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TSPAN8 (tetraspanin 8)

Written2009-10Uwe Matthias Galli
Department of Tumour Cell Biology, University Hospital of Surgery, Heidelberg, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_namesTM4SF3
transmembrane 4 superfamily member 3
Alias_symbol (synonym)CO-029
Other aliasTspan-8
HGNC (Hugo) TSPAN8
LocusID (NCBI) 7103
Atlas_Id 42585
Location 12q21.1  [Link to chromosome band 12q21]
Location_base_pair Starts at 71125097 and ends at 71157999 bp from pter ( according to hg19-Feb_2009)  [Mapping TSPAN8.png]
Fusion genes
(updated 2016)
CNTN1 (12q12) / TSPAN8 (12q21.1)FRS2 (12q15) / TSPAN8 (12q21.1)KIF21A (12q12) / TSPAN8 (12q21.1)
OSBPL8 (12q21.2) / TSPAN8 (12q21.1)TMEM19 (12q21.1) / TSPAN8 (12q21.1)TSPAN8 (12q21.1) / HDAC9 (7p21.1)
TSPAN8 (12q21.1) / TSPAN8 (12q21.1)WNT11 (11q13.5) / TSPAN8 (12q21.1)

DNA/RNA

 
  The human Tspan8 gene contains 9 exons and 8 introns and was predicted to span over 32,9 kb appoximately of the genomic DNA. Transcript length: 1130 bps, translation length: 237 residues.

Protein

 
  Tetraspanin 8 has a short amino- and carboxy-terminal tail, a small intracellular loop between transmembrane region 2 (TM2) and TM3, a small extracellular loop (ECL1) between TM1 and TM2 and a large extracellular loop (ECL2) between TM3 and TM4. Extracellular loop 2 contains six conserved cysteine residues (red) including the CCG motif; disulphide bonds are indicated. The transmembrane regions 1 and 4 have polar amino acids (green), the cytoplasmic domains contain palmitoylation sites (pink) and the carboxy-terminal domain contains a sorting motif (blue).
Description Tspan8 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family.
Expression Tetraspanin 8 is expressed in squamous epithelial cells (not epidermis), capillary endothelial cells, nerves, smooth and striated muscle cells, and subpopulations of hematopoietic progenitor cells.
Function Like other tetraspanins, Tspan8 act as a "molecular facilitator" by forming a web in glycolipid-enriched membrane microdomains, called TEM (tetraspanin enriched membrane domains). Tspan8 associates with additional tetraspanins, integrins, preferentially CD49c, CD104, but also CD49d. It is directly associated with EWI-F, CD13 and intersectin 2. Via its associated molecules Tspan8 becomes involved in cell adhesion and motility as well as signal transduction. Motility promotion mostly proceeds via its association with CD104 and is in line with pronounced metastatic spread of Tspan8 overexpressing tumors as described for hepatocellular cancer. Similar to other tetraspanins, Tspan8 is abundantly present in exosomes, where it accounts via its association with CD49d for endothelial cell and endothelial cell progenitor targeting with the consequence of endothelial cell activation and endothelial cell progenitor maturation.
Regulates cell motility and survival and is involved in the promotion of angiogenesis.

Mutations

Note Not known in Homo sapiens.

Implicated in

Note
  
Entity Tumors of the gastrointestinal tract
Note CO-029 is associated with tumor progression and is supposed to promote metastasis formation. It has been described as a marker of several types of carcinomas and sarcomas. In gastrointestinal tumors the expression of CO-029 has been associated with a poor pognosis.
Disease Gastric tumors, colorectal tumors, pancreatic tumors and liver tumors.
  
  
Entity Hepatocellular carcinoma (HCC)
Note Tetraspanin CO-029 was found to be frequently and significantly overexpressed in HCC. CO-029 was overexpressed in poorly differentiated HCCs compared with well to moderately differentiated tumors, and in HCCs showing intrahepatic spreading compared with those without spreading.
  

Bibliography

Association between the rat homologue of CO-029, a metastasis-associated tetraspanin molecule and consumption coagulopathy.
Claas C, Seiter S, Claas A, Savelyeva L, Schwab M, Zoller M.
J Cell Biol. 1998 Apr 6;141(1):267-80.
PMID 9531564
 
Colocalization of the tetraspanins, CO-029 and CD151, with integrins in human pancreatic adenocarcinoma: impact on cell motility.
Gesierich S, Paret C, Hildebrand D, Weitz J, Zgraggen K, Schmitz-Winnenthal FH, Horejsi V, Yoshie O, Herlyn D, Ashman LK, Zoller M.
Clin Cancer Res. 2005 Apr 15;11(8):2840-52.
PMID 15837731
 
Possible involvement of tetraspanin CO-029 in hematogenous intrahepatic metastasis of liver cancer cells.
Kanetaka K, Sakamoto M, Yamamoto Y, Takamura M, Kanematsu T, Hirohashi S.
J Gastroenterol Hepatol. 2003 Nov;18(11):1309-14.
PMID 14535989
 
A complex of EpCAM, claudin-7, CD4 variant isoforms, and tetraspanins promotes colorectal cancer progression.
Kuhn S, Koch M, Nubel T, Ladwein M, Antolovic D, Klingbeil P, Hildebrand D, Moldenhauer G, Langbein L, Franke WW, Weitz J, Zoller M.
Mol Cancer Res. 2007 Jun;5(6):553-67.
PMID 17579117
 
Profiling of the tetraspanin web of human colon cancer cells.
Le Naour F, Andre M, Greco C, Billard M, Sordat B, Emile JF, Lanza F, Boucheix C, Rubinstein E.
Mol Cell Proteomics. 2006 May;5(5):845-57. Epub 2006 Feb 7.
PMID 16467180
 
Molecular cloning of cDNA for the human tumor-associated antigen CO-029 and identification of related transmembrane antigens.
Szala S, Kasai Y, Steplewski Z, Rodeck U, Koprowski H, Linnenbach AJ.
Proc Natl Acad Sci U S A. 1990 Sep;87(17):6833-7.
PMID 2395876
 
TM4SF3 promotes esophageal carcinoma metastasis via upregulating ADAM12m expression.
Zhou Z, Ran YL, Hu H, Pan J, Li ZF, Chen LZ, Sun LC, Peng L, Zhao XL, Yu L, Sun LX, Yang ZH.
Clin Exp Metastasis. 2008;25(5):537-48. Epub 2008 Mar 26.
PMID 18365756
 
A Tetraspanins: push and pull in suppressing and promoting metastasis.
Zoller M.
Nat Rev Cancer. 2009 Jan;9(1):40-55. Epub 2008 Dec 11. (REVIEW)
PMID 19078974
 

Citation

This paper should be referenced as such :
Galli, UM
TSPAN8 (tetraspanin 8)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(8):788-789.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TSPAN8ID42585ch12q21.html


External links

Nomenclature
HGNC (Hugo)TSPAN8   11855
Cards
AtlasTSPAN8ID42585ch12q21
Entrez_Gene (NCBI)TSPAN8  7103  tetraspanin 8
AliasesCO-029; TM4SF3
GeneCards (Weizmann)TSPAN8
Ensembl hg19 (Hinxton)ENSG00000127324 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127324 [Gene_View]  chr12:71125097-71157999 [Contig_View]  TSPAN8 [Vega]
ICGC DataPortalENSG00000127324
TCGA cBioPortalTSPAN8
AceView (NCBI)TSPAN8
Genatlas (Paris)TSPAN8
WikiGenes7103
SOURCE (Princeton)TSPAN8
Genetics Home Reference (NIH)TSPAN8
Genomic and cartography
GoldenPath hg38 (UCSC)TSPAN8  -     chr12:71125097-71157999 -  12q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TSPAN8  -     12q21.1   [Description]    (hg19-Feb_2009)
EnsemblTSPAN8 - 12q21.1 [CytoView hg19]  TSPAN8 - 12q21.1 [CytoView hg38]
Mapping of homologs : NCBITSPAN8 [Mapview hg19]  TSPAN8 [Mapview hg38]
OMIM600769   
Gene and transcription
Genbank (Entrez)AK223022 AK313112 BC005246 BC070168 JF432460
RefSeq transcript (Entrez)NM_004616
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TSPAN8
Cluster EST : UnigeneHs.170563 [ NCBI ]
CGAP (NCI)Hs.170563
Alternative Splicing GalleryENSG00000127324
Gene ExpressionTSPAN8 [ NCBI-GEO ]   TSPAN8 [ EBI - ARRAY_EXPRESS ]   TSPAN8 [ SEEK ]   TSPAN8 [ MEM ]
Gene Expression Viewer (FireBrowse)TSPAN8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7103
GTEX Portal (Tissue expression)TSPAN8
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19075   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19075  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19075
Splice isoforms : SwissVarP19075
PhosPhoSitePlusP19075
Domaine pattern : Prosite (Expaxy)TM4_1 (PS00421)   
Domains : Interpro (EBI)Tetraspanin    Tetraspanin/Peripherin    Tetraspanin_CS    Tetraspanin_EC2   
Domain families : Pfam (Sanger)Tetraspannin (PF00335)   
Domain families : Pfam (NCBI)pfam00335   
Conserved Domain (NCBI)TSPAN8
DMDM Disease mutations7103
Blocks (Seattle)TSPAN8
SuperfamilyP19075
Human Protein AtlasENSG00000127324
Peptide AtlasP19075
HPRD02865
IPIIPI00015872   IPI01022643   
Protein Interaction databases
DIP (DOE-UCLA)P19075
IntAct (EBI)P19075
FunCoupENSG00000127324
BioGRIDTSPAN8
STRING (EMBL)TSPAN8
ZODIACTSPAN8
Ontologies - Pathways
QuickGOP19075
Ontology : AmiGOintegrin binding  integral component of plasma membrane  cell surface receptor signaling pathway  spermatogenesis  cell surface  regulation of gene expression  negative regulation of blood coagulation  extracellular exosome  
Ontology : EGO-EBIintegrin binding  integral component of plasma membrane  cell surface receptor signaling pathway  spermatogenesis  cell surface  regulation of gene expression  negative regulation of blood coagulation  extracellular exosome  
NDEx NetworkTSPAN8
Atlas of Cancer Signalling NetworkTSPAN8
Wikipedia pathwaysTSPAN8
Orthology - Evolution
OrthoDB7103
GeneTree (enSembl)ENSG00000127324
Phylogenetic Trees/Animal Genes : TreeFamTSPAN8
HOVERGENP19075
HOGENOMP19075
Homologs : HomoloGeneTSPAN8
Homology/Alignments : Family Browser (UCSC)TSPAN8
Gene fusions - Rearrangements
Fusion : MitelmanCNTN1/TSPAN8 [12q12/12q21.1]  [t(12;12)(q12;q21)]  
Fusion : MitelmanFRS2/TSPAN8 [12q15/12q21.1]  [t(12;12)(q15;q21)]  
Fusion : MitelmanKIF21A/TSPAN8 [12q12/12q21.1]  [t(12;12)(q12;q21)]  
Fusion : MitelmanOSBPL8/TSPAN8 [12q21.2/12q21.1]  [t(12;12)(q21;q21)]  
Fusion : MitelmanTMEM19/TSPAN8 [12q21.1/12q21.1]  [t(12;12)(q21;q21)]  
Fusion : MitelmanWNT11/TSPAN8 [11q13.5/12q21.1]  [t(11;12)(q13;q21)]  
Fusion: TCGACNTN1 12q12 TSPAN8 12q21.1 LUAD
Fusion: TCGAFRS2 12q15 TSPAN8 12q21.1 BRCA
Fusion: TCGAKIF21A 12q12 TSPAN8 12q21.1 HNSC
Fusion: TCGAOSBPL8 12q21.2 TSPAN8 12q21.1 PRAD
Fusion: TCGATMEM19 12q21.1 TSPAN8 12q21.1 GBM
Fusion: TCGAWNT11 11q13.5 TSPAN8 12q21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTSPAN8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TSPAN8
dbVarTSPAN8
ClinVarTSPAN8
1000_GenomesTSPAN8 
Exome Variant ServerTSPAN8
ExAC (Exome Aggregation Consortium)TSPAN8 (select the gene name)
Genetic variants : HAPMAP7103
Genomic Variants (DGV)TSPAN8 [DGVbeta]
DECIPHERTSPAN8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTSPAN8 
Mutations
ICGC Data PortalTSPAN8 
TCGA Data PortalTSPAN8 
Broad Tumor PortalTSPAN8
OASIS PortalTSPAN8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTSPAN8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTSPAN8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TSPAN8
DgiDB (Drug Gene Interaction Database)TSPAN8
DoCM (Curated mutations)TSPAN8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TSPAN8 (select a term)
intoGenTSPAN8
NCG5 (London)TSPAN8
Cancer3DTSPAN8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600769   
Orphanet
MedgenTSPAN8
Genetic Testing Registry TSPAN8
NextProtP19075 [Medical]
TSGene7103
GENETestsTSPAN8
Target ValidationTSPAN8
Huge Navigator TSPAN8 [HugePedia]
snp3D : Map Gene to Disease7103
BioCentury BCIQTSPAN8
ClinGenTSPAN8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7103
Chemical/Pharm GKB GenePA36556
Clinical trialTSPAN8
Miscellaneous
canSAR (ICR)TSPAN8 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTSPAN8
EVEXTSPAN8
GoPubMedTSPAN8
iHOPTSPAN8
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:39:26 CEST 2017

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