TSPAN7 - tetraspanin 7 Gene

Homo sapiens

Also known as A15; MXS1; CD231; MRX58; CCG-B7; TM4SF2; XLID58; TALLA-1; TM4SF2b; DXS1692E

Gene ID: 7102 | Gene type: protein coding

About TSPAN7

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:38,561,542-38,688,918 (from NCBI)

This gene has 8 transcripts (splice variants), 272 orthologues, 32 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 306.6), adrenal (RPKM 70.3) and 14 other tissues.

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]

TSPAN7 Products(1)

mRNA	Protein	Name
NM_004615.4	NP_004606.2	tetraspanin-7

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSPAN7 Protein Structure

Tetraspannin

0
100
200
249 a.a.

Protein Preferred Names

Protein Names

tetraspanin-7

CD231 antigen

Recombinant TSPAN7 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77497	TM4SF2/TSPAN7 Protein, Human (HEK293, His)	AAH18036.1 (R113-M213)	≥95%

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 58

XLID58	Mrx58
Mental Retardation, X-Linked 58

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 58

Mrx58

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia	Acute T Cell Leukemia
Precursor T Lymphoblastic Leukemia	Precursor T-Lymphoblastic Lymphoma/Leukemia
T Acute Lymphoblastic Leukemia	T-Cell Acute Lymphocytic Leukaemia
T-Cell Lymphoblastic Leukemia/Lymphoma	Leukemia T-Cell
Leukemia, T-Cell	Leukemia, Acute, Lymphoblastic, T-Cell
Leukemia, T-Cell Acute Lymphoblastic	Leukemia, Acute T-Cell
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Precursor T-Cell Lymphoblastic Lymphoma
Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Syndromic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 91

Mrx91

Non-Syndromic X-Linked Intellectual Disability 106

Mrx106

X-Linked Mental Retardation 106

Non-Syndromic X-Linked Intellectual Disability 98

Mrx98

X-Linked Mental Retardation 98

Non-Syndromic X-Linked Intellectual Disability 9

Mrx44	Mrx9
X-Linked Mental Retardation 44

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15173	TSPAN7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TSPAN7	MGD	MGI:1298407
Rattus norvegicus	TSPAN7	RGD	RGD:1589725
Macaca fascicularis	TSPAN7	NCBI	NCBI:102127880
Others	TSPAN7	NCBI

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