PTPRM Chromosome 18

Protein tyrosine phosphatase receptor type M
1 variant 1 Health Risk

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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 catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
18p11.23
Ensembl
ENSG00000173482
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS760897331 Health Risk Conflicting classifications of pathogenicity
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