Phosphatase Subfamily PTPN12
Phosphatase Classification: Fold CC1:Superfamily CC1: Family PTP: Subfamily PTPN12 (PTP-PEST)
Evolution
Domain
Functions
PTPN12 (PTP-PEST/PTPG1)
PTPN12 is widely expressed in different tissues and at relatively low level in brain (GTEx).
PTPN18 (BDP1/PTP-HSCF)
PTPN18 is most abundantly expressed in spleen (GTEx).
PTPN22 (LYP/PEP/PTPN8)
PTPN22 is expressed in certain tissues and cell types, including EBV-transformed lymphocytes, whole blood, spleen and small intestine - terminal ileum (GTEx).
PTPN22 locus with autoimmune diseases [1, 2, 3]. In particular, missense single-nucleotide polymorphism (SNP) R620W is associated with rheumatoid arthritis (RA) [4, 5, 6], systemic lupus erythematosus (SLE) [6, 7, 8], type 1 diabetes (T1D) [1], Hashimoto thyroiditis [1], juvenile idiopathic arthritis (JIA) [9], Grave's disease (GD) [9]. However, multiple sclerosis (MS) did not show association with R620W [1].
References
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