Entrez Gene ID | 5796 |
---|---|
Official Gene Symbol | PTPRK (GeneCards) |
Full name | protein tyrosine phosphatase, receptor type K |
Location | 6q22.33 |
Other ids | Vega : OTTHUMG00000015536 MIM : 602545 HGNC : HGNC:9674 Ensembl : ENSG00000152894 |
Other names | R-PTP-kappa |
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 was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1002 | 5796 | PTPRK | 6 | 128306968 | 128306968 | Human Skin Fibroblasts | HiSeq 2500 |
9040 | 5796 | PTPRK | 6 | 128983685 | 128983685 | Asymptomatic | HiSeq 2500 HiSeq 2000 |
9374 | 5796 | PTPRK | 6 | 128888868 | 128888868 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
9451 | 5796 | PTPRK | 6 | 128322681 | 128322681 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
9471 | 5796 | PTPRK | 6 | 129169763 | 129169763 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
10051 | 5796 | PTPRK | 6 | 129054467 | 129054467 | Cockayne syndrome | HiSeq 2500 HiSeq 2000 HiSeq X Ten |
26084 | 5796 | PTPRK | 6 | 129150880 | 129150880 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
26143 | 5796 | PTPRK | 6 | 129150880 | 129150880 | Asymptomatic | HiSeq 2500 HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |