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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PTPN22 Gene

protein-coding GIFtS: 64
GCID: GC01M114356

Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)

(Previous names: protein tyrosine phosphatase, non-receptor type 8)
(Previous symbol: PTPN8)

80 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)¹ ²		LYP² ⁵
PTPN8¹ ² ³ ⁵		LYP1²
PEP² ³ ⁵		LYP2²
Protein Tyrosine Phosphatase, Non-Receptor Type 8¹ ²		Lymphoid-Specific Protein Tyrosine Phosphatase²
Hematopoietic Cell Protein-Tyrosine Phosphatase 70Z-PEP² ³		Tyrosine-Protein Phosphatase Non-Receptor Type 22²
Lymphoid Phosphatase² ³		EC 3.1.3.48³
PEST-Domain Phosphatase² ³		LyP³

External Ids:	HGNC: 9652¹	Entrez Gene: 26191²	Ensembl: ENSG00000134242⁷	OMIM: 600716⁵	UniProtKB: Q9Y2R2³

Export aliases for PTPN22 gene to outside databases

Previous GC identifers: GC01M114770 GC01M113238 GC01M113456 GC01M113655 GC01M114003 GC01M114157 GC01M112214

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (lymphoid)) is a protein-coding gene. Diseases associated with PTPN22 include type 1 diabetes, and systemic lupus erythematosus, and among its related super-pathways are PAK Pathway and D-myo-inositol-5-phosphate metabolism. GO annotations related to this gene include kinase binding and SH3 domain binding. An important paralog of this gene is PTPN1.

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2

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.

Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue.

Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator SKAP2

Gene Wiki entry for PTPN22 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_032977.9 NC_018912.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PTPN22 gene promoter:
PPAR-gamma1 AML1a GATA-3 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PTPN22 promoter sequence

Search SABiosciences Chromatin IP Primers for PTPN22

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPN22

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.2 Ensembl cytogenetic band: 1p13.2 HGNC cytogenetic band: 1p13.2

PTPN22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN22 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M114356: view genomic region (about GC identifiers)

Start:	114,356,433 bp from pter	End:	114,414,381 bp from pter
Size:	57,949 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2 (See protein sequence)

Recommended Name: Tyrosine-protein phosphatase non-receptor type 22

Size: 807 amino acids; 91705 Da

Subunit: Interacts with CSK. Interacts with LPXN (By similarity). Interacts with CBL

Subcellular location: Cytoplasm (By similarity)

6/7 PDB 3D structures from and Proteopedia for PTPN22 (see all 7):

2P6X (3D)

2QCJ (3D)

2QCT (3D)

3BRH (3D)

3H2X (3D)

3OLR (3D)

Secondary accessions: A0N0K6 B1ALC8 D4NZ71 E9PPI1 O95063 O95064 Q6IPX8 Q8WVM1

Alternative splicing: 6 isoforms: Q9Y2R2-1 Q9Y2R2-2 Q9Y2R2-3 Q9Y2R2-4 Q9Y2R2-5 Q9Y2R2-6 (Lacks most of the phosphatase domain and functions as a dominant negative isoform of the full length PTPN22)

Explore the universe of human proteins at neXtProt for PTPN22: NX_Q9Y2R2

Explore proteomics data for PTPN22 at MOPED

Post-translational modifications:

UniProtKB: Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family kinases

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9Y2R2

PTPN22 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001180360.1 NP_036543.4 NP_057051.3

ENSEMBL proteins:

ENSP00000433141 ENSP00000352833 ENSP00000435176 ENSP00000431249 ENSP00000388229

ENSP00000432674 ENSP00000434932 ENSP00000439372

Human Recombinant Protein Products for PTPN22:

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	Novus Biologicals PTPN22 Proteins Novus Biologicals PTPN22 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for PTPN22

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10940933
GO:0005737	cytoplasm	TAS	--
GO:0009898	internal side of plasma membrane	IDA	10940933
GO:0048471	perinuclear region of cytoplasm	IDA	10068674

PTPN22 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

PTPN: Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor

4 InterPro protein domains:

IPR016276 Non-rcpt_Tyr_Pase_8/22

IPR016130 Tyr_Pase_AS

IPR000242 Tyr_Pase_rcpt/non-rcpt

IPR000387 Tyr/Dual-sp_Pase

Graphical View of Domain Structure for InterPro Entry Q9Y2R2

ProtoNet protein and cluster: Q9Y2R2

1 Blocks protein domain: IPB000242 Protein tyrosine phosphatase signature

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2

Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily

Similarity: Contains 1 tyrosine-protein phosphatase domain

PTPN22 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PTN22_HUMAN, Q9Y2R2

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.

Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue.

Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator SKAP2

Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

Enzyme regulation: Down-regulated by phosphorylation

Genatlas biochemistry entry for PTPN22:

Protein tyrosine-phosphatase non receptor type 22,lymphoid-specific,involved in regulation of the function of

protooncogene CBL

Enzyme Number (IUBMB): EC 3.1.3.48¹

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004725	protein tyrosine phosphatase activity	IDA	10068674
GO:0005515	protein binding	IPI	10068674
GO:0016791	phosphatase activity	--	--
GO:0017124	SH3 domain binding	ISS	--
GO:0019900	kinase binding	ISS	--

PTPN22 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for PTPN22:

Decreased focal adhesion (FA)

Increased apoptosis

Upregulation of Wnt/beta-caten

9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ptpn22):

cellular	growth/size	hematopoietic system	homeostasis/metabolism	immune system
liver/biliary system	mortality/aging	renal/urinary system	respiratory system

PTPN22 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for PTPN22: Ptpn22^tm1Achn Ptpn22^tm2Achn

inGenious Targeting Laboratory - Custom generated mouse model solutions for PTPN22

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PTPN22

miRNA Products:
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		hsa-miR-16-1*
		SwitchGear 3'UTR luciferase reporter plasmid: PTPN22 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN22

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for PTPN22 About

See pathways by source

SuperPath

Contained pathways About

PAK Pathway

Epithelial Adherens Junctions

0.36

Anandamide biosynthesis and metabolism

Anandamide biosynthesis and metabolism

0.34

CD28 co-stimulation

CTLA4 Signaling

0.31

Lymphocyte Signaling

Lymphocyte Signaling

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for PTPN22

Anandamide biosynthesis and metabolism

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PTPN22

	CTLA4 Signaling
	Epithelial Adherens Junctions

1 Cell Signaling Technology (CST) Pathway for PTPN22

Lymphocyte Signaling

1 GeneGo (Thomson Reuters) Pathway for PTPN22

Anandamide biosynthesis and metabolism

PTPN22 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PTPN22

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/22 Interacting proteins for PTPN22 (Q9Y2R2^{1, 2, 3} ENSP00000352833⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CD247	P20963¹^,³, ENSP00000354782⁴	EBI-1211241,EBI-1165705 I2D: score=3 STRING: ENSP00000354782
LCK	P06239¹^,³, ENSP00000337825⁴	EBI-1211241,EBI-1348 I2D: score=3 STRING: ENSP00000337825
ZAP70	P43403¹^,³, ENSP00000264972⁴	EBI-1211241,EBI-1211276 I2D: score=3 STRING: ENSP00000264972
CBL	P22681²^,³, ENSP00000264033⁴	MINT-8215437 MINT-8215446 I2D: score=1 STRING: ENSP00000264033
GRB2	P62993²^,³, ENSP00000339007⁴	MINT-7033943 MINT-7033873 I2D: score=4 STRING: ENSP00000339007

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006470	protein dephosphorylation	TAS	--
GO:0016311	dephosphorylation	--	--
GO:0030217	T cell differentiation	ISS	--
GO:0032817	regulation of natural killer cell proliferation	IDA	--
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	10068674

PTPN22 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PTPN22 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PTPN22 (PTN22)

2 HMDB Compounds for PTPN22 About this table

Compound	Synonyms	CAS #	PubMed Ids
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 Novoseek inferred chemical compound relationships for PTPN22 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	77.5	152	10068674 (2), 16461343 (2), 15531553 (2), 16015369 (2) (see all 86)
arginine	0	2	15531553 (1), 16279843 (1)
glutamate	0	2	19290936 (1)

Search CenterWatch for drugs/clinical trials and news about PTPN22 / PTN22

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PTPN22 gene (3 alternative transcripts):

NM_001193431.1 NM_012411.4 NM_015967.5

Unigene Cluster for PTPN22:

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

Hs.535276 [show with all ESTs]

Unigene Representative Sequence: NM_015967

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000460620 ENST00000359785(uc001eds.3 uc021orx.1 uc009wgq.3 uc021ory.1 uc010owo.2 uc001edt.3)

ENST00000528414 ENST00000469077 ENST00000532224 ENST00000420377(uc009wgr.2 uc009wgs.2)

ENST00000525799 ENST00000484147(uc001edu.2) ENST00000534519 ENST00000529045

ENST00000538253

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		hsa-miR-16-1*
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Additional mRNA sequence:

AF001846.1 AF077031.1 AK303124.1 AK310570.1 AK310698.1 BC017785.1 BC071670.1 GU479452.1

JN084012.1 U69700.1

8 DOTS entries:

DT.206623 DT.99981204 DT.207269 DT.91759255 DT.95365499 DT.86858234 DT.100747078 DT.99940287

24/50 AceView cDNA sequences (see all 50):

BX482744 AW504119 AA298761 BM458477 NM_015967 AA906845 BC071670 AA748329

BX099228 AW576125 AL597518 BG198463 BG614041 AI016085 BG541535 BG536550

NM_012411 AA721264 CD687350 BG219901 BE241812 AF077031 AV705592 BU198510

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for PTPN22 About this scheme

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:

ECgene alternative splicing isoforms for PTPN22

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PTPN22 expression in normal human tissues (normalized intensities) PTPN22 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

PTPN22 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/33 selected tissues (see all 33) fully expand


Reproductive System (Reproductive System) fully expand to see all 7 entries
vagina ; squamous epithelial cells

Skin (Integumentary System) fully expand to see all 5 entries
skin ; keratinocytes

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Blood (Cardiovascular System) fully expand to see all 4 entries
lung ; macrophages
cd8+ t cell

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

See PTPN22 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PTPN22

SOURCE GeneReport for Unigene cluster: Hs.535276

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2

Tissue specificity: Predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed in thymocytes and

both mature B and T-cells

SABiosciences Expression via Pathway-Focused PCR Array including PTPN22:

Protein Phosphatases in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN22

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PTPN22 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ptpn22^{1 , 5}	protein tyrosine phosphatase, non-receptor type 22 more^{1, 5}	79.87(n)¹ 71.8(a)¹		3 (45.52 cM)⁵ 19260¹ NM_008979.1¹ NP_033005.1¹ 103859795⁵
chicken (Gallus gallus)	Aves	PTPN22¹	protein tyrosine phosphatase, non-receptor type 22 more	59.19(n) 53.59(a)		772032 XM_001235233.2 XP_001235234.1
lizard (Anolis carolinensis)	Reptilia	PTPN22⁶	Uncharacterized protein	41(a)	1 ↔ 1	4(139233222-139278542)
zebrafish (Danio rerio)	Actinopterygii	ptpn22¹	protein tyrosine phosphatase, non-receptor type 22	56.25(n) 50.57(a)		565606 NM_001099420.1 NP_001092890.1
fruit fly (Drosophila melanogaster)	Insecta	PTP-ER⁶ CG42327⁶	--	8(a) 6(a)	possible ortholog 1 ↔ many	2R(17506889-17511947) 3R(7481875-7499697)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PTPN22 gene

PTPN1² PTPRH² PTPRO² PTPN11² PTPN9² PTPN6² PTPRQ² PTPRJ²

PTPN18² PTPN12² PTPN2² PTPRB²

18/68 SIMAP similar genes for PTPN22 using alignment to 7 protein entries: PTN22_HUMAN (see all proteins) (see all similar genes):

PTP ABI2 BEAN1 HINFP PUS1 PFKFB3

NELFA TUBA1C ARIH1 RQCD1 TNNT1 ATF1

EEF1E1 EIF3G NDC80 NLN NLRC5 PTPN18

PTPN22 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2476601^1,2,4	C,F,H	other¹	114446512(+)	`TGTCCG/ATACAG`	6	/R /W	mis¹ ese³		26		NS EA NA WA CSA EU	8180
rs71578792^1,2	C	--	112228925(+)	`GCAGA-/TTTTTT`	3	--	int¹		2		NA CSA	4
rs71578795^1,2	C,F	--	112244051(+)	`CAAAA-/TG/ TGTGTGTGTGT`	6	--	int¹ cds¹		2		NA CSA	4
rs34578333^1,2	C	--	112248019(+)	`TTTTT-/TGATGA`	3	--	int¹		2		NA CSA	4
rs5777168^1,2	C	--	112248994(+)	`ttttt-/Tttgga`	3	--	int¹ trp³		2		NA CSA	4
rs113029410^1,2	C	--	112250352(+)	`TTATT-/TATTTAT`	3	--	int¹		1		CSA	2
rs199711488^1,2		--	112250353(+)	`ATTTA-/TTTTAT`	3	--	int¹		0	--	--	--	--
rs66847326^1,2	C	--	112264670(+)	`TATATT/ATATAT`	3	--	int¹		1		NA	2
rs369280519^1,2	C	--	112264670(+)	`tatat-/A/A T/ATAtattt`	6	--	int¹ cds¹		1		NA	2
rs35402689^1,2	C	--	112266163(+)	`TGGGT-/AAAAAT`	3	--	int¹		2		NA CSA	4

HapMap Linkage Disequilibrium report for PTPN22 (114356433 - 114414381 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for PTPN22: About this table

Variant ID	Type	Subtype	PubMed ID
esv23869	CNV	Loss	19812545
nsv831093	CNV	Loss	17160897

Human Gene Mutation Database (HGMD): PTPN22

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PTPN22 for disorders           About GeneDecksing

OMIM gene information: 600716
OMIM disorders: 222100  180300  152700
UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2

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. Note=Disease susceptibility is

associated with variations affecting the gene represented in this entry

20/80 diseases for PTPN22 (see all 80): About MalaCards

type 1 diabetes systemic lupus erythematosus palindromic rheumatism graves' disease

rheumatoid arthritis, association with diabetes, type 2 rheumatoid arthritis lupus erythematosus

lymphopenia autoimmune thyroiditis chronic mucocutaneous candidiasis vitiligo

thrombotic thrombocytopenic purpura addison's disease achalasia arthritis

takayasu's arteritis brucellosis multifocal motor neuropathy anterior uveitis

7 diseases from the University of Copenhagen DISEASES database for PTPN22:

Rheumatoid arthritis Hypersensitivity reaction type II disease Connective tissue disease Hyperthyroidism

Diabetes mellitus Thyroiditis Addison's disease

10/19 Novoseek inferred disease relationships for PTPN22 gene (see all 19) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
autoimmune diseases	82.8	88	18056643 (3), 16731003 (2), 16690758 (2), 20166877 (2) (see all 57)
autoimmune thyroid disease	81.6	7	19343596 (1), 19090780 (1), 18687223 (1), 16052563 (1)
autoimmunity	79.4	39	17237219 (2), 18981062 (2), 19210888 (2), 16731003 (1) (see all 27)
hashimotos thyroiditis	76.3	2	15719322 (1), 16320352 (1)
addisons disease	75.9	11	18710467 (2), 16273109 (1), 18301444 (1), 19209622 (1) (see all 5)
graves disease	75.2	13	15531553 (2), 18578611 (2), 17729039 (1), 17608818 (1) (see all 7)
rheumatoid arthritis	68.9	51	18466483 (3), 18466461 (2), 15641066 (2), 17661906 (2) (see all 32)
lupus erythematosus systemic	62.5	20	18981062 (2), 15641066 (2), 17729039 (1), 17868256 (1) (see all 12)
vitiligo	61.9	16	18426414 (2), 16015369 (2), 17729039 (1), 19209622 (1) (see all 6)
genetic susceptibility	56.3	8	18301444 (2), 19503742 (1), 19343596 (1), 16164701 (1) (see all 6)

Genetic Association Database (GAD): PTPN22
Human Genome Epidemiology (HuGE) Navigator: PTPN22 (268 documents)

Export disorders for PTPN22 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PTPN22 gene, integrated from 9 sources (see all 402):
(articles sorted by number of sources associating them with PTPN22)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PubMed id 10068674)^{1, 2, 3, 9} Cohen S.... Roifman C.M. (1999)
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. (PubMed id 15273934)^{1, 2, 4} Kyogoku C.... Behrens T.W. (2004)
Structure, inhibitor, and regulatory mechanism of Lyp, a lymphoid- specific tyrosine phosphatase implicated in autoimmune diseases. (PubMed id 18056643)^{1, 2, 9} Yu X....Zhang Z.Y. (2007)
The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. (PubMed id 16052172)^{1, 4, 9} Reddy M.V....Alarcon-Riquelme M.E. (2005)
Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves' disease in a Japanese population. (PubMed id 18578611)^{1, 4, 9} Ichimura M....Hiromatsu Y. (2008)
Identification of substrates of human protein-tyrosine phosphatase PTPN22. (PubMed id 16461343)^{1, 2, 9} Wu J....Clark J.M. (2006)
Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. (PubMed id 16690758)^{1, 4, 9} Ikari K....Kamatani N. (2006)
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. (PubMed id 16175503)^{1, 4, 9} Carlton V.E....Begovich A.B. (2005)
[Association of polymorphism of proteintyrosine phosphatase nonreceptor-22 gene with AITD.] (PubMed id 18687223)^{1, 4, 9} Yu Z.Y....Dong B.N. (2008)
Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. (PubMed id 16470599)^{1, 4, 9} Kawasaki E....Eguchi K. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26191	HGNC: 9652	AceView: PTPN22	Ensembl:ENSG00000134242	euGenes: HUgn26191
ECgene: PTPN22	H-InvDB: PTPN22

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PTPN22	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PTPN22 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PTPN22 gene:
Search GeneIP for patents involving PTPN22

GeneCards and IP:
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PTPN22 Gene

Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)

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PTPN22 Gene

Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)

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