PTPN23 Chromosome 3
Protein tyrosine phosphatase non-receptor type 23
Upload your DNA to see your personal genotypes for variants in PTPN23.
What This Gene Does
This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Protein tyrosine phosphatases non-receptor type
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000076201
Associated Conditions (8)
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Inborn genetic diseases
PTPN23-related disorder
Global developmental delay
Brain atrophy
Neurodevelopmental disorder
Hereditary spastic paraplegia
Seizure
Key Variants
RS111852098
Conflicting classifications of pathogenicity
Health Risk
RS1200249357
Conflicting classifications of pathogenicity
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Health Risk
RS138329311
Conflicting classifications of pathogenicity
Health Risk
RS138754006
Conflicting classifications of pathogenicity
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Health Risk
RS139178679
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141082182
Conflicting classifications of pathogenicity
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Health Risk
RS144025762
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145450943
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146178681
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Inborn genetic diseases
Health Risk
RS148987427
Conflicting classifications of pathogenicity
PTPN23-related disorder, PTPN23-related disorder
Health Risk
RS149197378
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150589115
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2546248424 | Health Risk | Pathogenic | — |
| RS2546249724 | Health Risk | Pathogenic | — |
| RS2546251685 | Health Risk | Pathogenic | — |
| RS2546251911 | Health Risk | Pathogenic | — |
| RS2546252750 | Health Risk | Pathogenic | — |
| RS2546256203 | Health Risk | Pathogenic | — |
| RS748130198 | Health Risk | Pathogenic | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity |
| RS752515390 | Health Risk | Pathogenic | — |
| RS752707578 | Health Risk | Pathogenic | — |
| RS753073710 | Health Risk | Pathogenic | — |
| RS758419807 | Health Risk | Pathogenic | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity |
| RS767366095 | Health Risk | Pathogenic | — |
| RS767454205 | Health Risk | Pathogenic | — |
| RS775550926 | Health Risk | Pathogenic | — |
| RS2107717354 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS730882229 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Seizure, Brain atrophy |
| RS760750644 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity |
| RS770411657 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS779096974 | Health Risk | Pathogenic/Likely pathogenic | Brain atrophy, Global developmental delay, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity |