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JAK3 Gene

protein-coding GIFtS: 71

GC19M017790

Janus kinase 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
EC 2.7.10.2 ^³
JAK-3 ^¹, ², ³
JAK3_HUMAN ^¹, ²
JAKL ^¹, ², ⁵
L-JAK ^¹, ², ³
LJAK ^¹, ²

Descriptions
Janus kinase 3 ^², ³
Janus kinase 3 (a protein tyrosine kinase, leukocyte) ^²
Leukocyte janus kinase ^², ³
tyrosine-protein kinase JAK3 ^²

External Ids
HGNC: 6193¹
Entrez Gene: 3718²
UniProtKB: P52333³
Ensembl: ENSG00000105639⁷

Search outside databases for aliases for JAK3 gene

Previous GC identifers: GC19M018430 GC19M018328 GC19M017780 GC19M017797 GC19M017789

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

EntrezGene summary for JAK3:

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases

involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly

expressed in immune cells and transduces a signal in response to its activation via tyrosine

phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal

SCID (severe combined immunodeficiency disease). [provided by RefSeq]

UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333

Function: Tyrosine kinase of the non-receptor type, involved in the interleukin-2 and interleukin-4

signaling pathway. Phosphorylates STAT6, IRS1, IRS2 and PI3K

Gene Wiki entry for JAK3 (Janus_kinase_3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the JAK3 gene

Entrez Gene cytogenetic band: 19p13.1 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13-p12

JAK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M017790: (about GC identifiers)

Start:	17,797,961 bp from pter
End:	17,819,800 bp from pter
Size:	21,840 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000019.8 NT_011295.10

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333 (See protein sequence)

Recommended Name: Tyrosine-protein kinase JAK3

Size: 1124 amino acids; 125099 Da

Subunit: Interacts with STAM2 and MYO18A (By similarity). Interacts with SHB

Subcellular location: Endomembrane system; Peripheral membrane protein (By similarity). Note=Wholly

intracellular, possibly membrane associated (By similarity)

PDB structures from and Proteopedia :

1YVJ (3D)

Secondary accessions: Q13259 Q13260 Q13611 Q9Y6S2

Alternative splicing: 3 isoforms: P52333-1 P52333-2 P52333-3

Post-translational modifications:

Tyrosine phosphorylated in response to IL-2 and IL-4¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000206.2

ENSEMBL proteins:

ENSP00000355038

Human Recombinant Proteins

	Invitrogen human recombinant proteins for JAK3
	Millipore Purified and/or Recombinant JAK3 Protein
	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
	Recombinant Proteins from Abcam (JAK3)
	Human Recombinant Proteins from Abnova (JAK3)

OriGene Purified Recombinant Human Protein: JAK3

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005856	cytoskeleton	IEA	--
GO:0012505	endomembrane system	IEA	--
GO:0016020	membrane	IEA	--

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Antibodies for JAK3:

	Invitrogen Antibodies for JAK3
	Millipore Mono- and Polyclonal Antibodies for the study of JAK3
	Sigma-Aldrich Antibodies for JAK3
	R&D Systems Antibodies for JAK3
	Cell Signaling Technology (CST) Antibodies for JAK3
	Antibodies from Abcam (JAK3), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (JAK3)
	Novus Biologicals Antibodies for JAK3

Assays for JAK3:

	Invitrogen Assays for JAK3
	Millipore Kits and Assays for the Analysis of JAK3
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P52333

ProtoNet protein and cluster: P52333

2 Blocks protein families:

IPB008266 Tyrosine protein kinase

IPB009127 Janus kinase family signature

UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333

Domain: Possesses two phosphotransferase domains. The second one probably contains the catalytic

domain (By similarity), while the presence of slight differences suggest a different role for

domain 1

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily

Similarity: Contains 1 FERM domain

Similarity: Contains 1 protein kinase domain

Similarity: Contains 1 SH2 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JAK3)
		Millipore RNAi Products for the Analysis of JAK3 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (JAK3)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000215

Applied Biosystems Silencer® siRNAs for JAK3

Sigma-Aldrich siRNA and siRNA Panels for JAK3

Sigma-Aldrich shRNA Panels and shRNA for JAK3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000215
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000215
untagged cDNA clones in CMV expression vector (see all 2): NM_000215

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000215

UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333

Function: Tyrosine kinase of the non-receptor type, involved in the interleukin-2 and interleukin-4

signaling pathway. Phosphorylates STAT6, IRS1, IRS2 and PI3K

Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

Enzyme Number (IUBMB): EC 2.7.10.2

Genatlas biochemistry entry for JAK3:

Janus tyrosine kinase 3,non receptor type,class III ,cytosolic,tightly linked with INSL3

locus,expressed in natural killer cells and other activated leukocytes,associating primarily with

IL receptors common gamma chain,involved in their signal transduction,also critical for lymphoid

development,also potential modulator of CD40 (TNFRSF5) signaling

4 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Jak3):

digestive/alimentary

hematopoietic system

immune system

life span-post-weaning/aging

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	--
GO:0004718	Janus kinase activity	IEA	--
GO:0005515	protein binding	IPI	9045636
GO:0005524	ATP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/13 Sigma-Aldrich "Your Favorite Gene" Pathways for JAK3 (Your Favorite Gene powered by Ingenuity) (see all 13 )

IL-15 Production
Glucocorticoid Receptor Signaling
IL-15 Signaling
IL-9 Signaling
IL-4 Signaling

GeneDecks JAK3 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for JAK3

2 Interacting proteins for JAK3 (P52333^{1, 2}) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
KHDRBS1 Q07666¹ EBI-518246, EBI-1364
ERBB3 P21860² MINT-74564
About this table
5 Gene Ontology (GO) biological process terms (links to tree view):
GO ID Qualified GO term Evidence PubMed IDs
GO:0007167 enzyme linked receptor protein signaling pathway IEA --
GO:0007243 protein kinase cascade IEA --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
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(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

Enzo Life Sciences drugs & compounds for JAK3

Sigma-Aldrich Small Molecules for JAK3:

Inhibitor

Compounds for JAK3 available from Tocris Bioscience

Compound	Action	CAS number
ZM 449829	Potent, selective JAK3 inhibitor	[4452-06-6]
WHI-P 154	JAK3 kinase inhibitor. Also inhibits EGFR	[211555-04-3]
AG 490	EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor	[133550-30-8]
ZM 39923 hydrochloride	Potent, selective JAK3 inhibitor	[58753-54-1]

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10/14 Novoseek chemical compound relationships for JAK3 gene (see all 14 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	82.26	267	10037026 (6), 17537734 (4), 7479924 (3), 9391116 (3) (see all 99)
[alcl]	57.27	5	15385932 (1), 12934099 (1), 16763206 (1)
phosphatidylinositol	37.28	1	9045636 (1)
quinazoline	36.21	1	10632369 (1)
wortmannin	26.96	3	14716795 (2), 15740849 (1)
gp 130	22.70	5	9618263 (1), 10872892 (1), 11557047 (1)
phosphotyrosine	9.35	1	7657825 (1)
pyrimidine	6.08	2	16978033 (1), 17616278 (1)
lipid	5.09	3	15584866 (1), 16544577 (1)
nitric oxide	1.85	3	18068105 (2), 9637481 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JAK3)
		Millipore RNAi Products for the Analysis of JAK3 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (JAK3)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000215

Sigma-Aldrich siRNA and siRNA Panels for JAK3

Sigma-Aldrich shRNA Panels and shRNA for JAK3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000215

REFSEQ mRNAs for JAK3 gene:

NM_000215.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000215

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000215
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000215
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000215

Additional cDNA sequence:

AK296383.1 AK304392.1 BC028068.1 U08340.1 U09607.1 U31317.1 U31601.1 U57096.1

8 DOTS entries:

DT.95133732 DT.307733 DT.92415599 DT.100016656 DT.92415598 DT.95324786 DT.92021985 DT.95084104

24/75 AceView cDNA sequences (see all 75 ):

AA233621 AI651109 BC028068 BM561964 CF138282 AA295850 BQ709825 AA252892

AW500013 BM756498 BX092592 BG397564 NM_000215 U31601 AW503697 AW502902

BF868609 U57096 BX116593 AW501452 U09607 AA233419 AA490900 AW501582

highest scoring ESTs for JAK3:

U31601 BC028068 BM146700 BX362245 U09607 U31317 AI760261 AW499498 AW503697 AW504672

Unigene Cluster for JAK3:

Janus kinase 3 (a protein tyrosine kinase, leukocyte)

Hs.515247 [show with all ESTs]

Unigene Representative Sequence: NM_000215

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for JAK3 (see all 7 )

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b	^	20	^	21a	·	21b	^	22a	·	22b	^
SP1:																			-																				-												-
SP2:																			-
SP3:
SP4:
SP5:																																																			-

ExUns:	23a	·	23b	^	24a	·	24b	·	24c	^	25	^	26a	·	26b	·	26c
SP1:
SP2:
SP3:
SP4:													-
SP5:

About this scheme

ECgene alternative splicing isoforms for JAK3

1 Ensembl transcript including schematic representation:

ENST00000361469

(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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JAK3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for JAK3

¹ / ² / ³

13 probe-sets matching JAK3 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
2005_s_at²^{, 3}	U95-A	1	1.00	1.00	0.62	1.19	U31317	0.80	1.00	0.91	1
46152_at²^{, 3}	U95-B	1	1.00	1.00	0.88	1.54	AI760261	0.60	1.00	0.82	1
2006_at²^{, 3}	U95-A	1	1.00	1.00	0.11	0.55	U31601	1.00	1.00	1.00	1
2007_g_at²^{, 3}	U95-A	1	1.00	1.00	0.39	0.93	U31601	1.00	1.00	1.00	1
1547_at²^{, 3}	U95-A	1	1.00	1.00	0.86	0.84	U09607	0.80	1.00	0.91	1
211109_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U31601	1.00	1.00	1.00	1
211108_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U31601	1.00	1.00	1.00	1
227677_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BF512748	0.40	1.00	0.76	1
207187_at²^{, 3}	U133-A	2	1.00	0.95	--	--	NM_000215	0.60	1.00	0.82	1
211109_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211108_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
227677_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
207187_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

GeneDecks JAK3 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAGCTTTAAA

SOURCE GeneReport for Unigene cluster: Hs.515247
Expression variation in blood from EXPOLDB for JAK3
UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333
Tissue specificity: In NK cells and an NK-like cell line but not in resting T-cells or in other
tissues. The S-form is more commonly seen in hematopoietic lines, whereas the B- and M-forms are
detected in cells both of hematopoietic and epithelial origins

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for JAK3 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	JAK3¹	--	Janus kinase 3 (a protein tyrosine kinase, leukocyte)	88.59(n) 90.37(a)	610004 XM_847380.1 XP_852473.1
chimpanzee (Pan troglodytes)	JAK3¹	--	Janus kinase 3 (a protein tyrosine kinase, leukocyte)	99.63(n) 99.72(a)	455848 XM_512502.2 XP_512502.2
rat (Rattus norvegicus)	Jak3¹	--	Janus kinase 3	79.33(n) 81.73(a)	25326 NM_012855.1 NP_036987.1
mouse (Mus musculus)	Jak3^{1, 5}	8 (33.00 cM)⁵	Janus kinase 3^{1, 5}	80.33(n)¹ 83.91(a)¹	16453¹ NM_010589.4¹ NP_034719.2¹ AK038268⁵ AK088365⁵ (see all 16)
chicken (Gallus gallus)	JAK3¹	--	Janus kinase 3 (a protein tyrosine kinase, leukocyte)	67(n) 61.54(a)	395845 NM_204996.1 NP_990327.1

About this table Species with no ortholog for JAK3

ENSEMBL Gene Tree for JAK3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for JAK3 gene

JAK2² TYK2² JAK1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/293 NCBI SNPs in JAK3 are shown (see all 293 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 67)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs11888^1,2	A,C,F,H,O	17796626(+)	`AAACAT/CTTCCA`	1	--	ut3¹		9		MN EU EA WA NA	818
	rs3008^1,2	A,C,F,H	17798429(-)	`CCCCAT/CGACAT`	1	--	ut3¹ ese³		19		MN NS CSAM EA EU WA	1708
	rs7254346^1,2	A,C,F,H	17819777(+)	`TGGACT/CTTCGA`	1	--	ut5¹		8		EU EA WA	838
	rs3213415^1,2	C,F,H	17797355(-)	`GACAAG/AAGCAG`	1	--	ut3¹		9		NS EU EA WA NA	624
	rs3212723^1,2	C,F,H	17815215(-)	`ACCTGC/ACAGTC`	1	T/P	mis¹ ese³		19		NS EU EA WA NA	1718
	rs13345965^1,2	C,F,H	17820012(+)	`TAGCAC/TAGAGA`	1	--	ng3¹		4		EU EA WA	420
	rs3213409^1,2	C,F,H	17806696(-)	`GTGGCG/ATCACC`	1	I/V	mis¹ ese³		16		NS EU EA WA	1562
--	rs10422952^1,2	A,C	17820322(+)	`gcgatC/Tacttg`	1	--	ng3¹ tfbs³		0	--	--	--	--
	rs3212799^1,2	F,H	17798516(-)	`CTGTTG/AACTGG`	1	--	ut3¹ ese³		6		NS EU EA WA	512
	rs916019^1,2	C,H	17816093(-)	`CTCCTC/TTGGGG`	1	F/S	mis¹ trp³		9		MN CSAM EA EU WA	812

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HapMap Linkage Disequilibrium images for JAK3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 600173

UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333

Defects in JAK3 are a cause of severe combined immunodeficiency autosomal recessive

T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-)SCID) [MIM:600802]. SCID refers to

a genetically and clinically heterogeneous group of rare congenital disorders characterized by

impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody

levels. Patients with SCID present in infancy with recurrent, persistent infections by

opportunistic organisms. The common characteristic of all types of SCID is absence of

T-cell-mediated cellular immunity due to a defect in T-cell development

10/39 Novoseek disease relationships for JAK3 gene (see all 39 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
severe combined immunodeficiency	83.93	35	16418296 (2), 15220007 (2), 10477719 (1), 10972897 (1) (see all 29)
severe combined immunodeficiency, x-linked	83.37	7	7973658 (2), 9063412 (1), 9843216 (1), 8557662 (1) (see all 5)
megakaryoblastic leukemia acute	69.85	7	18160671 (1), 18297515 (1), 16843266 (1), 17252020 (1) (see all 7)
myeloproliferative disorders	62.73	6	18397343 (2), 18160671 (1), 17644747 (1), 18682296 (1) (see all 5)
polycythemia vera	51.28	1	18291658 (1)
leukemogenesis	50.55	3	19047679 (1), 16843266 (1)
anaplastic large cell lymphoma	44.65	2	12934099 (1), 16554750 (1)
leukemia	41.83	8	18397343 (3), 10389946 (1), 10229324 (1), 10037026 (1)
lymphoma t-cell	35.15	3	10229324 (1), 9613985 (1), 16170336 (1)
somatic mutations	31.55	2	18160671 (1), 18559588 (1)

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Genatlas disease: JAK3

immunodeficiency,severe,combined,with decreased T and NK cells and normal B cells (T-B+NK-)

Human Gene Mutation Database: JAK3
Human Genome Epidemiology Navigator: JAK3 (6 documents)

(Possibly Related Articles in Doctor's Guide)
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Experimental Drug Improves Remission Rates in Rheumatoid Arthritis Patients: Presented at EULAR

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

10/418 PubMed articles for JAK3 gene (see all 418 ):

Expression of Janus kinase 3 in human endothelial and other non- lymphoid and non-myeloid cells. (PubMed id 8662778)^{1, 3, 4} Verbsky J.W....Fields L.E. (1996)
Genomic sequence, organization, and chromosomal localization of human JAK3. (PubMed id 8921370)^{1, 2, 3} Riedy M.C.... Johnston J.A. (1996)
A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells. (PubMed id 7559633)^{1, 3, 4} Lai K.S.... Liu E.T. (1995)
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. (PubMed id 9354668)^{1, 3, 4} Candotti F....Villa A. (1997)
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). (PubMed id 7659163)^{1, 3, 4} Macchi P....Notarangelo L.D. (1995)
Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. (PubMed id 14615376)^{1, 3, 4} Roberts J.L....Buckley R.H. (2004)
STAM2, a new member of the STAM family, binding to the Janus kinases. (PubMed id 10899310)^{1, 3, 4} Endo K.... Sugamura K. (2000)
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. (PubMed id 10982185)^{1, 3, 4} Schumacher R.F....Notarangelo L.D. (2000)
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. (PubMed id 9753072)^{1, 3, 4} Bozzi F.... Candotti F. (1998)
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)^{3, 4} Rush J.... Comb M.J. (2005)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3718	HGNC: 6193	AceView: JAK3	Ensembl:ENSG00000105639	euGenes: HUgn3718
ECgene: JAK3	H-InvDB: JAK3

(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)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for JAK3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=JAK3
SeattleSNPs	http://pga.gs.washington.edu/data/jak3/

Licensable Technologies for JAK3
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for JAK3:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for JAK3-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for JAK3		Antibodies for JAK3
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for JAK3		Small molecules for JAK3
	"Your Favorite Gene" Pathways		feedback

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	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (JAK3)
	Antibodies (JAK3)
	Chimera RNAi (JAK3)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for JAK3

	Recombinant Proteins (JAK3)
	Antibodies (JAK3)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Tocris compounds for JAK3

	Drugs for JAK3
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for JAK3

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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JAK3 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for JAK3

Summaries
for JAK3

Genomic Location
for JAK3

Proteins
for JAK3

Protein Domains/
Families
for JAK3

Gene Function
for JAK3

Pathways & Interactions
for JAK3

Drugs & Compounds
for JAK3

Transcripts
for JAK3

Expression
for JAK3

Orthologs
for JAK3

Paralogs
for JAK3

SNPs/Variants
for JAK3

Disorders & Mutations
for JAK3

Medical News
for JAK3

Publications
for JAK3

Search for JAK3

Genome Databases showing JAK3

Other Databases showing JAK3

Specialized Databases showing JAK3

Licensable Technologies
for JAK3

Services
for JAK3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

JAK3 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor JAK3

Summariesfor JAK3

Genomic Locationfor JAK3

Proteinsfor JAK3

Protein Domains/Familiesfor JAK3

Gene Functionfor JAK3

Pathways & Interactionsfor JAK3

Drugs & Compoundsfor JAK3

Transcriptsfor JAK3

Expression for JAK3

Orthologsfor JAK3

Paralogsfor JAK3

SNPs/Variantsfor JAK3

Disorders & Mutationsfor JAK3

Medical Newsfor JAK3

Publicationsfor JAK3

Search for JAK3

Genome Databases showing JAK3

Other Databases showing JAK3

Specialized Databases showing JAK3

Licensable Technologiesfor JAK3

Servicesfor JAK3

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for JAK3

Summaries
for JAK3

Genomic Location
for JAK3

Proteins
for JAK3

Protein Domains/
Families
for JAK3

Gene Function
for JAK3

Pathways & Interactions
for JAK3

Drugs & Compounds
for JAK3

Transcripts
for JAK3

Expression
for JAK3

Orthologs
for JAK3

Paralogs
for JAK3

SNPs/Variants
for JAK3

Disorders & Mutations
for JAK3

Medical News
for JAK3

Publications
for JAK3

Licensable Technologies
for JAK3

Services
for JAK3