TSPAN2 tetraspanin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPAN2provided by HGNC
Official Full Name: tetraspanin 2provided by HGNC
Primary source: HGNC:HGNC:20659
See related: Ensembl:ENSG00000134198 MIM:613133; AllianceGenome:HGNC:20659
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: NET3; TSN2; TSPAN-2
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Expression: Broad expression in endometrium (RPKM 16.8), urinary bladder (RPKM 10.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (115048011..115089503, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (115059448..115100954, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (115590632..115632124, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Transmigration of Tetraspanin 2 (Tspan2) siRNA Via Microglia Derived Exosomes across the Blood Brain Barrier Modifies the Production of Immune Mediators by Microglia Cells.
Title: Transmigration of Tetraspanin 2 (Tspan2) siRNA Via Microglia Derived Exosomes across the Blood Brain Barrier Modifies the Production of Immune Mediators by Microglia Cells.
the authors have identified TSPAN2 as a candidate gene for Blood Pressure Regulation that is regulated by heritable DNA methylation
Title: DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation.
TSPAN2 may promote apoptosis of RNAKT-15 cells by regulating the JNK/beta-catenin pathway in response to high glucose concentrations. Targeting TSPAN2 could be a potential therapeutic strategy to treat glucose toxicity-induced beta-cell failure.
Title: Tetraspanin-2 promotes glucotoxic apoptosis by regulating the JNK/β-catenin signaling pathway in human pancreatic β cells.
A novel locus (G allele at rs12122341) at 1p13.2 near TSPAN2 that was associated with large artery atherosclerosis-related stroke.
Title: Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.
Studies suggest that TSPAN2 may contribute to the early stages of the oligodendrocyte differentiation into myelin-forming glia. Furthermore, in human lung cancer, Tspan2 could be involved in the progression of the tumour metastasis by modulating cancer cell motility and invasion functions. [review]
Title: Tspan2: a tetraspanin protein involved in oligodendrogenesis and cancer metastasis.
TSPAN2 is identified as a factor responsible for invasion, motility, and metastasis.
Title: TSPAN2 is involved in cell invasion and motility during lung cancer progression.
the C-allele of rs2078371 near TSPAN-2 also reached genome-wide significance for association with migraine.
Title: Replication and meta-analysis of common variants identifies a genome-wide significant locus in migraine.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine. 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

RH122033 (e-PCR)
- UniSTS:134669

D1S2212 (e-PCR)
- UniSTS:151848

RH98334 (e-PCR)
- UniSTS:92801

RH92905 (e-PCR)
- UniSTS:85480

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in axon development	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in microglia development	IEA Inferred from Electronic Annotation more info
involved_in myelination	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tetraspanin-2

Names: new EST tetraspan 3; tetraspan 2; tetraspan NET-3; tetraspan TM4SF

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.

mRNA and Protein(s)

NM_001308315.2 → NP_001295244.1 tetraspanin-2 isoform 2

See identical proteins and their annotated locations for NP_001295244.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. It encodes isoform 2, which has the same N- and C-termini, but is shorter than isoform 1.

Source sequence(s)

AA724831, AK022144, AL109660, AU117697, AW015874, AW051326, BG697236, CB993308

Consensus CDS

CCDS76193.1

UniProtKB/TrEMBL

B1AKP1, B2RD31

Related

ENSP00000358528.2, ENST00000369515.6

Conserved Domains (2) summary

cd03151
Location:85 → 161

CD81_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD81_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:11 → 185

Tetraspannin; Tetraspanin family
NM_001308316.2 → NP_001295245.1 tetraspanin-2 isoform 3

See identical proteins and their annotated locations for NP_001295245.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 3, which has the same N- and C-termini, but is shorter than isoform 1.

Source sequence(s)

AA724831, AK022144, AL109660, AU117697, AW015874, AW051326, BG697236, CB993308, GU971730

UniProtKB/TrEMBL

B1AKP2

Related

ENSP00000415256.1, ENST00000433172.3

Conserved Domains (1) summary

pfam00335
Location:11 → 158

Tetraspannin; Tetraspanin family
NM_005725.6 → NP_005716.2 tetraspanin-2 isoform 1

See identical proteins and their annotated locations for NP_005716.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA724831, AK022144, AK315385, AL109660, AU117697, AW015874, AW051326, BG697236, CB993308

Consensus CDS

CCDS881.1

UniProtKB/Swiss-Prot

D6PTH4, O60636, Q5TET2, Q8WU05

UniProtKB/TrEMBL

B2RD31

Related

ENSP00000358529.2, ENST00000369516.7

Conserved Domains (1) summary

pfam00335
Location:11 → 210

Tetraspannin; Tetraspanin family