PTPN22 protein tyrosine phosphatase non-receptor type 22
Gene ID: 26191, updated on 4-Jan-2025Gene type: protein coding
Also known as: LYP; PEP; LYP1; LYP2; PTPN8; PTPN22.5; PTPN22.6
- See all available tests in GTR for this gene
- Go to complete Gene record for PTPN22
- Go to Variation Viewer for PTPN22 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. GeneReviews: Not available | |
| A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. GeneReviews: Not available | |
| Common variants at CD40 and other loci confer risk of rheumatoid arthritis. GeneReviews: Not available | |
| Diabetes mellitus type 1 | See labs |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. GeneReviews: Not available | |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available | |
| Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. GeneReviews: Not available | |
| Novel associations for hypothyroidism include known autoimmune risk loci. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. GeneReviews: Not available | |
| REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. GeneReviews: Not available | |
| Rheumatoid arthritis | See labs |
| Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. GeneReviews: Not available | |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. GeneReviews: Not available | |
| Systemic lupus erythematosus | See labs |
| TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. GeneReviews: Not available | |
| Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. GeneReviews: Not available |
Genomic context
- Location:
- 1p13.2
- Sequence:
- Chromosome: 1; NC_000001.11 (113813811..113871759, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PTPN22 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PTPN22 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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