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PTPN22 Gene(Protein Coding)

Protein Tyrosine Phosphatase, Non-Receptor Type 22

GCID:
GC01M113813
GIFtS:
63
Genes Participants
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Aliases for PTPN22 Gene

Aliases for PTPN22 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 2 3 5
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid) 2 3
  • Hematopoietic Cell Protein-Tyrosine Phosphatase 70Z-PEP 3 4
  • Protein Tyrosine Phosphatase, Non-Receptor Type 8 2 3
  • PEST-Domain Phosphatase 3 4
  • PTPN8 3 4
  • PEP 3 4
  • LYP 3 4
  • Tyrosine-Protein Phosphatase Non-Receptor Type 22 3
  • Lymphoid-Specific Protein Tyrosine Phosphatase 3
  • Lymphoid Phosphatase 4
  • EC 3.1.3.48 4
  • PTPN22.5 3
  • PTPN22.6 3
  • LYP1 3
  • LYP2 3

External Ids for PTPN22 Gene

Previous HGNC Symbols for PTPN22 Gene

  • PTPN8

Previous GeneCards Identifiers for PTPN22 Gene

  • GC01M114770
  • GC01M113238
  • GC01M113456
  • GC01M113655
  • GC01M114003
  • GC01M114157
  • GC01M114356
  • GC01M112214

Summaries for PTPN22 Gene

Entrez Gene Summary for PTPN22 Gene

  • 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]

GeneCards Summary for PTPN22 Gene

PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22) is a Protein Coding gene. Diseases associated with PTPN22 include Rheumatoid Arthritis and Systemic Lupus Erythematosus. Among its related pathways are CTLA4 Signaling and TCR signaling (REACTOME). GO annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPN12.

UniProtKB/Swiss-Prot for PTPN22 Gene

  • Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating Tyr-394 residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating Tyr-493 residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106).

Gene Wiki entry for PTPN22 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN22 Gene

Genomics for PTPN22 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PTPN22 Gene

Enhancers for PTPN22 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G113869 1.3 Ensembl ENCODE 10.5 -1.4 -1420 7.6 HDGF PKNOX1 ATF1 YBX1 YY1 ZNF121 ZNF766 GATA2 CBX5 ZNF143 AP4B1 PHTF1 RSBN1 DCLRE1B ENSG00000231128 HIPK1-AS1 HIPK1 PTPN22 OLFML3 AP4B1-AS1
GH01G113809 1.4 ENCODE dbSUPER 9.3 +60.2 60208 4.7 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 PHTF1 AP4B1 PTPN22 MAGI3 ENSG00000231128 PIR59903
GH01G113903 1.2 ENCODE 9.7 -33.0 -32976 2.8 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF610 LOC100421402 PTPN22 AP4B1-AS1 AP4B1 DCLRE1B BCL2L15
GH01G113857 1.1 Ensembl ENCODE 9.7 +11.9 11905 4.7 HDAC1 TBL1XR1 NFRKB CHAMP1 GATA2 ZNF207 RCOR1 FOS RELB IKZF2 HIPK1 AP4B1 DCLRE1B BCL2L15 HIPK1-AS1 PTPN22 OLFML3 PHTF1 GC01M113841
GH01G113900 0.5 ENCODE 21.2 -30.0 -30041 2.5 ZNF133 ZNF26 MLLT1 ZNF24 PTPN22 LRIG2 AP4B1 SIKE1 HIPK1-AS1 HIPK1 TRIM33 LOC100421402 DCLRE1B BCL2L15
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTPN22 on UCSC Golden Path with GeneCards custom track

Promoters for PTPN22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000011626 359 401 TBP ATF1 NFRKB YY1 ZNF207 ETV6 SMAD5 ZBTB11 TBX21 ZNF592

Transcription factor binding sites by QIAGEN in the PTPN22 gene promoter:

Genomic Location for PTPN22 Gene

Chromosome:
1
Start:
113,813,811 bp from pter
End:
113,871,759 bp from pter
Size:
57,949 bases
Orientation:
Minus strand

Genomic View for PTPN22 Gene

Genes around PTPN22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPN22 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PTPN22 Gene

Proteins for PTPN22 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PTPN22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2R2-PTN22_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 22
    Protein Accession:
    Q9Y2R2
    Secondary Accessions:
    • A0N0K6
    • B1ALC8
    • D4NZ71
    • E9PLD8
    • E9PPI1
    • O95063
    • O95064
    • Q6IPX8
    • Q8WVM1

    Protein attributes for PTPN22 Gene

    Size:
    807 amino acids
    Molecular mass:
    91705 Da
    Quaternary structure:
    • Interacts with CSK (PubMed:15208781). Interacts with LPXN (By similarity). Interacts with CBL (PubMed:10068674). Interacts with TRAF3 (via MATH domain); the interaction promotes TRAF3 polyubiquitination (PubMed:23871208).

    Three dimensional structures from OCA and Proteopedia for PTPN22 Gene

    Alternative splice isoforms for PTPN22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPN22 Gene

Protein Expression for PTPN22 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PTPN22 Gene

  • Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family kinases.
  • Ubiquitination at isoforms=2, 3, 4, 6315, Lys411, isoforms=2, 3, 4, 6448, and Lys506
  • Modification sites at PhosphoSitePlus

Other Protein References for PTPN22 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PTPN22 (PTPN22)
  • Cloud-Clone Corp. Antibodies for PTPN22
  • Santa Cruz Biotechnology (SCBT) Antibodies for PTPN22

No data available for DME Specific Peptides for PTPN22 Gene

Domains & Families for PTPN22 Gene

Gene Families for PTPN22 Gene

HGNC:

Protein Domains for PTPN22 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PTPN22 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2R2

UniProtKB/Swiss-Prot:

PTN22_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.
genes like me logo Genes that share domains with PTPN22: view

Function for PTPN22 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PTPN22 Gene

GENATLAS Biochemistry:
Protein tyrosine-phosphatase non receptor type 22,lymphoid-specific,involved in regulation of the function of protooncogene CBL
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Down-regulated by phosphorylation.
UniProtKB/Swiss-Prot Function:
Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating Tyr-394 residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating Tyr-493 residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106).
UniProtKB/Swiss-Prot Induction:
By muramyl-dipeptide and lipopolysaccharide.

Enzyme Numbers (IUBMB) for PTPN22 Gene

Gene Ontology (GO) - Molecular Function for PTPN22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,TAS --
GO:0005515 protein binding IPI 10068674
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IDA,IEA 23991106
genes like me logo Genes that share ontologies with PTPN22: view
genes like me logo Genes that share phenotypes with PTPN22: view

Human Phenotype Ontology for PTPN22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPN22 Gene

MGI Knock Outs for PTPN22:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPN22

CRISPR Products

miRNA for PTPN22 Gene

miRTarBase miRNAs that target PTPN22

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PTPN22 Gene

Localization for PTPN22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN22 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTPN22 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PTPN22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10940933
GO:0005737 cytoplasm IEA,TAS 20401454
GO:0005829 cytosol TAS --
GO:0009898 cytoplasmic side of plasma membrane IEA,IDA 10940933
GO:0048471 perinuclear region of cytoplasm IDA 10068674
genes like me logo Genes that share ontologies with PTPN22: view

Pathways & Interactions for PTPN22 Gene

genes like me logo Genes that share pathways with PTPN22: view

Pathways by source for PTPN22 Gene

1 Cell Signaling Technology pathway for PTPN22 Gene
1 GeneGo (Thomson Reuters) pathway for PTPN22 Gene
2 Qiagen pathways for PTPN22 Gene

SIGNOR curated interactions for PTPN22 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PTPN22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002685 regulation of leukocyte migration IEA --
GO:0006470 protein dephosphorylation TAS,IEA 21044313
GO:0006914 autophagy IEA --
GO:0010507 negative regulation of autophagy IMP 23991106
genes like me logo Genes that share ontologies with PTPN22: view

Drugs & Compounds for PTPN22 Gene

Products:

  1. Drug

(4) Drugs for PTPN22 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(2) Additional Compounds for PTPN22 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
 14265-44-2
genes like me logo Genes that share compounds with PTPN22: view

Transcripts for PTPN22 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PTPN22 Gene

(11) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(50) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTPN22 Gene

Protein tyrosine phosphatase, non-receptor type 22 (lymphoid):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN22 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - - -
SP2: - -
SP3: -
SP4: - - - - - - - - - - - - - - -
SP5:

Relevant External Links for PTPN22 Gene

GeneLoc Exon Structure for
PTPN22
ECgene alternative splicing isoforms for
PTPN22

Expression for PTPN22 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPN22 Gene

mRNA expression in normal human tissues for PTPN22 Gene
mRNA expression by BioGPS for PTPN22 GenemRNA expression by GTEx for PTPN22 Gene

mRNA differential expression in normal tissues according to GTEx for PTPN22 Gene

This gene is overexpressed in Whole Blood (x13.5).

Protein differential expression in normal tissues from HIPED for PTPN22 Gene

This gene is overexpressed in CD8 Tcells (48.3) and Spleen (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PTPN22 Gene



Protein tissue co-expression partners for PTPN22 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTPN22 Gene:

PTPN22

SOURCE GeneReport for Unigene cluster for PTPN22 Gene:

Hs.535276

mRNA Expression by UniProt/SwissProt for PTPN22 Gene:

Q9Y2R2-PTN22_HUMAN
Tissue specificity: Expressed in bone marrow, B and T-cells, PBMCs, natural killer cells, monocytes, dendritic cells and neutrophils (PubMed:15208781). Both isoform 1 and 4 are predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed in thymocytes and both mature B and T-cells.

Evidence on tissue expression from TISSUES for PTPN22 Gene

  • Thyroid gland(2.8)
  • Blood(2.5)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPN22 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • sinus
  • skull
  • tooth
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PTPN22: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PTPN22 Gene

Orthologs for PTPN22 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPN22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PTPN22 34 35
  • 99.79 (n)
dog
(Canis familiaris)
 Mammalia PTPN22 34 35
  • 86.8 (n)
cow
(Bos Taurus)
 Mammalia PTPN22 34 35
  • 86.65 (n)
mouse
(Mus musculus)
 Mammalia Ptpn22 34 16 35
  • 79.95 (n)
rat
(Rattus norvegicus)
 Mammalia Ptpn22 34
  • 78.65 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia PTPN22 35
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia PTPN22 35
  • 63 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PTPN22 34 35
  • 59.5 (n)
lizard
(Anolis carolinensis)
 Reptilia PTPN22 35
  • 42 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ptpn22 34
  • 54.03 (n)
zebrafish
(Danio rerio)
 Actinopterygii ptpn22 35
  • 30 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea T22C1.8 36
  • 34 (a)
ZK616.7 36
  • 33 (a)
M04G7.2 36
  • 31 (a)
Y41D4A.5 36 35
  • 31 (a)
Species where no ortholog for PTPN22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTPN22 Gene

ENSEMBL:
Gene Tree for PTPN22 (if available)
TreeFam:
Gene Tree for PTPN22 (if available)

Paralogs for PTPN22 Gene

Variants for PTPN22 Gene

Sequence variations from dbSNP and Humsavar for PTPN22 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2476601 other, Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100], Rheumatoid arthritis (RA) [MIM:180300], Systemic lupus erythematosus (SLE) [MIM:152700], Vitiligo (VTLG) [MIM:193200] 113,834,946(+) TGTCC(A/G)TACAG intron-variant, reference, missense
rs56048322 Uncertain significance 113,829,592(-) AGTAA(C/G)GTAAA intron-variant, downstream-variant-500B, reference, missense
rs1000012779 -- 113,861,150(+) ATGTA(C/T)GAAAG intron-variant
rs1000069243 -- 113,865,159(+) GAACA(C/T)AGTTC intron-variant, upstream-variant-2KB
rs1000070216 -- 113,859,587(+) TTCTG(A/T)CTCCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTPN22 Gene

Variant ID Type Subtype PubMed ID
esv23869 CNV loss 19812545
esv3587239 CNV loss 21293372
esv3587240 CNV loss 21293372
esv3587250 CNV loss 21293372
esv3587251 CNV loss 21293372
nsv473902 CNV novel sequence insertion 20440878
nsv831093 CNV loss 17160897
nsv951398 CNV duplication 24416366

Variation tolerance for PTPN22 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPN22 Gene

Human Gene Mutation Database (HGMD)
PTPN22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPN22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN22 Gene

Disorders for PTPN22 Gene

MalaCards: The human disease database

(32) MalaCards diseases for PTPN22 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PTN22_HUMAN
  • Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:15004560}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269 PubMed:15208781}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:15273934}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Vitiligo (VTLG) [MIM:193200]: A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases. {ECO:0000269 PubMed:16015369}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PTPN22

Genetic Association Database (GAD)
PTPN22
Human Genome Epidemiology (HuGE) Navigator
PTPN22
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPN22
genes like me logo Genes that share disorders with PTPN22: view

No data available for Genatlas for PTPN22 Gene

Publications for PTPN22 Gene

  1. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. (PMID: 16015369) CantA^n I. … Kemp E.H. (Genes Immun. 2005) 3 4 22 46 64
  2. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. (PMID: 15208781) Begovich A.B. … Gregersen P.K. (Am. J. Hum. Genet. 2004) 3 4 22 46 64
  3. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. (PMID: 15531553) Velaga M.R. … Pearce S.H. (J. Clin. Endocrinol. Metab. 2004) 3 4 22 46 64
  4. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PMID: 10068674) Cohen S. … Roifman C.M. (Blood 1999) 2 3 4 22 64
  5. Human leukocyte antigen (DR1)-DQB1*0501 and (DR15)-DQB1*0602 haplotypes are associated with humoral responses to early food allergens in children. (PMID: 20016199) Savilahti E.M. … Savilahti E. (Int. Arch. Allergy Immunol. 2010) 3 22 46 64

Products for PTPN22 Gene

Sources for PTPN22 Gene

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