| Variant ID | 9040 |
|---|---|
| Entrez Gene ID | 5796 |
| Gene | PTPRK (GeneCards) |
| Location | hg19 6:128983685-128983685
hg38 6:128662540-128662540 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000006.11:g.128983685 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1907 |
| CADD Raw score (version 1.3) | 0.098554 (Deleterious) |
| FATHMM raw prediction score | 0.15962 (Tolerated) |
| Deleterious probability by DeFine | 0.5963 (Deleterious) |
| Entrez Gene ID | 5796 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPRK (GeneCards) |
| Number of variants in PTPRK in this database | 8 (view all the variants) |
| Full name | protein tyrosine phosphatase, receptor type K |
| Band | 6q22.33 |
| Other IDs | Vega: OTTHUMG00000015536 OMIM: 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] |
| Individual ID | 29217584.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |