PTPN22

Also known as protein tyrosine phosphatase, non-receptor type 22 (lymphoid), LYP, LYP1, LYP2, PEP, PTPN8, protein tyrosine phosphatase, non-receptor type 22, PTPN22.6

Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a cytoplasmatic protein encoded by gene PTPN22 and a member of PEST family of protein tyrosine phosphatases. This protein is also called "PEST-domain Enriched Phosphatase" ("PEP") or "Lymphoid phosphatase" ("LYP"). The name LYP is used strictly for the human protein encoded by PTPN22, but the name PEP is used only for its mouse homolog. However, both proteins have similar biological functions and show 70% identity in amino acid sequence. PTPN22 functions as a negative regulator of T cell receptor (TCR) signaling, which maintains hom

Gene data

PTPN22

Name: protein tyrosine phosphatase non-receptor type 22
Type: protein-coding
Position: 113,813,811–113,871,753 (−)
Aliases: LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8
Ensembl: ENSG00000134242
RefSeq RNA: NM_001193431.3, NM_001308297.2, NM_012411.6, NM_015967.8, XM_011541221.2
RefSeq protein: NP_001180360.2, NP_001295226.2, NP_036543.5, NP_057051.4, XP_011539523.1

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 Ontology

Biological process

~12 min read

Article

13 sections

Contents

Gene
Structure
Function
Regulation of T cell receptor signaling
Regulation of regulatory T cells
Regulation of adhesiveness and motility
Interaction partners
Regulation of PTPN22
PTPN22-deficient mice
Disease associated variant of PTPN22
References
Further reading
External links

==Gene== Gene PTPN22 is located on the p arm of the human chromosome 1. It is nearly 58 000 base pairs long and contains 21 exons. In the case of mouse genome, it is located on the q arm of the chromosome 3. It is nearly 55 700 base pairs long and contains 23 exons.