PTPRD Chromosome 9
Protein tyrosine phosphatase receptor type D
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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 contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type|LAR protein receptor tyrosine phosphatase family"
Locus Type
gene with protein product
Location
9p24.1-p23
Ensembl
ENSG00000153707
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114777847 | Health Risk | Conflicting classifications of pathogenicity | — |