Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 26191
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol PTPN22   Gene   UCSC   Ensembl
Aliases LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8
Gene name protein tyrosine phosphatase, non-receptor type 22
Alternate names tyrosine-protein phosphatase non-receptor type 22, PEST-domain phosphatase, hematopoietic cell protein-tyrosine phosphatase 70Z-PEP, lymphoid-specific protein tyrosine phosphatase, protein tyrosine phosphatase, non-receptor type 22 (lymphoid), protein tyrosine,
Gene location 1p13.2 (113871760: 113813810)     Exons: 24     NC_000001.11
Gene summary(Entrez) 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]
OMIM 600716

Protein Summary
Protein general information Q9Y2R2  

Name: Tyrosine protein phosphatase non receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein tyrosine phosphatase 70Z PEP) (Lymphoid phosphatase) (LyP) (PEST domain phosphatase) (PEP)

Length: 807  Mass: 91,705

Tissue specificity: Expressed in bone marrow, B and T-cells, PBMCs, natural killer cells, monocytes, dendritic cells and neutrophils (PubMed

Sequence MDQREILQKFLDEAQSKKITKEEFANEFLKLKRQSTKYKADKTYPTTVAEKPKNIKKNRYKDILPYDYSRVELSL
ITSDEDSSYINANFIKGVYGPKAYIATQGPLSTTLLDFWRMIWEYSVLIIVMACMEYEMGKKKCERYWAEPGEMQ
LEFGPFSVSCEAEKRKSDYIIRTLKVKFNSETRTIYQFHYKNWPDHDVPSSIDPILELIWDVRCYQEDDSVPICI
HCSAGCGRTGVICAIDYTWMLLKDGIIPENFSVFSLIREMRTQRPSLVQTQEQYELVYNAVLELFKRQMDVIRDK
HSGTESQAKHCIPEKNHTLQADSYSPNLPKSTTKAAKMMNQQRTKMEIKESSSFDFRTSEISAKEELVLHPAKSS
TSFDFLELNYSFDKNADTTMKWQTKAFPIVGEPLQKHQSLDLGSLLFEGCSNSKPVNAAGRYFNSKVPITRTKST
PFELIQQRETKEVDSKENFSYLESQPHDSCFVEMQAQKVMHVSSAELNYSLPYDSKHQIRNASNVKHHDSSALGV
YSYIPLVENPYFSSWPPSGTSSKMSLDLPEKQDGTVFPSSLLPTSSTSLFSYYNSHDSLSLNSPTNISSLLNQES
AVLATAPRIDDEIPPPLPVRTPESFIVVEEAGEFSPNVPKSLSSAVKVKIGTSLEWGGTSEPKKFDDSVILRPSK
SVKLRSPKSELHQDRSSPPPPLPERTLESFFLADEDCMQAQSIETYSTSYPDTMENSTSSKQTLKTPGKSFTRSK
SLKILRNMKKSICNSCPPNKPAESVQSNNSSSFLNFGFANRFSKPKGPRNPPPTWNI
Structural information
Protein Domains
 Tyrosine-protein (24-289)
Interpro:  IPR029021 IPR000242 IPR016276 IPR016130 IPR003595 IPR000387
Prosite:   PS00383 PS50056 PS50055

Pfam:  		 PF00102

PDB:  		 2P6X 2QCJ 2QCT 3BRH 3H2X 3OLR 3OMH 4J51
PDBsum:   2P6X 2QCJ 2QCT 3BRH 3H2X 3OLR 3OMH 4J51

DIP:  		 29953
STRING:   ENSP00000352833;
Other Databases GeneCards:  PTPN22;  Malacards:  PTPN22

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0006470 protein dephosphorylation
 IDA biological_process
GO:0006470 protein dephosphorylation
 TAS biological_process
GO:0006914 autophagy
 IEA biological_process
GO:0009898 cytoplasmic side of plasm
a membrane
 IDA cellular_component
GO:0010507 negative regulation of au
tophagy
 IMP biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010629 negative regulation of ge
ne expression
 IMP biological_process
GO:0016791 phosphatase activity
 IDA molecular_function
GO:0017124 SH3 domain binding
 ISS molecular_function
GO:0019900 kinase binding
 ISS molecular_function
GO:0030217 T cell differentiation
 ISS biological_process
GO:0031625 ubiquitin protein ligase
binding
 IPI molecular_function
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
 IMP biological_process
GO:0032481 positive regulation of ty
pe I interferon productio
n
 IMP biological_process
GO:0032496 response to lipopolysacch
aride
 IMP biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
 IMP biological_process
GO:0032817 regulation of natural kil
ler cell proliferation
 IDA biological_process
GO:0034141 positive regulation of to
ll-like receptor 3 signal
ing pathway
 IMP biological_process
GO:0034145 positive regulation of to
ll-like receptor 4 signal
ing pathway
 IMP biological_process
GO:0035335 peptidyl-tyrosine dephosp
horylation
 IEA biological_process
GO:0035644 phosphoanandamide dephosp
horylation
 ISS biological_process
GO:0043508 negative regulation of JU
N kinase activity
 IMP biological_process
GO:0045088 regulation of innate immu
ne response
 IC biological_process
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular_component
GO:0050855 regulation of B cell rece
ptor signaling pathway
 NAS biological_process
GO:0050860 negative regulation of T
cell receptor signaling p
athway
 IDA biological_process
GO:0050868 negative regulation of T
cell activation
 IMP biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IMP biological_process
GO:0070433 negative regulation of nu
cleotide-binding oligomer
ization domain containing
2 signaling pathway
 IMP biological_process
GO:0071225 cellular response to mura
myl dipeptide
 IDA biological_process
GO:1900165 negative regulation of in
terleukin-6 secretion
 IMP biological_process
GO:1901222 regulation of NIK/NF-kapp
aB signaling
 IMP biological_process
GO:1902523 positive regulation of pr
otein K63-linked ubiquiti
nation
 IMP biological_process
GO:1902715 positive regulation of in
terferon-gamma secretion
 IMP biological_process
GO:1903753 negative regulation of p3
8MAPK cascade
 IMP biological_process
GO:2000483 negative regulation of in
terleukin-8 secretion
 IMP biological_process
GO:0002376 immune system process
 IEA biological_process
GO:0004721 phosphoprotein phosphatas
e activity
 IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IEA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0006470 protein dephosphorylation
 IEA biological_process
GO:0006470 protein dephosphorylation
 IDA biological_process
GO:0006470 protein dephosphorylation
 TAS biological_process
GO:0006914 autophagy
 IEA biological_process
GO:0009898 cytoplasmic side of plasm
a membrane
 IDA cellular_component
GO:0010507 negative regulation of au
tophagy
 IMP biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010629 negative regulation of ge
ne expression
 IMP biological_process
GO:0016311 dephosphorylation
 IEA biological_process
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0016791 phosphatase activity
 IEA molecular_function
GO:0016791 phosphatase activity
 IDA molecular_function
GO:0017124 SH3 domain binding
 ISS molecular_function
GO:0019900 kinase binding
 ISS molecular_function
GO:0030217 T cell differentiation
 ISS biological_process
GO:0031625 ubiquitin protein ligase
binding
 IPI molecular_function
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
 IMP biological_process
GO:0032481 positive regulation of ty
pe I interferon productio
n
 IMP biological_process
GO:0032496 response to lipopolysacch
aride
 IMP biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
 IMP biological_process
GO:0032817 regulation of natural kil
ler cell proliferation
 IDA biological_process
GO:0034141 positive regulation of to
ll-like receptor 3 signal
ing pathway
 IMP biological_process
GO:0034145 positive regulation of to
ll-like receptor 4 signal
ing pathway
 IMP biological_process
GO:0035335 peptidyl-tyrosine dephosp
horylation
 IEA biological_process
GO:0035644 phosphoanandamide dephosp
horylation
 ISS biological_process
GO:0043508 negative regulation of JU
N kinase activity
 IMP biological_process
GO:0045088 regulation of innate immu
ne response
 IC biological_process
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular_component
GO:0050855 regulation of B cell rece
ptor signaling pathway
 NAS biological_process
GO:0050856 regulation of T cell rece
ptor signaling pathway
 IEA biological_process
GO:0050860 negative regulation of T
cell receptor signaling p
athway
 IDA biological_process
GO:0050868 negative regulation of T
cell activation
 IMP biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IMP biological_process
GO:0070433 negative regulation of nu
cleotide-binding oligomer
ization domain containing
2 signaling pathway
 IMP biological_process
GO:0071225 cellular response to mura
myl dipeptide
 IDA biological_process
GO:1900165 negative regulation of in
terleukin-6 secretion
 IMP biological_process
GO:1901222 regulation of NIK/NF-kapp
aB signaling
 IMP biological_process
GO:1902523 positive regulation of pr
otein K63-linked ubiquiti
nation
 IMP biological_process
GO:1902715 positive regulation of in
terferon-gamma secretion
 IMP biological_process
GO:1903753 negative regulation of p3
8MAPK cascade
 IMP biological_process
GO:2000483 negative regulation of in
terleukin-8 secretion
 IMP biological_process
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0004725 protein tyrosine phosphat
ase activity
 IDA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0006470 protein dephosphorylation
 IDA biological_process
GO:0006470 protein dephosphorylation
 TAS biological_process
GO:0009898 cytoplasmic side of plasm
a membrane
 IDA cellular_component
GO:0010507 negative regulation of au
tophagy
 IMP biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010628 positive regulation of ge
ne expression
 IMP biological_process
GO:0010629 negative regulation of ge
ne expression
 IMP biological_process
GO:0016791 phosphatase activity
 IDA molecular_function
GO:0017124 SH3 domain binding
 ISS molecular_function
GO:0019900 kinase binding
 ISS molecular_function
GO:0030217 T cell differentiation
 ISS biological_process
GO:0031625 ubiquitin protein ligase
binding
 IPI molecular_function
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
 IMP biological_process
GO:0032481 positive regulation of ty
pe I interferon productio
n
 IMP biological_process
GO:0032496 response to lipopolysacch
aride
 IMP biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
 IMP biological_process
GO:0032817 regulation of natural kil
ler cell proliferation
 IDA biological_process
GO:0034141 positive regulation of to
ll-like receptor 3 signal
ing pathway
 IMP biological_process
GO:0034145 positive regulation of to
ll-like receptor 4 signal
ing pathway
 IMP biological_process
GO:0035644 phosphoanandamide dephosp
horylation
 ISS biological_process
GO:0043508 negative regulation of JU
N kinase activity
 IMP biological_process
GO:0045088 regulation of innate immu
ne response
 IC biological_process
GO:0048471 perinuclear region of cyt
oplasm
 IDA cellular_component
GO:0050855 regulation of B cell rece
ptor signaling pathway
 NAS biological_process
GO:0050860 negative regulation of T
cell receptor signaling p
athway
 IDA biological_process
GO:0050868 negative regulation of T
cell activation
 IMP biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IMP biological_process
GO:0070433 negative regulation of nu
cleotide-binding oligomer
ization domain containing
2 signaling pathway
 IMP biological_process
GO:0071225 cellular response to mura
myl dipeptide
 IDA biological_process
GO:1900165 negative regulation of in
terleukin-6 secretion
 IMP biological_process
GO:1901222 regulation of NIK/NF-kapp
aB signaling
 IMP biological_process
GO:1902523 positive regulation of pr
otein K63-linked ubiquiti
nation
 IMP biological_process
GO:1902715 positive regulation of in
terferon-gamma secretion
 IMP biological_process
GO:1903753 negative regulation of p3
8MAPK cascade
 IMP biological_process
GO:2000483 negative regulation of in
terleukin-8 secretion
 IMP biological_process

Diseases

Associated diseases References
Addison's disease PMID: 18710467
Alopecia areata PMID: 16829308
Aplastic anemia PMID: 17034023
Autoimmune diseases PMID: 19265110
Cancer PMID: 19693092
Celiac disease PMID: 16112033
Chronic kidney failure PMID: 19328948
Crohn's disease PMID: 16185327
Diabetes KEGG: H00408, OMIM: 600716
Endometriosis PMID: 26216523
Endometriosis PMID: 17624340
Giant cell arteritis KEGG: H01698
Graves disease PMID: 19438904
Hypoparathyroidism PMID: 16893384
Juvenile arthritis PMID: 15934099
Luteal phase defects (LPD) PMID: 1360455
Meniere disease PMID: 19780033
Multiple sclerosis PMID: 15934099
Myasthenia gravis PMID: 19406179
Myositis PMID: 18821667
Endometriosis INFBASE3781023
Primary biliary cirrhosis PMID: 16671954
Psoriasis PMID: 16507123
Rheumatoid arthritis PMID: 16380915
Sjogren's syndrome PMID: 15933742
Systemic lupus erythematosus PMID: 16052563
Systemic scleroderma PMID: 18576360
Systemic sclerosis PMID: 16464986
Takayasu arteritis PMID: 18375974
Unexplained infertility PMID: 1360455
Uveitis PMID: 19180256
Uveomeningo encephalitic syndrome PMID: 19503742
Vitiligo PMID: 20410501
Wegener granulomatosis PMID: 16320352

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
3781023 Endometrio
sis
46 (6 severe en
dometriosis, 21
with mild endo
metriosis, 19 d
isease-free cyc
ling controls)
Show abstract
20070289 Endometrio
sis
 PTPN22 (C1858T) Brazil
 320 (140 women
with endometrio
sis, 180 health
y fertile women
without a hist
ory of endometr
iosis and/or au
toimmune diseas
es)
 PTPN22
 Show abstract
17931634 Endometrio
sis
 Arg/Arg genotype of p53 codon 72 Caucasi
an popu
lation
of cent
ral Ita
ly
 276 (129 women
with endometrio
sis, 147 contro
ls)
 p53
PTPN22
 Show abstract
17624340 Endometrio
sis
 PTPN22( *)T variant

Female infertility PTPN22
 Show abstract
26216523 Endometrio
sis
380 (130 women
hospitalized fo
r endometriosis
, 250 women wit
hout endometrio
sis)
 ACP1
ADA
PTPN22
 Show abstract
28444099 Endometrio
sis
 PTPN22 (C1858T)
2152 (971 cases
and 1,181 cont
rols)
Show abstract