PTPN22 - protein tyrosine phosphatase non-receptor type 22 Gene
Also Known as LYP; PEP; LYP1; LYP2; PTPN8; PTPN22.5; PTPN22.6
Species: Homo sapiens
About PTPN22
This gene has 11 transcripts (splice variants), 125 orthologues, 35 paralogues and is associated with 9 phenotypes. Biased expression in bone marrow (RPKM 9.6), lymph node (RPKM 7.9) and 13 other tissues.
Summary
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]
PTPN22 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001193431.2 | NP_001180360.1 | tyrosine-protein phosphatase non-receptor type 22 isoform 3 |
| NM_001308297.1 | NP_001295226.1 | tyrosine-protein phosphatase non-receptor type 22 isoform 4 |
| NM_012411.5 | NP_036543.4 | tyrosine-protein phosphatase non-receptor type 22 isoform 2 |
| NM_015967.8 | NP_057051.4 | tyrosine-protein phosphatase non-receptor type 22 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables phosphatase activity |
IDA
IDA: Inferred from direct assay
|
23991106 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10068674 | GOA |
| enables protein tyrosine phosphatase activity |
IDA
IDA: Inferred from direct assay
|
10068674 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
23871208 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10068674 | GOA |
| located in cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
10940933 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10940933 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
10068674 | GOA |
PTPN22 Protein Structure
Y_phosphatase: Protein-tyrosine phosphatase (54 - 288)
- 0
- 200
- 400
- 600
- 807 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tyrosine-protein phosphatase non-receptor type 22 |
|
PTPN22 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PTPN22 | Q9Y2R2 | PSTPIP1 | Homo sapiens | O43586 | 25040622 | |
|
Intra
|
PTPN22 | Q9Y2R2 | CD247 | Homo sapiens | P20963 | 16461343 | |
|
Intra
|
PTPN22 | Q9Y2R2 | CD247 | Homo sapiens | P20963 | 16461343 | |
|
Intra
|
PTPN22 | Q9Y2R2 | ZAP70 | Homo sapiens | P43403 | 16461343 | |
|
Intra
|
PTPN22 | Q9Y2R2 | ZAP70 | Homo sapiens | P43403 | 16461343 | |
|
Intra
|
PTPN22 | Q9Y2R2 | LCK | Homo sapiens | P06239 | 19167335 | |
|
Intra
|
PTPN22 | Q9Y2R2 | LCK | Homo sapiens | P06239 | 16461343 | |
|
Intra
|
PTPN22 | Q9Y2R2 | LCK | Homo sapiens | P06239 | 16461343 | |
|
Intra
|
PTPN22 | Q9Y2R2 | LCK | Homo sapiens | P06239 | 21719704 | |
|
Intra
|
PTPN22 | Q9Y2R2 | SKAP2 | Homo sapiens | O75563 | 21719704 | |
|
Intra
|
PTPN22 | Q9Y2R2 | SKAP2 | Homo sapiens | O75563 | 21719704 | |
|
Intra
|
PTPN22 | Q9Y2R2 | EGFR | Homo sapiens | P00533 | 24658140 | |
|
Intra
|
PTPN22 | Q9Y2R2 | TRAF3 | Homo sapiens | Q13114 | 23871208 | |
|
Intra
|
PTPN22 | Q9Y2R2 | GRB2 | Homo sapiens | P62993 | 11882361 | |
|
Intra
|
PTPN22 | Q9Y2R2 | GRB2 | Homo sapiens | P62993 | 11882361 | |
|
Cross
|
PTPN22 | Q9Y2R2 | Traf3 | Mus musculus | Q60803 | 23871208 | |
|
Cross
|
PTPN22 | Q9Y2R2 | Traf3 | Mus musculus | Q60803 | 23871208 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Systemic Lupus Erythematosus |
|
|
| Rheumatoid Arthritis |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
|
| Hypoadrenocorticism, Familial |
|
|
| Vogt-Koyanagi-Harada Disease |
|
|
| Temporal Arteritis |
|
|
| Hashimoto Thyroiditis |
|
|
| Arthritis |
|
|
| Lupus Erythematosus |
|
|
| Granulomatosis With Polyangiitis |
|
|
| Graves' Disease |
|
|
| Oligoarticular Juvenile Idiopathic Arthritis |
|
|
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
|
| Autoimmune Disease |
|
|
| Scleritis |
|
|
| Psoriatic Arthritis |
|
|
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
|
| Alopecia Areata |
|
|
| Type 1 Diabetes Mellitus 5 |
|
|
| Chronic Mucocutaneous Candidiasis |
|
|
| Lymphopenia |
|
|
| Thyroiditis |
|
|
| Achalasia |
|
|
| Crohn'S Disease |
|
|
| Celiac Disease 1 |
|
|
| Chronic Urticaria |
|
|
| Adrenal Cortical Hypofunction |
|
|
| Myasthenia Gravis |
|
|
| Diabetes Mellitus |
|
|
| Turner Syndrome |
|
|
| Autoimmune Hepatitis |
|
|
| Psoriasis |
|
|
| Type 1 Diabetes Mellitus 2 |
|
|
| Autoimmune Disease Of Endocrine System |
|
|
| Inflammatory Bowel Disease |
|
|
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
|
| Pernicious Anemia |
|
|
| Multiple Sclerosis |
|
|
| Hypothyroidism |
|
|
| Adrenal Cortex Disease |
|
|
| Juvenile Rheumatoid Arthritis |
|
|
| Autoimmune Polyendocrine Syndrome |
|
|
| Autoimmune Disease Of Musculoskeletal System |
|
|
| Bone Inflammation Disease |
|
|
| Thrombocytopenia |
|
|
| Behcet Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | PTPN22 | MGD | MGI:107170 |
| Macaca mulatta | PTPN22 | VGNC | VGNC:76603 |
| Felis catus | PTPN22 | VGNC | VGNC:82499 |
| Canis familiaris | PTPN22 | VGNC | VGNC:45175 |
| Rattus norvegicus | PTPN22 | RGD | RGD:1307992 |
| Bos taurus | PTPN22 | VGNC | VGNC:33536 |
| Others | PTPN22 | NCBI |