Hs05074592_cn

• Gene Symbol: NSMCE2
• Assay Reference Genome Location: Chr.8:125117455 on build GRCh38
• Cytoband: 8q24.13

Target Gene Details

• Entrez Gene ID: 286053
• Gene Name: NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
• Gene Aliases: C8orf36, MMS21, NSE2, ZMIZ7
• Location: Chr.8:125091818-125367125 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSMCE2	NM_173685.2			NP_775956.1
	XM_005250875.2			XP_005250932.1
	XM_005250876.4			XP_005250933.1
	XM_011516974.2			XP_011515276.1
	XM_011516975.1			XP_011515277.1
	XM_017013331.1			XP_016868820.1
	XM_017013333.1			XP_016868822.1
	AK057002.1			BAB71338.1
	BC032797.1			AAH32797.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv465803	Chr.8:125055955 - 125120574 on Build GRCh38	Loss	KIAA0196 NSMCE2
nsv1022954	Chr.8:125105569 - 125168089 on Build GRCh38	Gain	NSMCE2

More Information

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

Gene Ontology Categories:

Process(es)

telomere maintenance via recombination
double-strand break repair via homologous recombination
double-strand break repair via nonhomologous end joining
mitotic nuclear division
protein sumoylation
positive regulation of maintenance of mitotic sister chromatid cohesion
positive regulation of mitotic metaphase/anaphase transition
cell division
cellular senescence

Function(s)

protein binding
zinc ion binding
ligase activity
SUMO transferase activity