Hs05018260_cn

• Gene Symbol: EZH2
• Assay Reference Genome Location: Chr.7:148809507 on build GRCh38
• Cytoband: 7q36.1

Target Gene Details

• Entrez Gene ID: 2146
• Gene Name: enhancer of zeste 2 polycomb repressive complex 2 subunit
• Gene Aliases: ENX-1, ENX1, EZH1, EZH2b, KMT6, KMT6A, WVS, WVS2
• Location: Chr.7:148807372-148884662 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EZH2	NM_001203247.1			NP_001190176.1
	NM_001203248.1			NP_001190177.1
	NM_001203249.1			NP_001190178.1
	NM_004456.4			NP_004447.2
	NM_152998.2			NP_694543.1
	XM_005249962.4			XP_005250019.1
	XM_005249963.4			XP_005250020.1
	XM_005249964.4			XP_005250021.1
	XM_011515883.2			XP_011514185.1
	XM_011515884.2			XP_011514186.1
	XM_011515885.2			XP_011514187.1
	XM_011515886.2			XP_011514188.1
	XM_011515887.2			XP_011514189.1
	XM_011515888.2			XP_011514190.1
	XM_011515889.2			XP_011514191.1
	XM_011515890.2			XP_011514192.1
	XM_011515891.2			XP_011514193.1
	XM_011515892.2			XP_011514194.1
	XM_011515893.2			XP_011514195.1
	XM_011515894.2			XP_011514196.1
	XM_011515895.2			XP_011514197.1
	XM_011515896.2			XP_011514198.1
	XM_011515897.2			XP_011514199.1
	XM_011515898.2			XP_011514200.1
	XM_017011817.1			XP_016867306.1
	XM_017011818.1			XP_016867307.1
	XM_017011819.1			XP_016867308.1
	XM_017011820.1			XP_016867309.1
	XM_017011821.1			XP_016867310.1
	AB208895.1			BAD92132.1
	AK092676.1
	AK293239.1
	AK302216.1
	AK314291.1
	BC010858.2			AAH10858.1
	BM974565.1
	JF327843.1
	U61145.1			AAC51520.1
	X95653.1			CAA64955.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522305	Chr.7:148771525 - 148811105 on Build GRCh38	Loss	CUL1 EZH2

More Information

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

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
DNA methylation
chromatin organization
transcription, DNA-templated
regulation of transcription, DNA-templated
positive regulation of epithelial to mesenchymal transition
regulation of gliogenesis
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration
cerebellar cortex development
hippocampus development
response to estradiol
negative regulation of transcription elongation from RNA polymerase II promoter
regulation of cell proliferation
regulation of circadian rhythm
positive regulation of MAP kinase activity
negative regulation of sequence-specific DNA binding transcription factor activity
positive regulation of GTPase activity
negative regulation of epidermal cell differentiation
negative regulation of gene expression, epigenetic
negative regulation of transcription, DNA-templated
negative regulation of retinoic acid receptor signaling pathway
rhythmic process
negative regulation of striated muscle cell differentiation
cellular response to hydrogen peroxide
G1 to G0 transition
histone H3-K27 methylation
protein localization to chromatin
positive regulation of protein serine/threonine kinase activity
positive regulation of dendrite development
negative regulation of G1/S transition of mitotic cell cycle

Function(s)

core promoter binding
DNA binding
chromatin binding
RNA binding
protein binding
protein-lysine N-methyltransferase activity
histone-lysine N-methyltransferase activity
chromatin DNA binding
histone methyltransferase activity
ribonucleoprotein complex binding
sequence-specific DNA binding
histone methyltransferase activity (H3-K27 specific)
promoter-specific chromatin binding