Hs05457833_cn

• Gene Symbol: NOD2
• Assay Reference Genome Location: Chr.16:50714753 on build GRCh38
• Cytoband: 16q12.1

Target Gene Details

• Entrez Gene ID: 64127
• Gene Name: nucleotide binding oligomerization domain containing 2
• Gene Aliases: ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1
• Location: Chr.16:50693581-50733077 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NOD2	NM_001293557.1			NP_001280486.1
	NM_022162.2			NP_071445.1
	XM_005256084.3			XP_005256141.1
	XM_006721242.3			XP_006721305.1
	XM_006721243.3			XP_006721306.1
	XM_011523259.2			XP_011521561.1
	XM_011523260.2			XP_011521562.1
	XM_017023535.1			XP_016879024.1
	XM_017023536.1			XP_016879025.1
	XM_017023537.1			XP_016879026.1
	XM_017023538.1			XP_016879027.1
	AF178930.1			AAG33677.1
	AY187233.1
	AY187234.1
	AY187235.1
	AY187236.1
	AY187237.1
	AY187238.1
	AY187239.1
	AY187240.1
	AY187241.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3638608	Chr.16:50654254 - 50854693 on Build GRCh38	Gain	LOC101927272 CYLD MIR3181 SNX20 NOD2

More Information

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

Panther Classification:

Molecular Function -

non-motor microtubule binding protein

Gene Ontology Categories:

Process(es)

activation of MAPK activity
cytokine production involved in immune response
cytokine secretion involved in immune response
positive regulation of dendritic cell antigen processing and presentation
positive regulation of type 2 immune response
defense response
JNK cascade
detection of biotic stimulus
detection of bacterium
maintenance of gastrointestinal epithelium
response to muramyl dipeptide
detection of muramyl dipeptide
positive regulation of interleukin-1 beta production
positive regulation of interleukin-10 production
positive regulation of interleukin-17 production
positive regulation of interleukin-6 production
positive regulation of interleukin-8 production
positive regulation of tumor necrosis factor production
positive regulation of stress-activated MAPK cascade
activation of MAPK activity involved in innate immune response
intracellular signal transduction
defense response to bacterium
positive regulation of I-kappaB kinase/NF-kappaB signaling
positive regulation of phosphatidylinositol 3-kinase activity
innate immune response
positive regulation of Notch signaling pathway
positive regulation of transcription from RNA polymerase II promoter
positive regulation of JNK cascade
positive regulation of gamma-delta T cell activation
positive regulation of epithelial cell proliferation
positive regulation of interleukin-1 beta secretion
regulation of inflammatory response
positive regulation of B cell activation
positive regulation of NF-kappaB transcription factor activity
protein oligomerization
positive regulation of oxidoreductase activity
positive regulation of nitric-oxide synthase biosynthetic process
positive regulation of prostaglandin-endoperoxide synthase activity
positive regulation of ERK1 and ERK2 cascade
nucleotide-binding oligomerization domain containing signaling pathway
nucleotide-binding oligomerization domain containing 2 signaling pathway
cellular response to muramyl dipeptide
positive regulation of cytokine production involved in inflammatory response
positive regulation of NIK/NF-kappaB signaling
negative regulation of macrophage apoptotic process
positive regulation of prostaglandin-E synthase activity

Function(s)

actin binding
protein binding
ATP binding
enzyme binding
protein kinase binding
Hsp70 protein binding
muramyl dipeptide binding
peptidoglycan binding
CARD domain binding
Hsp90 protein binding