TSPAN7 tetraspanin 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPAN7provided by HGNC
Official Full Name: tetraspanin 7provided by HGNC
Primary source: HGNC:HGNC:11854
See related: Ensembl:ENSG00000156298 MIM:300096; AllianceGenome:HGNC:11854
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: A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; XLID58; TALLA-1; TM4SF2b; DXS1692E
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 and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 306.6), adrenal (RPKM 70.3) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.4

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (38561542..38688918)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (37965162..38092516)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (38420795..38548172)

Chromosome X - NC_000023.11 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?

Loss of tetraspanin-7 expression reduces pancreatic beta-cell exocytosis Ca[2+] sensitivity but has limited effect on systemic metabolism.
Title: Loss of tetraspanin-7 expression reduces pancreatic β-cell exocytosis Ca(2+) sensitivity but has limited effect on systemic metabolism.
Dendritic Cell Maturation Regulates TSPAN7 Function in HIV-1 Transfer to CD4(+) T Lymphocytes.
Title: Dendritic Cell Maturation Regulates TSPAN7 Function in HIV-1 Transfer to CD4(+) T Lymphocytes.
Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer.
Title: Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer.
Autoimmunity to tetraspanin-7 in type 1 diabetes.
Title: Autoimmunity to tetraspanin-7 in type 1 diabetes.
These results disclosed a previously uncharacterized role of TSPAN7 in the regulation of the expression and functional activity of DRD2 by postendocytic trafficking.
Title: Functional expression of dopamine D2 receptor is regulated by tetraspanin 7-mediated postendocytic trafficking.
The role of TSPAN7 in immune system response to HIV-1 is reviewed. TSPAN7 appears to be a positive regulator of actin nucleation and stabilization, through the ARP2/3 complex. By doing so, TSPAN7 limits HIV-1 endocytosis and maintains viral particles on actin-rich dendrites for an efficient transfer toward T lymphocytes.
Title: TSPAN7, effector of actin nucleation required for dendritic cell-mediated transfer of HIV-1 to T cells.
Elevated TSPAN7 may be associated with better outcomes for multiple myeloma patients.
Title: Tetraspanin 7 (TSPAN7) expression is upregulated in multiple myeloma patients and inhibits myeloma tumour development in vivo.
Loss of TSPAN7 is associated with metastasis in clear-cell renal cell carcinoma.
Title: CD31, EDNRB and TSPAN7 are promising prognostic markers in clear-cell renal cell carcinoma revealed by genome-wide expression analyses of primary tumors and metastases.
This study identified that TSPAN7 as a key molecule for the functional maturation of dendritic spines via PICK1 and ampa receptor trafficking.
Title: The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking.
TM4SF2 was identified as a putative antigenic target in Wegener's granulomatosis
Title: Wegener's granuloma harbors B lymphocytes with specificities against a proinflammatory transmembrane protein and a tetraspanin.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Associated conditions

Description	Tests
Intellectual disability, X-linked 58 MedGen: C1846174 OMIM: 300210 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-06-22) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-06-22) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TSPAN7	PubMed
HIV-1 replication requires TSPAN7 expression; knockdown through shRNA expression decreased viral replication in monocyte derived dendritic cell and CD4+ T cell mixed cultures	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tetraspanin proteins, such as CD9, CD63, CD81, CD82, and CD231, are incorporated on the membrane of released virions in an HIV-1 envelope protein (Env)-independent manner and have the potential to inhibit HIV-1 Env-mediated infection	PubMed
Nef	nef	Both HIV-1 Nef and Vpu downregulate the cell surface expression of tetraspanin 7 (TSPAN7, CD231)	PubMed
	nef	The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein tetraspanin 7 (TSPAN7) in cells	PubMed
Vpu	vpu	Both HIV-1 Nef and Vpu downregulate the cell surface expression of tetraspanin 7 (TSPAN7, CD231)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL023926 (e-PCR)
- UniSTS:39938

AB047628 (e-PCR)
- UniSTS:480278

DXS1409 (e-PCR)
- UniSTS:99618

TM4SF2_281 (e-PCR)
- UniSTS:277824

RH68281 (e-PCR)
- UniSTS:44864

DXS1111 (e-PCR)
- UniSTS:98917

DXS989 (e-PCR), detects polymorphism
- UniSTS:11372

AL023948 (e-PCR)
- UniSTS:79728

RH46534 (e-PCR)
- UniSTS:19323

RH118630 (e-PCR)
- UniSTS:138120

DXS8345 (e-PCR)
- UniSTS:75929

DXS1692E.1 (e-PCR)
- UniSTS:99312

RH17362 (e-PCR)
- UniSTS:68850

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: tetraspanin-7

Names: CD231 antigen; T-cell acute lymphoblastic leukemia associated antigen 1; cell surface glycoprotein A15; membrane component chromosome X surface marker 1; membrane component, X chromosome, surface marker 1; tetraspanin protein; transmembrane 4 superfamily 2b; transmembrane 4 superfamily member 2; transmembrane protein A15; tspan-7

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_009160.2 RefSeqGene

Range

5002..132378

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004615.4 → NP_004606.2 tetraspanin-7

See identical proteins and their annotated locations for NP_004606.2

Status: REVIEWED

Source sequence(s)

AA757687, D29808, DB475293

Consensus CDS

CCDS14248.1

UniProtKB/Swiss-Prot

B2R5W7, D3DWB1, P41732, Q8WVG5, Q9UEY9

UniProtKB/TrEMBL

B4DDG0

Related

ENSP00000367743.2, ENST00000378482.7

Conserved Domains (2) summary

cd03161
Location:110 → 213

TM4SF2_6_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF2_6_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:15 → 237

Tetraspannin; Tetraspanin family