TSPAN8 tetraspanin 8 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Overexpression of TSPAN8 in consensus molecular subtype 3 colorectal cancer.
Title: Overexpression of TSPAN8 in consensus molecular subtype 3 colorectal cancer.
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.
TSPAN8 regulates EGFR/AKT pathway to enhance metastasis in gastric cancer.
Title: TSPAN8 regulates EGFR/AKT pathway to enhance metastasis in gastric cancer.
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.
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.
TSPAN8 alleviates high glucose-induced apoptosis and autophagy via targeting mTORC2.
Title: TSPAN8 alleviates high glucose-induced apoptosis and autophagy via targeting mTORC2.
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.
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.
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 EBI GWAS CatalogPubMed
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G63461 (e-PCR)
- UniSTS:140573

D12S1465 (e-PCR)
- UniSTS:12378

D12S1964 (e-PCR)
- UniSTS:63910

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 more info	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

NG_046933.1 RefSeqGene

Range

5001..37904

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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