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
External Ids for PTPN22 Gene
- HGNC: 9652
- Entrez Gene: 26191
- Ensembl: ENSG00000134242
- OMIM: 600716
- UniProtKB: Q9Y2R2
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
-
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).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN22 Gene
Genomics for PTPN22 Gene
Regulatory Elements for PTPN22 Gene
Enhancers for PTPN22 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PTPN22 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PTPN22 gene promoter:
Regulatory Element Products
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:
-
- 1p13.2 by Ensembl
- 1p13.2 by Entrez Gene
- 1p13.2 by HGNC
PTPN22 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PTPN22 Gene
Proteins for PTPN22 Gene
-
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
- 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
Protein Expression for PTPN22 Gene
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
- R&D Systems Antibodies for PTPN22 (Lyp)
- Cell Signaling Technology (CST) Antibodies for PTPN22 (PTPN22)
-
Custom Antibody ServicesOriGene Antibodies for PTPN22
- Novus Biologicals Antibodies for PTPN22
-
Cloud-Clone Corp. Antibodies for PTPN22
- Invitrogen Antibodies for PTPN22
- antibodies-online Antibodies for PTPN22: See all 67
- GeneTex PTPN22 antibody for PTPN22
-
Santa Cruz Biotechnology (SCBT) Antibodies for PTPN22
Protein Products
-
OriGene Purified Proteins for PTPN22
- Search Origene for MassSpec and Protein Over-expression Lysates for PTPN22
- Origene Custom Protein Services for PTPN22
-
Cloud-Clone Corp. Proteins for PTPN22
- antibodies-online Proteins for PTPN22: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for PTPN22
Assay Products
- antibodies-online Kits for PTPN22: See all 1
No data available for DME Specific Peptides for PTPN22 Gene
Domains & Families for PTPN22 Gene
Gene Families for PTPN22 Gene
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
Q9Y2R2UniProtKB/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.
Function for PTPN22 Gene
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
| 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 |
Phenotypes for PTPN22 Gene
- MGI mutant phenotypes for PTPN22:
-
inferred from 4 alleles
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- immune system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for PTPN22:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased transferrin (TF) endocytosis
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased homologous recombination repair frequency
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Apoptosis resistance
Animal Model Products
-
Taconic Biosciences Mouse Models for PTPN22
- Cyagen custom Knockout/knockin (KOKI) mouse models for PTPN22
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PTPN22 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PTPN22 gene
- Search ViGene Biosciences for PTPN22
CRISPR Products
-
OriGene CRISPR knockouts for PTPN22
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTPN22
- GenScript: Design CRISPR guide RNA sequences for PTPN22
miRNA for PTPN22 Gene
- miRTarBase miRNAs that target PTPN22
miRNA Products
- Search ViGene Biosciences for PTPN22
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PTPN22
- Browse OriGene Inhibitory RNA Products For PTPN22
-
ViGene Biosciences ready-to-package AAV shRNAs for PTPN22 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PTPN22
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PTPN22
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PTPN22
-
ViGene Biosciences adenoviral particle packaged cDNA for PTPN22 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PTPN22 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PTPN22 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| cytoskeleton | 1 |
| 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 |
Pathways & Interactions for PTPN22 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Translocation of ZAP-70 to Immunological synapse | ||
| 2 | NF-kappaB Signaling | ||
| 3 | CTLA4 Signaling | ||
| 4 | PAK Pathway | ||
| 5 | Class I MHC mediated antigen processing and presentation | ||
Pathways by source for PTPN22 Gene
1 Cell Signaling Technology pathway for PTPN22 Gene
5 Reactome pathways for PTPN22 Gene
1 GeneGo (Thomson Reuters) pathway for PTPN22 Gene
2 Qiagen pathways for PTPN22 Gene
Interacting Proteins for PTPN22 Gene
Selected Interacting proteins:
ENSP00000352833
Q9Y2R2-PTN22_HUMAN
for PTPN22 Gene via
STRING
MINT
UniProtKB
IID
SIGNOR curated interactions 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 |
Drugs & Compounds for PTPN22 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Phosphate |
|
14265-44-2 |
|
Transcripts for PTPN22 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for PTPN22
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTPN22
- GenScript: Design CRISPR guide RNA sequences for PTPN22
miRNA Products
- Search ViGene Biosciences for PTPN22
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PTPN22
- Browse OriGene Inhibitory RNA Products For PTPN22
-
ViGene Biosciences ready-to-package AAV shRNAs for PTPN22 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PTPN22
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PTPN22
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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: |
Expression for PTPN22 Gene
mRNA differential expression in normal tissues according to GTEx for PTPN22 Gene
This gene is overexpressed in Whole Blood (x13.5).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PTPN22 Gene:
PTPN22SOURCE GeneReport for Unigene cluster for PTPN22 Gene:
Hs.535276mRNA 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
Primer Products
-
OriGene qPCR primer pairs for PTPN22
-
OriGene qPCR primer pairs and template standards for PTPN22
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PTPN22 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PTPN22 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | PTPN22 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ptpn22 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ptpn22 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PTPN22 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PTPN22 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PTPN22 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PTPN22 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ptpn22 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ptpn22 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | T22C1.8 36 |
|
|
|
| ZK616.7 36 |
|
|
|||
| M04G7.2 36 |
|
|
|||
| Y41D4A.5 36 35 |
|
- 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)
Paralogs for PTPN22 Gene
Paralogs for PTPN22 Gene
(67) SIMAP similar genes for PTPN22 Gene using alignment to 7 proteins:
- PTP
- ABI2
- PUS1
- HINFP
- BEAN1
- PFKFB3
- TUBA1C
- NELFA
- TNNT1
- RQCD1
- ARIH1
- ATF1
- EEF1E1
- NLRC5
- NDC80
- EIF3G
- NLN
- PTPN18
- pp12301
- SLC35E3
- IDNK
- PTPN12
- DKFZp781C1038
- COQ5
- SLC16A3
- PTPN2
- ZNF114
- SUV420H1
- EIF3K
- DOCK8
- PTPRR
- ZNF180
- MST132
- CDK10
- PTPRM
- ZNF799
- DKFZp566K0524
- PTPRK
- SH2B3
- PTPN5
- PTPRC
- PTPRA
- MRPL45
- DYNC2LI1
- PTPN20A
- C21orf37
- BPTP-2
- ADCK1
- BPTP-3
- TMX3
- SYNE1
- PTPRD
- PTPN3
- RPS13
- NUP93
- NAE1
- PTPRS
- LSM12
- DKFZp761A0712
- RPGRIP1L
- PTPRB
- IRF2
- PTPN7
- PTPRN
- PTPN4
- PTN2
- DPP9
Variants for PTPN22 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs2476601 | other, Vitiligo (VTLG) [MIM:193200], Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100], Rheumatoid arthritis (RA) [MIM:180300], Systemic lupus erythematosus (SLE) [MIM:152700] | 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN22 Gene
Disorders for PTPN22 Gene
(32) MalaCards diseases for PTPN22 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rheumatoid arthritis |
|
|
| systemic lupus erythematosus |
|
|
| diabetes mellitus, insulin-dependent |
|
|
| vitiligo-associated multiple autoimmune disease susceptibility 1 |
|
|
| vogt-koyanagi-harada disease |
|
|
Search PTPN22 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for PTPN22 Gene
Publications for PTPN22 Gene
- 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
- 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
- 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
- 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
- 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
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- Yeast expression
Sources for PTPN22 Gene
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