Protein Tyrosine Phosphatase, Nonreceptor-Type, 22

Alternative Names

  • PTPN22
  • Pest-Domain Phosphatase
  • PEP
  • Lymphoid Phosphatase
  • LYP
  • Protein-Tyrosine Phosphatase, Nonreceptor-Type 8
  • PTPN8

Associated Diseases

Type 1 Diabetes Mellitus
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OMIM Number

600716

NCBI Gene ID

26191

Uniprot ID

Q9Y2R2

Length

57,951 bases

No. of Exons

24

No. of isoforms

6

Protein Name

Tyrosine-protein phosphatase non-receptor type 22

Molecular Mass

91705 Da

Amino Acid Count

807

Genomic Location

chr1:113,813,810-113,871,760

Gene Map Locus
1p13.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015967.7:c.1858=United Arab EmiratesNC_000001.11:g.113834946A>GBenignAssociationType 1 Diabetes MellitusNM_015967.7:c.1858=; NP_057051.3:p.Arg620Trp24766018909
NM_015967.7:c.2054-852T>CUnited Arab EmiratesNC_000001.11:g.113830881A>GAssociationType 1 Diabetes MellitusNG_011432.1:g.45873T>C; NM_015967.7:c.2054-852T>C; NP_057051.3:p.?1310182
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