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TSPAN8 tetraspanin 8 [ Homo sapiens (human) ]

Gene ID: 7103, updated on 11-Apr-2024

Summary

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
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Genomic context

Location:
12q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (71125096..71157999, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (71104602..71137962, complement)
105.20220307 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

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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_001369760.1NP_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: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:8230
    Tetraspannin; Tetraspanin family
  2. NM_004616.3NP_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: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:8230
    Tetraspannin; Tetraspanin family

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_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_054373114.1XP_054229089.1  tetraspanin-8 isoform X1

    UniProtKB/Swiss-Prot
    B2R7T7, P19075, Q9BS78