PTPRT Chromosome 20
Protein tyrosine phosphatase receptor type T
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What This Gene Does
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|Immunoglobulin like domain containing|Protein tyrosine phosphatases receptor type"
Locus Type
gene with protein product
Location
20q12-q13.11
Ensembl
ENSG00000196090
Associated Conditions (2)
Autism spectrum disorder
Abnormal brain morphology
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS768757373 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS1060499749 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS762135776 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |