PTPN22 Chromosome 1
Protein tyrosine phosphatase non-receptor type 22
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What This Gene Does
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Protein tyrosine phosphatases non-receptor type
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000134242
Associated Conditions (20)
PTPN22-related disorder
Uterine corpus endometrial carcinoma
Lymphoma
Thymoma
Familial cancer of breast
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Lung cancer
Familial pancreatic carcinoma
Colon adenocarcinoma
Colorectal cancer
Sarcoma
Gastric cancer
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS56048322 | Health Risk | Conflicting classifications of pathogenicity | PTPN22-related disorder, Uterine corpus endometrial carcinoma, Lymphoma |
| RS72650671 | Health Risk | Conflicting classifications of pathogenicity | PTPN22-related disorder, PTPN22-related disorder |