PTPN22 (protein tyrosine phosphatase non-receptor type 22)

2012-03-01  

Identity

HGNC
PTPN22
LOCATION
1p13.2
LOCUSID
26191
ALIAS
LYP,LYP1,LYP2,PEP,PTPN22.5,PTPN22.6,PTPN8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26191
MIM: 600716
HGNC: 9652
Ensembl: ENSG00000134242

Variants:

dbSNP: 26191
ClinVar: 26191
TCGA: ENSG00000134242
COSMIC: PTPN22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134242ENST00000359785A0A0B4J1S7
ENSG00000134242ENST00000420377E9PMT0
ENSG00000134242ENST00000460620Q9Y2R2
ENSG00000134242ENST00000525799A0A0A0MTD9
ENSG00000134242ENST00000528414A0A0A0MTE6
ENSG00000134242ENST00000529045E9PMK2
ENSG00000134242ENST00000532224E9PM87
ENSG00000134242ENST00000538253F5H2S8

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Phosphorylation of CD3 and TCR zeta chainsREACTOMER-HSA-202427
Translocation of ZAP-70 to Immunological synapseREACTOMER-HSA-202430

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
182044462008Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.488
152087812004A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.410
152087812004A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.410
192649852009Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.405
178048362007TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.333
190739672008Shared and distinct genetic variants in type 1 diabetes and celiac disease.249
162731092005Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.212
152739342004Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.186
152739342004Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.186
179824552007Rheumatoid arthritis association at 6q23.168

Citation

Dessen P

PTPN22 (protein tyrosine phosphatase non-receptor type 22)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52604/ptpn22