TSPAN7 (tetraspanin 7)

2003-11-01  

Identity

HGNC
LOCATION
Xp11.4
LOCUSID
ALIAS
A15,CCG-B7,CD231,DXS1692E,MRX58,MXS1,TALLA-1,TM4SF2,TM4SF2b
FUSION GENES

Other Information

Locus ID:

NCBI: 7102
MIM: 300096
HGNC: 11854
Ensembl: ENSG00000156298

Variants:

dbSNP: 7102
ClinVar: 7102
TCGA: ENSG00000156298
COSMIC: TSPAN7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156298ENST00000286824B4DDG0
ENSG00000156298ENST00000378482P41732
ENSG00000156298ENST00000471410F8WF53
ENSG00000156298ENST00000475216F8WC96
ENSG00000156298ENST00000480976F8WF47

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Glutamate Binding, Activation of AMPA Receptors and Synaptic PlasticityREACTOMER-HSA-399721
Trafficking of AMPA receptorsREACTOMER-HSA-399719
Trafficking of GluR2-containing AMPA receptorsREACTOMER-HSA-416993
HemostasisREACTOMER-HSA-109582
Cell surface interactions at the vascular wallREACTOMER-HSA-202733

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
204797602011Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.100
224453422012The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking.33
222131522012CD31, EDNRB and TSPAN7 are promising prognostic markers in clear-cell renal cell carcinoma revealed by genome-wide expression analyses of primary tumors and metastases.25
206300512010Egress of HSV-1 capsid requires the interaction of VP26 and a cellular tetraspanin membrane protein.9
208504772010TL and CD8αα: Enigmatic partners in mucosal immunity.9
256372182015Tetraspanin 7 (TSPAN7) expression is upregulated in multiple myeloma patients and inhibits myeloma tumour development in vivo.9
209510012011Wegener's granuloma harbors B lymphocytes with specificities against a proinflammatory transmembrane protein and a tetraspanin.8
147355932004Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?7
193399152009Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.4

Citation

Dessen P

TSPAN7 (tetraspanin 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42584/tspan7