TSPAN7 - tetraspanin 7 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7102

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
Molecular Function GO Annotation Evidence Verweise 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

Tetraspannin: Tetraspanin family (14 - 239)

  • 0
  • 100
  • 200
  • 249 a.a.
Protein Preferred Names Protein Names

tetraspanin-7

  • CD231 antigen

TSPAN7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TSPAN7 P41732 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TSPAN7 P41732 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TSPAN7 P41732 GPR152 Homo sapiens Q8TDT2 32296183
Intra
TSPAN7 P41732 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
TSPAN7 P41732 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
TSPAN7 P41732 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
TSPAN7 P41732 FAM209A Homo sapiens Q5JX71 32296183
Intra
TSPAN7 P41732 FAM209A Homo sapiens Q5JX71 32296183
Intra
TSPAN7 P41732 FAM209A Homo sapiens Q5JX71 32296183
Intra
TSPAN7 P41732 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
TSPAN7 P41732 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
TSPAN7 P41732 LHFPL5 Homo sapiens Q8TAF8 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TSPAN7 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P77497 TM4SF2/TSPAN7 Protein, Human (HEK293, His) AAH18036.1 (R113-M213) ≥ 95%, as determined by reducing SDS-PAGE.

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

Orthologs Information

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