TSPAN7 Chromosome X
Tetraspanin 7
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Tetraspanins"
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000156298
Associated Conditions (3)
Intellectual disability
X-linked 58
History of neurodevelopmental disorder
Key Variants
RS104894951
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 58, History of neurodevelopmental disorder
Health Risk
RS104894950
Pathogenic
Intellectual disability, X-linked 58, Intellectual disability
Health Risk
RS2147452502
Pathogenic
Intellectual disability, X-linked 58, Intellectual disability
Health Risk
RS2518967233
Pathogenic
Intellectual disability, X-linked 58, Intellectual disability
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894951 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 58, History of neurodevelopmental disorder |
| RS104894950 | Health Risk | Pathogenic | Intellectual disability, X-linked 58, Intellectual disability |
| RS2147452502 | Health Risk | Pathogenic | Intellectual disability, X-linked 58, Intellectual disability |
| RS2518967233 | Health Risk | Pathogenic | Intellectual disability, X-linked 58, Intellectual disability |