Hs02170795_cn

• Gene Symbol: SMPD2
• Assay Reference Genome Location: Chr.6:109441434 on build GRCh38
• Cytoband: 6q21

Target Gene Details

• Entrez Gene ID: 6610
• Gene Name: sphingomyelin phosphodiesterase 2
• Gene Aliases: ISC1, NSMASE, NSMASE1
• Location: Chr.6:109440646-109443922 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMPD2	NM_003080.2			NP_003071.2
	XM_005267109.1			XP_005267166.1
	AJ222801.1			CAA10995.1
	AK310148.1
	AK313515.1
	BC000038.2			AAH00038.1
	DA672570.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3576210	Chr.6:109428085 - 109446498 on Build GRCh38	Gain	PPIL6 SMPD2 MICAL1

More Information

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

Panther Classification:

Molecular Function -

hydrolase, phosphodiesterase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

sphingomyelin metabolic process
glycosphingolipid metabolic process
response to mechanical stimulus
intracellular signal transduction
ceramide biosynthetic process
positive regulation of ceramide biosynthetic process

Function(s)

sphingomyelin phosphodiesterase activity
metal ion binding