Hs02170900_cn

• Gene Symbol: JAK3
• Assay Reference Genome Location: Chr.19:17838282 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 3718
• Gene Name: Janus kinase 3
• Gene Aliases: JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK
• Location: Chr.19:17824782-17848071 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JAK3	NM_000215.3			NP_000206.2
	XM_005259896.3			XP_005259953.1
	XM_011527990.1			XP_011526292.1
	XM_011527991.2			XP_011526293.1
	AK296383.1
	BC028068.1			AAH28068.1
	KU178153.1
	KU178154.1
	U09607.1			AAA19626.1
	U31601.1			AAC50226.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv50n68	Chr.19:17671882 - 17842923 on Build GRCh38	Loss	MAP1S JAK3 UNC13A INSL3 FCHO1 B3GNT3

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

MAPK cascade
adaptive immune response
negative regulation of dendritic cell cytokine production
protein phosphorylation
enzyme linked receptor protein signaling pathway
positive regulation of cytosolic calcium ion concentration
tyrosine phosphorylation of STAT protein
STAT protein import into nucleus
cell migration
peptidyl-tyrosine phosphorylation
B cell differentiation
negative regulation of interleukin-10 production
negative regulation of interleukin-12 production
intracellular signal transduction
interleukin-4-mediated signaling pathway
peptidyl-tyrosine autophosphorylation
positive regulation of T cell proliferation
positive regulation of activated T cell proliferation
tyrosine phosphorylation of Stat5 protein
T cell homeostasis
positive regulation of GTPase activity
innate immune response
negative regulation of FasL biosynthetic process
negative regulation of T-helper 1 cell differentiation
positive regulation of immune response
negative regulation of T cell activation
positive regulation of calcium ion transport
JAK-STAT cascade involved in growth hormone signaling pathway
regulation of T cell apoptotic process
negative regulation of thymocyte apoptotic process
response to interleukin-2
response to interleukin-4
response to interleukin-15
response to interleukin-9

Function(s)

protein tyrosine kinase activity
non-membrane spanning protein tyrosine kinase activity
Ras guanyl-nucleotide exchange factor activity
receptor binding
protein binding
ATP binding
protein phosphatase binding