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PTPN22 Gene

protein-coding GIFtS: 60

GC01M112214

protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
(Previous names: protein tyrosine phosphatase, non-receptor type 8 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PTPN8)

		Products

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

Aliases & Descriptions
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)¹ ²		Lyp2¹
PTPN8² ³ ⁵		PEST-domain phosphatase²
protein tyrosine phosphatase, non-receptor type 8¹ ²		OTTHUMP00000013721²
Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP² ³		LYP1²
Lymphoid phosphatase² ³		LYP2²
LYP² ⁵		tyrosine-protein phosphatase non-receptor type 22²
PEP² ⁵		lymphoid-specific protein tyrosine phosphatase²
Lyp¹		EC 3.1.3.48³
Lyp1¹		LyP³

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

Export aliases for PTPN22 gene to outside databases

Previous GC identifers: GC01M114770 GC01M113238 GC01M113456 GC01M113655 GC01M114003 GC01M114157 GC01M114356

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2

Function: Seems to act on Cbl. May play a role in regulating the function of Cbl and its associated protein kinases.

Acts as negative regulator of T cell receptor (TCR) signaling. Dephosphorylates and inactivates the SRC family kinases

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PTPN22 gene promoter:
         NF-kappaB1   PPAR-gamma2   PPAR-gamma1   RSRFC4   NF-kappaB   MEF-2A   NF-AT4   NF-AT3   NF-AT2   NF-AT1
         Other transcription factors

Search SABiosciences Chromatin IP Primers for PTPN22

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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 gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M112214: view genomic region (about GC identifiers)

Start:	112,214,556 bp from pter
End:	112,272,493 bp from pter
Size:	57,938 bases
Orientation:	minus strand

1 alternative location:

Chr1- 114,356,433-114,414,381

RefSeq DNA sequence:

NC_000001.10 NT_032977.9

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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

Subcellular location: Cytoplasm (By similarity)

PDB structures from and Proteopedia :

2P6X (3D)

2QCJ (3D)

2QCT (3D)

3BRH (3D)

3H2X (3D)

Secondary accessions: A0N0K6 B1ALC8 D4NZ71 O95063 O95064 Q6IPX8 Q8WVM1

Alternative splicing: 5 isoforms: Q9Y2R2-1 Q9Y2R2-2 Q9Y2R2-3 Q9Y2R2-4 Q9Y2R2-5

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 phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001180360.1 NP_036543.4 NP_057051.3

ENSEMBL proteins:

ENSP00000352833 ENSP00000388229 ENSP00000346621

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: PTPN22
	GenScript Custom Purified and Recombinant Proteins Services for PTPN22
	Novus Biologicals Proteins for PTPN22
	Novus Biologicals Lysates for PTPN22
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

About this table

PTPN22 for ontologies About GeneDecksing

Antibodies for PTPN22:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PTPN22
	R&D Systems Antibodies for PTPN22 (Lyp)
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for PTPN22
	Novus Biologicals Antibodies for PTPN22
	Browse antibodies at Epitomics

Assays for PTPN22:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PTPN22
	Browse Enzo Life Sciences for kits & assays
	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 Dual-sp/Tyr_phosphatase

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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2

Function: Seems to act on Cbl. May play a role in regulating the function of Cbl and its associated protein kinases.

Acts as negative regulator of T cell receptor (TCR) signaling. Dephosphorylates and inactivates the SRC family kinases

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

Enzyme regulation: Down-regulated by phosphorylation

Enzyme Number (IUBMB): EC 3.1.3.48

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PTPN22 Sigma-Aldrich shRNA Panels and shRNA for PTPN22
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PTPN22 OriGene shRNA RFP (see all 2): PTPN22 OriGene basic RS shRNA (see all 2): PTPN22 OriGene siRNA (see all 2): PTPN22
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PTPN22

miRNA:		Sigma-Aldrich microRNA Mimics for PTPN22 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PTPN22
		Search SABiosciences for Assays for microRNAs that regulate PTPN22

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PTPN22 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PTPN22 OriGene untagged cDNA clones in CMV expression vector (see all 3): PTPN22 OriGene 3'-UTR clone (see all 2): PTPN22 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PTPN22
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for PTPN22

Genatlas biochemistry entry for PTPN22:

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

protooncogene CBL

4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004725	protein tyrosine phosphatase activity	IDA	18056643
GO:0005515	protein binding	IPI	16461343
GO:0016787	hydrolase activity	IEA	--
GO:0016791	phosphatase activity	--	--

About this table

PTPN22 for ontologies About GeneDecksing

Animal Models: 8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ptpn22):

growth/size	hematopoietic system	homeostasis/metabolism	immune system	life span-post-weaning/aging
liver/biliary system	renal/urinary system	respiratory system

PTPN22 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

PTPN22 for pathways About GeneDecksing

1 Millipore Pathway for PTPN22

Anandamide biosynthesis and metabolism

1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for PTPN22

CTLA4 Signaling in Cytotoxic T Lymphocytes

SABiosciences Pathway-Focused PCR Array including PTPN22: PAHS-045A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PTPN22

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

5/11 Interacting proteins for PTPN22 (Q9Y2R2^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CD247	P20963¹	EBI-1211241,EBI-1165705
CDH2	P19022¹	EBI-1211241,EBI-2256711
ERBB2	P04626¹	EBI-1211241,EBI-641062
GHR	P10912¹	EBI-1211241,EBI-286316
LCK	P06239¹	EBI-1211241,EBI-1348

About this table

5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006470	protein dephosphorylation	IEA	--
GO:0007165	signal transduction	TAS	10068674
GO:0016311	dephosphorylation	--	--
GO:0030217	T cell differentiation	--	--
GO:0050852	T cell receptor signaling pathway	--	--

About this table

PTPN22 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PTPN22 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PTPN22
3 Novoseek chemical compound relationships for PTPN22 gene

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)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PTPN22 Sigma-Aldrich shRNA Panels and shRNA for PTPN22
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PTPN22 OriGene shRNA RFP (see all 2): PTPN22 OriGene basic RS shRNA (see all 2): PTPN22 OriGene siRNA (see all 2): PTPN22
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PTPN22

miRNA:		Sigma-Aldrich microRNA Mimics for PTPN22 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PTPN22
		Search SABiosciences for Assays for microRNAs that regulate PTPN22

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PTPN22 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PTPN22 OriGene untagged cDNA clones in CMV expression vector (see all 3): PTPN22 OriGene 3'-UTR Clone (see all 2): PTPN22 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PTPN22

Primers:		OriGene genome-wide validated SYBR primer pairs: PTPN22 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PTPN22: PPH10382A

REFSEQ mRNAs for PTPN22 gene (3 alternative transcripts):

NM_001193431.1 NM_012411.4 NM_015967.5

Additional cDNA sequence:

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

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):

AW504119 AA906845 AW576125 AA748329 BM458477 BX482744 AA298761 BX099228

NM_015967 AL597518 BC071670 BG498752 CD687350 AF001846 BG198463 AI016085

NM_012411 BG505436 AV705592 AF077031 BC017785 BG219901 BG536550 BU928431

highest scoring ESTs for PTPN22:

AF001846 AA906845 AF077031 AF150732 AL597518 BC017785 BC071670 BE241812 BG498752 BM458477

Unigene Cluster for PTPN22:

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

Hs.535276 [show with all ESTs]

Unigene Representative Sequence: NM_015967

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for PTPN22
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000359785(uc001eds.2 uc009wgq.2 uc010owo.1 uc001edt.2 uc009wgr.2 uc009wgs.2)

ENST00000460620 ENST00000469077 ENST00000484147(uc001edu.2) ENST00000420377

ENST00000354605

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PTPN22 expression in normal and diseased human tissues

¹ / ² / ³

10 probe-sets matching PTPN22 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36808_at²^{, 3}	U95-A	1	1.00	1.00	0.99	1.16	AF001846	1.00	1.00	1.00	1
60604_at²^{, 3}	U95-C	1	0.88	1.00	0.98	0.85	AA906845	0.80	1.00	0.91	1
208010_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_012411	0.60	1.00	0.82	1
206060_s_at²^{, 3}	U133-A	1	0.91	1.00	--	--	NM_015967	0.60	1.00	0.82	1
236539_at²^{, 3}	U133-B	1	0.64	1.00	--	--	AW665758	0.40	1.00	0.76	1
208011_at²^{, 3}	U133-A	1	0.46	1.00	--	--	NM_012411	0.60	1.00	0.82	1
208010_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206060_s_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--
236539_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--
208011_at²	U133Plus2	1	0.46	1.00	--	--	--	--	--	--	--

About this table

PTPN22 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

PTPN22 gene electronic northern expression

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.535276

Expression variation in blood from EXPOLDB for PTPN22

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

Primers:		OriGene genome-wide validated SYBR primer pairs: PTPN22 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PTPN22: PPH10382A

SABiosciences Expression via Pathway-Focused PCR Array including PTPN22: PAHS-045A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PTPN22 gene from 5/8 species (see all 8)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PTPN22¹	--	protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less	86.76(n) 78.83(a)	483124 XM_540240.2 XP_540240.2
chimpanzee (Pan troglodytes)	PTPN22¹	--	protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less	99.75(n) 99.5(a)	457136 XM_513663.2 XP_513663.2
cow (Bos taurus)	PTPN22¹	--	protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less	85.35(n) 76.09(a)	518992 XM_597200.3 XP_597200.3
rat (Rattus norvegicus)	Ptpn22¹	--	protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less	78.78(n) 69.79(a)	295338 XM_215658.4 XP_215658.4
mouse (Mus musculus)	Ptpn22^{1 , 5}	3 (45.52 cM)⁵	protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less^{1, 5}	79.82(n)¹ 71.68(a)¹	19260¹ NM_008979.1¹ NP_033005.1¹ AK153812⁵ AK169559⁵ (see all 7)

About this table Species with no ortholog for PTPN22

ENSEMBL Gene Tree for PTPN22 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PTPN22 gene

PTPN14² PTPN21² PTPN18² PTPN12²

PTPN22 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs1217412^1,2	C,F,A,	114357211(+)	`ATGTAA/GAAAAG`	1	--	ut3¹ ese³		14		NA EA MN WA	796
rs2476601^1,2	C,F,	114377568(+)	`TGTCCA/C/G/T TACAG`	4	R	mis¹ ref¹ ese³		18		NS EA NA WA	1336
rs33996649^1,2	C,	114394689(+)	`TTTCCC/TGGATC`	4	Q R	mis¹ ref¹		0	--	--	--	--
rs34590413^1,2	C	114397665(+)	`AGTTCA/GAGTTT`	4	R X	ref¹ ¹		0	--	--	--	--
rs34778759^1,2	--	114414324(+)	`CCTCC-/AAAAAG`	2	--	ut5¹		0	--	--	--	--
rs34910038^1,2	--	114357089(+)	`TCAAGA/TGCAGT`	1	--	ut3¹		0	--	--	--	--
rs35910094^1,2	--	114397102(-)	`TTGCTA/CAAAGA`	4	L	ref¹ syn¹		0	--	--	--	--
rs41313296^1,2	--	114362225(+)	`AGTTAA/TTTGAC`	2	N I	ref¹ mis¹		0	--	--	--	--
rs56048322^1,2	C	114372214(-)	`AGTAAC/GGTAAA`	2	N K	mis¹ ref¹		0	--	--	--	--
rs56174946^1,2	--	114380666(+)	`AATTCA/GAAAGG`	4	F	syn¹ ref¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for PTPN22 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for PTPN22
3 CNVs: 2322 3306 64644

QIAGEN SeqTarget long-range PCR primers for resequencing PTPN22

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PTPN22 for disorders About GeneDecksing

OMIM: 600716 disorders: 222100 180300 152700

10/19 Novoseek disease relationships for PTPN22 gene (see all 19)

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)

About this table

Human Gene Mutation Database (HGMD): PTPN22
Genetic Association Database (GAD): PTPN22
Human Genome Epidemiology (HuGE) Navigator: PTPN22 (251 documents)

Export disorders and mutations for PTPN22 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/316 PubMed articles for PTPN22 gene, integrated from 7 sources (see all 316):
(articles sorted by number of sources associating them with PTPN22)

Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PubMed id 10068674)^{1, 2, 3, 7} 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, 7} 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, 7} Reddy M.V....Alarcon-Riquelme M.E. (2005)
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. (PubMed id 16175503)^{1, 4, 7} 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, 7} 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, 7} Hinks A....Worthington J. (2005)
Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. (PubMed id 15734872)^{1, 4, 7} 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, 7} Lee A.T....Gregersen P.K. (2005)
A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease. (PubMed id 16164701)^{1, 4, 7} Wagenleiter S.E....Jagiello P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Intellectual Property for PTPN22 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

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Patent Information for PTPN22 gene:
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