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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)

Explore 72 diseases affiliated with
PTPN22 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)¹ ²		Lyp1¹
PTPN8¹ ² ³ ⁵		Lyp2¹
PEP² ³ ⁵		LYP1²
Protein Tyrosine Phosphatase, Non-Receptor Type 8¹ ²		LYP2²
Hematopoietic Cell Protein-Tyrosine Phosphatase 70Z-PEP² ³		Lymphoid-Specific Protein Tyrosine Phosphatase²
Lymphoid Phosphatase² ³		Tyrosine-Protein Phosphatase Non-Receptor Type 22²
PEST-Domain Phosphatase² ³		EC 3.1.3.48³
LYP² ⁵		LyP³
Lyp¹

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:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family kinases¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y2R2

PTPN22 Protein expression data from MOPED and PaxDb: 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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	Browse Sino Biological Recombinant Proteins
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	Uscn 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

PTPN22 Antibody Products:

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Assay Products for PTPN22:

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	Uscn ELISAs and CLIAs for PTPN22

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

PTPN22 for domains About GeneDecksing

4 InterPro domains/families:

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 family: 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

(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 Mar 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): 4 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: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 - Customizable classic, inducible, and humanized mouse model solutions for PTPN22

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PTPN22 Browse MicroRNA Expression Plasmids
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		hsa-miR-16-1*
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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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, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Acyl chain remodelling of PE

Anandamide biosynthesis and metabolism

0.13

Anandamide biosynthesis and metabolism

0.13

Lymphocyte Signaling

Lymphocyte Signaling

1.00

PAK Pathway

Epithelial Adherens Junctions

0.36

CD28 co-stimulation

CTLA4 Signaling

0.15

Pathway sources
See GeneCards unified pathways
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): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006470	protein dephosphorylation	TAS	--
GO:0030217	T cell differentiation	ISS	--
GO:0032817	regulation of natural killer cell proliferation	IDA	--
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	18056643
GO:0035644	phosphoanandamide dephosphorylation	ISS	--

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, 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

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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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 cDNA 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 BM458477 BX099228 AA298761 AW576125 AA748329 NM_015967 AL597518

BC071670 AW504119 AA906845 AW665758 AV705592 CD687350 AI016085 BE241812

BG219901 BG498752 BG198463 NM_012411 BG614041 BG505436 AF001846 BC017785

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

PTPN22 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Definitive Hematopoietic Stem Cells

Blood

Bone

Zeugopod Periosteum

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTPN22

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 eukaryotes.

Orthologs for PTPN22 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	44(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
thale cress (Arabidopsis thaliana)	eudicotyledons	ATPTP1⁶	tyrosine phosphatase 1	23(a)	1 → many	1(27026711-27029092)
rice (Oryza sativa)	Liliopsida	-- --	Protein-tyrosine phosphatase domain containing pro... Protein-tyrosine phosphatase domain containing pro...	24(a) 20(a)	many ↔ many many ↔ many	12(3791109-3796496) 11(4000708-4008336)

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

PTPN7² PTPRH² PTPRO² PTPN11² PTPN6² PTPRJ² PTPRQ² PTPN18²

PTPN12² PTPN5² PTPRB² PTPRR²

18/65 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 ATF1 EEF1E1

EIF3G NDC80 NLN NLRC5 pp12301 PTPN18

PTPN22 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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
				--	--	--		--	--
rs45485394^1,2	F	--	112214202(+)	`CGCGCC/GTGTAG`	3	--	ds500¹		1		NA	120
rs35176624^1,2	C	--	112214282(+)	`CTAGAC/TCCTGA`	3	--	ds500¹		2		NA	122
rs958008^1,2	C,H	--	112214706(+)	`TGTTTC/TTAAAA`	3	--	ut3¹		4		NS EA	418
rs958007^1,2	C,H	--	112214831(+)	`AACTAG/TATTTT`	3	--	ut3¹		5		MN NS EA	602
rs75355751^1,2	C	--	112216742(+)	`TTTTTA/TAGTTA`	3	--	int¹		0	--	--	--	--
rs66518921^1,2	C	--	112217189(+)	`ATTGAA/-AAAAA`	3	--	int¹		1		NA	2
rs79444031^1,2	C	--	112217200(+)	`AAAAAA/CAGCAT`	3	--	int¹		0	--	--	--	--
rs80097650^1,2	C,F	--	112218078(+)	`GGCCAA/TTTCAG`	3	--	int¹		1		WA	118
rs17031885^1,2	C,F	--	112218588(+)	`GACTGT/CTGTTA`	3	--	int¹		4		NA WA	260
rs112447503^1,2	C	--	112219414(+)	`TGTCTG/ATCTGC`	3	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for PTPN22 (114356433 - 114414381 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for PTPN22
3 CNVs: 2322 3306 64644
Human Gene Mutation Database (HGMD): PTPN22

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTPN22

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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PTPN22 for disorders           About GeneDecksing

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

Defects in PTPN22 are a cause of susceptibility to systemic lupus erythematosus (SLE) [MIM:152700]. SLE is a

chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin,

joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the

autoimmune system

20/72 diseases for PTPN22 (see all 72): About MalaCards

systemic lupus erythematosus lupus erythematosus rheumatoid arthritis graves' disease

vogt-koyanagi-harada disease arthritis hypersensitivity reaction type ii disease thrombotic thrombocytopenic purpura

chronic mucocutaneous candidiasis palindromic rheumatism diabetes, type 1 type 1 diabetes mellitus

pemphigus vulgaris anterior uveitis inflammatory bowel disease alopecia areata

wegener's granulomatosis systemic lupus erythematosus, association with primary biliary cirrhosis myasthenia gravis

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

Rheumatoid arthritis Graves' disease Systemic lupus erythematosus Diabetes mellitus

Autoimmune thyroiditis Vitiligo Addison's disease

10/19 Novoseek 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)
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PubMed articles for PTPN22 gene, integrated from 9 sources (see all 379):
(articles sorted by number of sources associating them with PTPN22)

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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)
Identification of substrates of human protein-tyrosine phosphatase PTPN22. (PubMed id 16461343)^{1, 2, 9} Wu J....Clark J.M. (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)
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. (PubMed id 16015369)^{1, 4, 9} Canton I....Kemp E.H. (2005)
Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. (PubMed id 15934099)^{1, 4, 9} Hinks A....Worthington J. (2005)
Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. (PubMed id 15734872)^{1, 4, 9} Zheng W. and She J.X. (2005)
The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. (PubMed id 15674368)^{1, 4, 9} Lee A.T....Gregersen P.K. (2005)

(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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