Ptpn22 - SNV Details



 Human Rare Diseases 
Wegener granulomatosis

 Gene Information 
Gene Name Ptpn22
Old Gene Names for Ptpn22 Ptpn8
Gene Description protein tyrosine phosphatase, non-receptor type 22 (lymphoid) [Source:MGI Symbol;Acc:MGI:107170]
MGI phenotype Homozygous null mice display antigen dependent increases in T cell proliferation and cytokine production, enlarged spleens and lymph nodes, increased spontaneous germinal center formation, increased B cell numbers, and increased serum IgG and IgE levels.
Uniprot Name
CCDS Name
Gene GO
perinuclear region of cytoplasm; protein dephosphorylation; cytoplasm; SH3 domain binding; dephosphorylation; regulation of natural killer cell proliferation; negative regulation of T cell activation; phosphoanandamide dephosphorylation; protein tyrosine phosphatase activity; protein binding; kinase binding; nucleus; negative regulation of T cell receptor signaling pathway; internal side of plasma membrane; peptidyl-tyrosine dephosphorylation; phosphatase activity; T cell differentiation; T cell receptor signaling pathway
Homolog in other species PTPN22
Omim http://omim.org/entry/600716
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP,MO.6C+II-.LN, B.FO.SP, B.MZ.SP, B1A.PC)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027843
Chromosome 3
Coordinate 103,886,336     (Assembly: GRCm38)    
Ref Base T
Codon Change gTa/gAa
Var Base A
Zygosity Heterozygous
Read Depth 53
Allele Frequency
T:R0.43
A:V0.55
Amino Acid Position 601
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL01943
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.35
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000029433:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Non-receptor tyrosine-protein phosphatase, 8/22 Non-rcpt_Tyr_Pase_8/22 IPR016276 ENSMUSP00000029433 PIRSF 1
802 Description available Search pathways

 Availability Details 
Availability Cryopreserved