PTPN4 Chromosome 2
Protein tyrosine phosphatase non-receptor type 4
Upload your DNA to see your personal genotypes for variants in PTPN4.
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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing"
Locus Type
gene with protein product
Location
2q14.2
Ensembl
ENSG00000088179
Associated Conditions (5)
Papillary renal cell carcinoma type 1
Neurodevelopmental disorder
Intellectual disability
Inborn genetic diseases
PTPN4-related disorder
Key Variants
RS147418905
Likely pathogenic
Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
Health Risk
RS1677776275
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1679218434
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2466894996
Likely pathogenic
Health Risk
RS917654500
Likely pathogenic
Health Risk
RS1451229797
Pathogenic
Inborn genetic diseases, PTPN4-related disorder, Inborn genetic diseases
Health Risk
RS2105059931
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147418905 | Health Risk | Likely pathogenic | Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1 |
| RS1677776275 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1679218434 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2466894996 | Health Risk | Likely pathogenic | — |
| RS917654500 | Health Risk | Likely pathogenic | — |
| RS1451229797 | Health Risk | Pathogenic | Inborn genetic diseases, PTPN4-related disorder, Inborn genetic diseases |
| RS2105059931 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |