Hs01446997_cn

• Gene Symbol: INSL6
• Assay Reference Genome Location: Chr.9:5029882 on build GRCh38
• Cytoband: 9p24.1

Target Gene Details

• Entrez Gene ID: 11172
• Gene Name: insulin like 6
• Gene Aliases: RIF1
• Location: Chr.9:4992408-5185706 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INSL6	XM_011517702.2			XP_011516004.1

Target Gene Details

• Entrez Gene ID: 3717
• Gene Name: Janus kinase 2
• Gene Aliases: JTK10, THCYT3
• Location: Chr.9:4985086-5128183 on Build GRCh38
• Assay Gene Location: Overlaps Exon 4 - Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JAK2	NM_001322194.1			NP_001309123.1
	NM_001322195.1			NP_001309124.1
	NM_001322196.1			NP_001309125.1
	NM_001322198.1			NP_001309127.1
	NM_001322199.1			NP_001309128.1
	NM_004972.3			NP_004963.1
	AF001362.1			AAC23653.1
	AF005216.1			AAB82092.1
	AF058925.1			AAC23982.1
	AK292525.1
	AY973034.1			AAY22962.1
	BC039695.1			AAH39695.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2761481	Chr.9:5024345 - 5040486 on Build GRCh38	Loss	JAK2 INSL6
nsv527495	Chr.9:5008070 - 5417881 on Build GRCh38	Gain	PLGRKT INSL4 CSNK1G2P1 JAK2 RLN1 INSL6 LOC107987044 RLN2

More Information

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

Panther Classification:

Molecular Function -

peptide hormone

Gene Ontology Categories:

Process(es)

spermatid development
biological_process
male gonad development
fertilization
sperm motility
negative regulation of apoptotic process
MAPK cascade
activation of MAPKK activity
adaptive immune response
protein phosphorylation
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
movement of cell or subcellular component
signal transduction
enzyme linked receptor protein signaling pathway
G-protein coupled receptor signaling pathway
positive regulation of cytosolic calcium ion concentration
JAK-STAT cascade
tyrosine phosphorylation of STAT protein
STAT protein import into nucleus
mesoderm development
blood coagulation
positive regulation of cell proliferation
negative regulation of cell proliferation
intrinsic apoptotic signaling pathway in response to oxidative stress
negative regulation of cardiac muscle cell apoptotic process
positive regulation of cell-substrate adhesion
positive regulation of phosphatidylinositol 3-kinase signaling
cell migration
peptidyl-tyrosine phosphorylation
cytokine-mediated signaling pathway
negative regulation of cell-cell adhesion
actin filament polymerization
cell differentiation
erythrocyte differentiation
positive regulation of cell migration
axon regeneration
mineralocorticoid receptor signaling pathway
positive regulation of insulin secretion
response to lipopolysaccharide
positive regulation of phosphoprotein phosphatase activity
positive regulation of interleukin-1 beta production
positive regulation of tumor necrosis factor production
positive regulation of protein import into nucleus, translocation
response to hydroperoxide
tumor necrosis factor-mediated signaling pathway
response to tumor necrosis factor
histone H3-Y41 phosphorylation
intracellular signal transduction
interleukin-12-mediated signaling pathway
peptidyl-tyrosine autophosphorylation
regulation of cell proliferation
tyrosine phosphorylation of Stat3 protein
tyrosine phosphorylation of Stat5 protein
tyrosine phosphorylation of Stat1 protein
positive regulation of tyrosine phosphorylation of Stat3 protein
positive regulation of tyrosine phosphorylation of Stat5 protein
activation of JAK2 kinase activity
regulation of apoptotic process
positive regulation of DNA binding
negative regulation of DNA binding
negative regulation of neuron apoptotic process
positive regulation of GTPase activity
innate immune response
positive regulation of nitric oxide biosynthetic process
positive regulation of cell differentiation
negative regulation of heart contraction
response to antibiotic
protein autophosphorylation
platelet-derived growth factor receptor signaling pathway
regulation of inflammatory response
positive regulation of inflammatory response
positive regulation of peptidyl-tyrosine phosphorylation
positive regulation of cell activation
positive regulation of sequence-specific DNA binding transcription factor activity
positive regulation of nitric-oxide synthase biosynthetic process
interferon-gamma-mediated signaling pathway
regulation of interferon-gamma-mediated signaling pathway
growth hormone receptor signaling pathway
JAK-STAT cascade involved in growth hormone signaling pathway
positive regulation of growth hormone receptor signaling pathway
mammary gland epithelium development
response to interleukin-12
extrinsic apoptotic signaling pathway
activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway

Function(s)

hormone activity
protein kinase activity
protein tyrosine kinase activity
non-membrane spanning protein tyrosine kinase activity
Ras guanyl-nucleotide exchange factor activity
receptor binding
growth hormone receptor binding
interleukin-12 receptor binding
protein binding
ATP binding
protein C-terminus binding
protein kinase binding
heme binding
type 1 angiotensin receptor binding
acetylcholine receptor binding
histone kinase activity (H3-Y41 specific)
SH2 domain binding
histone binding
phosphatidylinositol 3-kinase binding
insulin receptor substrate binding
metal ion binding
peptide hormone receptor binding