Free for academic non-profit institutions. Other users need a Commercial license
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 (Protein Tyrosine Phosphatase Non-Receptor Type 22) is a Protein Coding gene. Diseases associated with PTPN22 include Systemic Lupus Erythematosus and Rheumatoid Arthritis. Among its related pathways are CTLA4 Signaling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPN12.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004725 | protein tyrosine phosphatase activity | IEA,TAS | -- |
GO:0004726 | non-membrane spanning protein tyrosine phosphatase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 10068674 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 10940933 |
GO:0005737 | cytoplasm | IEA,TAS | 20401454 |
GO:0005829 | cytosol | TAS | -- |
GO:0009898 | cytoplasmic side of plasma membrane | IEA,IDA | 10940933 |
GO:0048471 | perinuclear region of cytoplasm | IDA | 10068674 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Translocation of ZAP-70 to Immunological synapse | ||
2 | NF-kappaB Signaling | ||
3 | CTLA4 Signaling |
CTLA4 Signaling
-
|
|
4 | PAK Pathway |
Epithelial Adherens Junctions
.36
|
|
5 | Class I MHC mediated antigen processing and presentation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002230 | positive regulation of defense response to virus by host | IEA,IBA | 21873635 |
GO:0002376 | immune system process | IEA | -- |
GO:0002685 | regulation of leukocyte migration | IEA | -- |
GO:0006470 | protein dephosphorylation | IEA,TAS | 21044313 |
GO:0006914 | autophagy | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTPN22 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTPN22 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTPN22 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ptpn22 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptpn22 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTPN22 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PTPN22 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTPN22 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTPN22 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptpn22 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptpn22 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | T22C1.8 32 |
|
|
|
ZK616.7 32 |
|
|
|||
M04G7.2 32 |
|
|
|||
Y41D4A.5 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721090 | Benign: not provided | 113,834,363(-) | A/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
721470 | Likely Benign: not provided | 113,837,993(-) | A/G | SYNONYMOUS_VARIANT | |
733772 | Likely Benign: not provided | 113,837,969(-) | A/G | SYNONYMOUS_VARIANT | |
734921 | Benign: not provided | 113,859,082(-) | T/C | INTRON_VARIANT | |
738660 | Likely Benign: not provided | 113,837,852(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv23869 | CNV | loss | 19812545 |
esv3587239 | CNV | loss | 21293372 |
esv3587240 | CNV | loss | 21293372 |
esv3587250 | CNV | loss | 21293372 |
esv3587251 | CNV | loss | 21293372 |
nsv473902 | CNV | novel sequence insertion | 20440878 |
nsv831093 | CNV | loss | 17160897 |
nsv951398 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
systemic lupus erythematosus |
|
|
rheumatoid arthritis |
|
|
diabetes mellitus, type i |
|
|
vitiligo-associated multiple autoimmune disease susceptibility 6 |
|
|
vogt-koyanagi-harada disease |
|
|