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
- Tyrosine-Protein Phosphatase Non-Receptor Type 22 3
- Lymphoid-Specific Protein Tyrosine Phosphatase 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 Systemic Lupus Erythematosus and Rheumatoid Arthritis. Among its related pathways are Translocation of ZAP-70 to Immunological synapse and CTLA4 Signaling. Gene Ontology (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).
Additional gene information for PTPN22 Gene
- Monarch Initiative
- Search for PTPN22 at DataMed
- Search for PTPN22 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN22 Gene
Genomics for PTPN22 Gene
GeneHancer (GH) Regulatory Elements for PTPN22 Gene
Promoters and enhancers for PTPN22 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PTPN22 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PTPN22 gene promoter:
-
- PPAR-gamma2
- PPAR-gamma1
- GATA-3
- AML1a
Regulatory Element Products
Genomic Locations for PTPN22 Gene
Genomic Locations for PTPN22 Gene
- chr1:113,813,811-113,871,759
- (GRCh38/hg38)
- Size:
- 57,949 bases
- Orientation:
- Minus strand
- chr1:114,356,433-114,414,381
- (GRCh37/hg19)
- 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 Entrez Gene
- 1p13.2 by HGNC
- 1p13.2 by Ensembl
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 posLast=506506, Lys448, posLast=411411, and Lys315
- Modification sites at PhosphoSitePlus
Other Protein References for PTPN22 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PTPN22 (Lyp)
-
Custom Antibody ServicesOriGene Antibodies for PTPN22
- Novus Biologicals Antibodies for PTPN22
-
Abcam antibodies for PTPN22
- Invitrogen Antibodies for PTPN22 (AFLGC-PTPN22)
- Search GeneTex for Antibodies 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
- antibodies-online: Search results for 6 available PTPN22 Proteins ranked by validation data
- Compare Top PTPN22 Proteins
-
Quality Products:
- Search GeneTex for Proteins for PTPN22
-
Abcam proteins for PTPN22
Assay Products
- antibodies-online: Search results for 1 available PTPN22 Elisa Kits ranked by validation data
- Compare Top PTPN22 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for PTPN22 Gene
Domains & Families for PTPN22 Gene
Gene Families for PTPN22 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
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
- 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 CatalyticActivity:
- Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Down-regulated by phosphorylation.
- UniProtKB/Swiss-Prot Induction:
- By muramyl-dipeptide and lipopolysaccharide.
- GENATLAS Biochemistry:
- Protein tyrosine-phosphatase non receptor type 22,lymphoid-specific,involved in regulation of the function of protooncogene CBL
Enzyme Numbers (IUBMB) for PTPN22 Gene
Phenotypes From GWAS Catalog for PTPN22 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
| GO:0004725 | protein tyrosine phosphatase activity | TAS,IEA | -- |
| GO:0005515 | protein binding | IPI | 10068674 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016791 | phosphatase activity | IEA,IDA | 23991106 |
Phenotypes for PTPN22 Gene
- MGI mutant phenotypes for PTPN22:
-
inferred from 4 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PTPN22:
-
- 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
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Apoptosis resistance
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Models for PTPN22 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for PTPN22
- Cyagen custom Knockout/knockin (KOKI) mouse models for PTPN22
-
CRISPR Products
-
OriGene CRISPR knockouts for PTPN22
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTPN22
- genomics-online: gRNA clones - Search results for 96 available PTPN22 gene related products
- Overview of 96 available PTPN22 gene related products
- Applied Biological Materials CRISPR for PTPN22
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTPN22
- Browse OriGene Inhibitory RNA Products For PTPN22
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN22
- genomics-online: shRNA clones - Search results for 96 available PTPN22 gene related products
- Overview of 96 available PTPN22 gene related products
Clone Products
-
OriGene ORF clones in human for PTPN22
- RC215662
- RC215662L1
- RC215662L2
- RC215662L3
- RC215662L4
- RC218969
- RC218969L1
- RC218969L2
- RC218969L3
- RC218969L4
- RC231413
- RC231413L1
- RC231413L2
- RC231413L3
- RC231413L4
- RG215662
- RG218969
- RG231413
- RC215662L1V
- RC215662L2V
- RC215662L3V
- RC215662L4V
- RC218969L1V
- RC218969L2V
- RC218969L3V
- RC218969L4V
- RC231413L1V
- RC231413L2V
- RC231413L3V
- RC231413L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PTPN22
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTPN22
- Applied Biological Materials Clones for PTPN22
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PTPN22
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 |
- Plasma membrane (2)
- Nucleoplasm (1)
- Vesicles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 10940933 |
| GO:0005737 | cytoplasm | TAS,IEA | 20401454 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0009898 | cytoplasmic side of plasma membrane | IDA,IEA | 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
5 Reactome pathways for PTPN22 Gene
1 GeneGo (Thomson Reuters) pathway for PTPN22 Gene
2 Qiagen pathways for PTPN22 Gene
1 Cell Signaling Technology pathway for PTPN22 Gene
Interacting Proteins for PTPN22 Gene
Selected Interacting proteins:
Q9Y2R2-PTN22_HUMAN
ENSP00000352833
for PTPN22 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PTPN22
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 | IEA,TAS | 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 |
|
Drug Products
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 :
-
- ENST00000460620 1794 bps (uc001edt.4)
- ENST00000359785 3654 bps (uc001eds.4)
- ENST00000528414 3424 bps (uc009wgq.4)
- ENST00000469077 562 bps (uc057joc.1)
- ENST00000532224 2421 bps (uc057jod.1)
Unigene Clusters for PTPN22 Gene
- Protein tyrosine phosphatase, non-receptor type 22 (lymphoid):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PTPN22
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTPN22
- genomics-online: gRNA clones - Search results for 96 available PTPN22 gene related products
- Overview of 96 available PTPN22 gene related products
- Applied Biological Materials CRISPR for PTPN22
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTPN22
- GenScript: Design CRISPR guide RNA sequences for PTPN22
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTPN22
- Browse OriGene Inhibitory RNA Products For PTPN22
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTPN22
- genomics-online: shRNA clones - Search results for 96 available PTPN22 gene related products
- Overview of 96 available PTPN22 gene related products
Clone Products
-
OriGene ORF clones in human for PTPN22
- RC215662
- RC215662L1
- RC215662L2
- RC215662L3
- RC215662L4
- RC218969
- RC218969L1
- RC218969L2
- RC218969L3
- RC218969L4
- RC231413
- RC231413L1
- RC231413L2
- RC231413L3
- RC231413L4
- RG215662
- RG218969
- RG231413
- RC215662L1V
- RC215662L2V
- RC215662L3V
- RC215662L4V
- RC218969L1V
- RC218969L2V
- RC218969L3V
- RC218969L4V
- RC231413L1V
- RC231413L2V
- RC231413L3V
- RC231413L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PTPN22
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTPN22
- Applied Biological Materials Clones for PTPN22
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 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
Regions:
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
- genomics-online: primer clones - Search results for 96 available PTPN22 gene related products
- Overview of 96 available PTPN22 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PTPN22 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PTPN22 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PTPN22 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ptpn22 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ptpn22 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PTPN22 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PTPN22 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PTPN22 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PTPN22 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ptpn22 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ptpn22 34 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | T22C1.8 35 |
|
|
|
| ZK616.7 35 |
|
|
|||
| M04G7.2 35 |
|
|
|||
| Y41D4A.5 34 35 |
|
OneToMany |
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for PTPN22: view image
Paralogs for PTPN22 Gene
Paralogs for PTPN22 Gene
(67) SIMAP similar genes for PTPN22 Gene using alignment to 7 proteins:
- PTN22_HUMAN
- E9PLD8_HUMAN
- E9PM87_HUMAN
- E9PMK2_HUMAN
- E9PMT0_HUMAN
- F5H2S8_HUMAN
- G3K0T4_HUMAN
- 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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs2476601 | risk-factor, Diabetes mellitus, insulin-dependent, susceptibility to, Rheumatoid arthritis, Systemic lupus erythematosus, susceptibility to, Hashimoto thyroiditis, susceptibility to, Addison disease, susceptibility to, 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(-) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs2488457 | risk-factor, Diabetes mellitus, insulin-dependent, susceptibility to | 113,872,746(-) | G/A/C | upstream_transcript_variant | |
| rs56048322 | uncertain-significance, not specified | 113,829,592(-) | C/G | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1000012779 | -- | 113,861,150(-) | T/C | intron_variant | |
| rs1000069243 | -- | 113,865,159(-) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)
Additional Variant Information for PTPN22 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN22 Gene
Disorders for PTPN22 Gene
(32) MalaCards diseases for PTPN22 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| systemic lupus erythematosus |
|
|
| rheumatoid arthritis |
|
|
| diabetes mellitus, insulin-dependent |
|
|
| vitiligo-associated multiple autoimmune disease susceptibility 6 |
|
|
| vogt-koyanagi-harada disease |
|
|
Search PTPN22 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PTN22_HUMAN- 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.
- 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.
- 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.
Additional Disease Information for PTPN22
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Cantón I … Kemp EH (Genes and immunity 2005) 3 4 22 44 58
- A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. (PMID: 15208781) Begovich AB … Gregersen PK (American journal of human genetics 2004) 3 4 22 44 58
- The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. (PMID: 15531553) Velaga MR … Pearce SH (The Journal of clinical endocrinology and metabolism 2004) 3 4 22 44 58
- Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PMID: 10068674) Cohen S … Roifman CM (Blood 1999) 2 3 4 22 58
- Supervised machine learning and logistic regression identifies novel epistatic risk factors with PTPN22 for rheumatoid arthritis. (PMID: 20090771) Briggs FB … Barcellos LF (Genes and immunity 2010) 3 22 44 58
Products for PTPN22 Gene
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Sources for PTPN22 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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- (14) ProtoNet
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- (53) IMGT
- (54) Leiden
- (55) miRBase
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- (66) GenScript
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
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