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    TSPAN8 tetraspanin 8 [ Homo sapiens (human) ]

    Gene ID: 7103, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TSPAN8provided by HGNC
    Official Full Name
    tetraspanin 8provided by HGNC
    Primary source
    HGNC:HGNC:11855
    See related
    Ensembl:ENSG00000127324 MIM:600769; AllianceGenome:HGNC:11855
    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
    mouse all
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    Genomic context

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    See TSPAN8 in Genome Data Viewer
    Location:
    12q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (71125096..71157999, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (71104602..71137962, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (71518876..71551779, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type R Neighboring gene uncharacterized LOC124902960 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:71151597-71152403 Neighboring gene MPRA-validated peak1808 silencer Neighboring gene MPRA-validated peak1809 silencer Neighboring gene MPRA-validated peak1810 silencer Neighboring gene uncharacterized LOC124902961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:71511486-71512024 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:71558757-71559956 Neighboring gene uncharacterized LOC105369831 Neighboring gene uncharacterized LOC105369832 Neighboring gene NANOG hESC enhancer GRCh37_chr12:71675819-71676351

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Gene expression profiles of human melanoma cells with different invasive potential reveal TSPAN8 as a novel mediator of invasion. Berthier-Vergnes O, et al. Br J Cancer, 2011 Jan 4. PMID 21081927, Free PMC Article
    2. Molecular cloning of cDNA for the human tumor-associated antigen CO-029 and identification of related transmembrane antigens. Szala S, et al. Proc Natl Acad Sci U S A, 1990 Sep. PMID 2395876, Free PMC Article
    3. Overexpression of tetraspanin CO-029 in hepatocellular carcinoma. Kanetaka K, et al. J Hepatol, 2001 Nov. PMID 11690710
    4. Novel differential gene expression in human cirrhosis detected by suppression subtractive hybridization. Shackel NA, et al. Hepatology, 2003 Sep. PMID 12939584
    5. Functional variants of TSPAN8 are associated with bipolar disorder and schizophrenia. Scholz CJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Jun 5. PMID 20052686

    See all (91) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology.
      Title: New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology.
    2. Overexpression of TSPAN8 in consensus molecular subtype 3 colorectal cancer.
      Title: Overexpression of TSPAN8 in consensus molecular subtype 3 colorectal cancer.
    3. miR-378a-5p represses Barrett's esophagus cells proliferation, migration and invasion through targeting TSPAN8.
      Title: miR-378a-5p represses Barrett's esophagus cells proliferation, migration and invasion through targeting TSPAN8.
    4. TSPAN8 regulates EGFR/AKT pathway to enhance metastasis in gastric cancer.
      Title: TSPAN8 regulates EGFR/AKT pathway to enhance metastasis in gastric cancer.
    5. The Transmembrane Protein TM4SF3 Interacts With AR and AR-V7 and is Recruited to AR Target Genes.
      Title: The Transmembrane Protein TM4SF3 Interacts With AR and AR-V7 and is Recruited to AR Target Genes.
    6. Histone demethylase KDM2A suppresses EGF-TSPAN8 pathway to inhibit breast cancer cell migration and invasion in vitro.
      Title: Histone demethylase KDM2A suppresses EGF-TSPAN8 pathway to inhibit breast cancer cell migration and invasion in vitro.
    7. TSPAN8 alleviates high glucose-induced apoptosis and autophagy via targeting mTORC2.
      Title: TSPAN8 alleviates high glucose-induced apoptosis and autophagy via targeting mTORC2.
    8. EGFR signaling promotes nuclear translocation of plasma membrane protein TSPAN8 to enhance tumor progression via STAT3-mediated transcription.
      Title: EGFR signaling promotes nuclear translocation of plasma membrane protein TSPAN8 to enhance tumor progression via STAT3-mediated transcription.
    9. High TSPAN8 expression in epithelial cancer cell-derived small extracellular vesicles promote confined diffusion and pronounced uptake.
      Title: High TSPAN8 expression in epithelial cancer cell-derived small extracellular vesicles promote confined diffusion and pronounced uptake.
    10. Tetraspanin8 expression predicts an increased metastatic risk and is associated with cancer-related death in human cutaneous melanoma.
      Title: Tetraspanin8 expression predicts an increased metastatic risk and is associated with cancer-related death in human cutaneous melanoma.
    Submit: New GeneRIF Correction See all GeneRIFs (55)

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

    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 integrin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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.

    Genomic

    1. NG_046933.1 RefSeqGene

      Range
      5001..37904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001369760.1 → NP_001356689.1  tetraspanin-8

      Status: REVIEWED

      Source sequence(s)
      AC025575
      Consensus CDS
      CCDS8999.1
      UniProtKB/Swiss-Prot
      B2R7T7, P19075, Q9BS78
      UniProtKB/TrEMBL
      Q53GA9
      Related
      ENSP00000447160.1, ENST00000546561.2
      Conserved Domains (2) summary
      cd03154
      Location:106 → 206
      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:8 → 230
      Tetraspannin; Tetraspanin family

    2. NM_004616.3 → NP_004607.1  tetraspanin-8

      See identical proteins and their annotated locations for NP_004607.1

      Status: REVIEWED

      Source sequence(s)
      AC025575
      Consensus CDS
      CCDS8999.1
      UniProtKB/Swiss-Prot
      B2R7T7, P19075, Q9BS78
      UniProtKB/TrEMBL
      Q53GA9
      Related
      ENSP00000247829.3, ENST00000247829.8
      Conserved Domains (2) summary
      cd03154
      Location:106 → 206
      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:8 → 230
      Tetraspannin; Tetraspanin family

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      71125096..71157999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      71104602..71137962 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373114.1 → XP_054229089.1  tetraspanin-8 isoform X1

      UniProtKB/Swiss-Prot
      B2R7T7, P19075, Q9BS78
      UniProtKB/TrEMBL
      Q53GA9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P19075.1 GenPept UniProtKB/Swiss-Prot:P19075

    Gene LinkOut

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

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