Entrez Gene ID | 5797 |
---|---|
Official Gene Symbol | PTPRM (GeneCards) |
Full name | protein tyrosine phosphatase, receptor type M |
Location | 18p11.23 |
Other ids | Vega : OTTHUMG00000131575 MIM : 176888 HGNC : HGNC:9675 Ensembl : ENSG00000173482 |
Other names | RPTPM, RPTPU, PTPRL1, hR-PTP, R-PTP-MU |
Summary | 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] |
Found 12 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
20220 | 5797 | PTPRM | 18 | 7748919 | 7748919 | Asymptomatic | HiSeq X Ten |
20288 | 5797 | PTPRM | 18 | 8546697 | 8546697 | Asymptomatic | HiSeq X Ten |
20292 | 5797 | PTPRM | 18 | 8374832 | 8374832 | Asymptomatic | HiSeq X Ten |
20380 | 5797 | PTPRM | 18 | 8198191 | 8198191 | Asymptomatic | HiSeq X Ten |
20457 | 5797 | PTPRM | 18 | 8065816 | 8065816 | Asymptomatic | HiSeq X Ten |
20578 | 5797 | PTPRM | 18 | 8046113 | 8046113 | Asymptomatic | HiSeq X Ten |
20579 | 5797 | PTPRM | 18 | 8088781 | 8088781 | Asymptomatic | HiSeq X Ten |
20595 | 5797 | PTPRM | 18 | 8510106 | 8510106 | Asymptomatic | HiSeq X Ten |
20730 | 5797 | PTPRM | 18 | 8068872 | 8068872 | Cockayne syndrome | HiSeq X Ten |
20731 | 5797 | PTPRM | 18 | 8482675 | 8482675 | Cockayne syndrome | HiSeq X Ten |
20758 | 5797 | PTPRM | 18 | 8070282 | 8070282 | Xeroderma Pigmentosum | HiSeq X Ten |
28355 | 5797 | PTPRM | 18 | 8164773 | 8164773 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |