
    Official Full Name
    tetraspanin 8provided by HGNC
    Primary source
    HGNC:HGNC:11855
    See related
    Ensembl:ENSG00000127324 MIM:600769; Vega:OTTHUMG00000169542
    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
    CO-029; TM4SF3
    Summary
    The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in colon (RPKM 463.8), duodenum (RPKM 388.7) and 5 other tissues See more
    Orthologs

    Genomic context

    See TSPAN8 in Genome Data Viewer
    Location:
    12q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (71125093..71157999, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (71518877..71551779, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369828 Neighboring gene protein tyrosine phosphatase, receptor type B Neighboring gene protein tyrosine phosphatase, receptor type R Neighboring gene fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 Neighboring gene uncharacterized LOC105369831 Neighboring gene uncharacterized LOC105369832

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    NHGRI GWA Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    NHGRI GWA Catalog

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    tetraspanin-8
    Names
    transmembrane 4 superfamily member 3
    tspan-8
    tumor-associated antigen CO-029

    NCBI Reference Sequences (RefSeq)

    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_046933.1 RefSeqGene

      Range
      5001..37903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004616.2NP_004607.1  tetraspanin-8

      See identical proteins and their annotated locations for NP_004607.1

      Status: REVIEWED

      Source sequence(s)
      BC005246
      Consensus CDS
      CCDS8999.1
      UniProtKB/Swiss-Prot
      P19075
      Related
      ENSP00000247829.3, OTTHUMP00000241501, ENST00000247829.7, OTTHUMT00000404738
      Conserved Domains (2) summary
      cd03154
      Location:106206
      TM4SF3_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF3_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:7234
      Tetraspannin; Tetraspanin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      71125093..71157999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719583.3XP_006719646.1  tetraspanin-8 isoform X1

      See identical proteins and their annotated locations for XP_006719646.1

      UniProtKB/Swiss-Prot
      P19075
      Related
      ENSP00000377003.2, OTTHUMP00000241500, ENST00000393330.6, OTTHUMT00000404737
      Conserved Domains (2) summary
      cd03154
      Location:106206
      TM4SF3_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF3_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:7234
      Tetraspannin; Tetraspanin family
    2. XM_017019913.2XP_016875402.1  tetraspanin-8 isoform X1

      UniProtKB/Swiss-Prot
      P19075
      Related
      ENSP00000447160.1, OTTHUMP00000241502, ENST00000546561.2
      Conserved Domains (2) summary
      cd03154
      Location:106206
      TM4SF3_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF3_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:7234
      Tetraspannin; Tetraspanin family
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