PTPN22 gene homepage

General information
Gene symbol PTPN22
Gene name protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
Chromosome 1
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_011432.1
Transcript reference NM_015967.5
Associated with diseases IDDM, RA, SLE
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 54
Unique public DNA variants reported 41
Individuals with public variants 921
Hidden variants 0
Date created May 03, 2013
Date last updated November 30, 2018
Version PTPN22:181130

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9652
Entrez Gene 26191
PubMed articles PTPN22
OMIM - Gene 600716
OMIM - Diseases IDDM (diabetes mellitus, insulin-dependent (IDDM))
RA (arthritis, rheumatoid (RA))
SLE (lupus erythematosus, systemic, susceptibility to (SLE))

Active transcripts




NCBI ID     

NCBI Protein ID     

00017153 1 transcript variant 1 NM_015967.5 NP_057051.3 54

Copyright & disclaimer
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