Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

JAK3

contributors: mct/npt - updated : 02-10-2009

HGNC name	Janus kinase 3
HGNC id	6193

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCIDJ severe combined immunodeficiency, T-cell negative, B cell positive, NK cell negative
Location	19p13.11      Physical location : 17.935.594 - 17.958.841
Synonym name	Janus kinase 3 (a protein tyrosine kinase, leukocyte)
	tyrosine-protein kinase JAK3
Synonym symbol(s)	JAKL, LJAK, JAK-3, L-JAK
EC.number	2.7.10.2, 2.7.10.1

DNA

TYPE	functioning gene
STRUCTURE	23.25 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   transcription factor
text structure	putative Sp-1, AP-1, Ets, Stat, and other binding sites, important regulators of Jak3 expression.

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see MYO9B

regionally located

tightly linked to INSL3 locus

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000215 24 - 5449 NP_000206 125 1124 - Mullighan (2009) variant 2 - - 3620 isoform 2 - 1094 breast - also called JAK3b variant 1 - - - isoform 1 - - activated monocytes - also called JAK3m

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine       Lymphoid/Immune lymph node           spleen         Reproductive female system breast

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a C terminal kinase domain, JH1 binding SH2 or SH3 motif
	a pseudokinase domain tandemly linked to the N site of the former
	five more JAK homology domain (JH), with a N terminus region (JH6, JH7) critical for receptor binding and signal transduction

HOMOLOGY

interspecies

ortholog to murine Jak3

intraspecies	paralog to JAK1
	paralog to JAK2

Homologene

FAMILY	protein kinase superfamily
	Tyr protein kinase family
	JAK subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	promoting tyrosine phosphorylation of signal transducers and activator of transcription (STAT) factors
	nonreceptor tyrosine kinase essential for signaling via cytokine receptors that comprise the common gamma-chain (gammac), the receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	associating primarily with IL receptors IL2, IL4,IL7, IL9, IL15, gamma chain (ILR2G)
	JAK3, FES and PLD2 interactions in transformed cells maintain PLD2 at an enhanced level that leads to abnormal cell growth

cell & other

REGULATION

activated by

cytokine receptor

Other	regulated by phosphorylation of tyrosine residues in the putative activation loop of the kinase domain
	recruited by the oncogenic latent membrane protein 1 (LMP1) of Epstein-Barr virus, to induce intracellular signaling pathways

ASSOCIATED DISORDERS

corresponding disease(s)

SCIDJ

related resource

JAK3base:

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in acute megakaryocytic leukemia tumoral somatic mutation       in pediatric acute lymphoblastic leukemia (Mullighan 2009) tumoral somatic mutation     gain of function in adult T-cell leukemia/lymphoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	inhibition of JAK signaling is a logical target for therapeutic intervention in JAK mutated ALL (Mullighan 2009)

ANIMAL & CELL MODELS