Hs02488912_cn

• Gene Symbol: MTCH2
• Assay Reference Genome Location: Chr.11:47630580 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 23788
• Gene Name: mitochondrial carrier 2
• Gene Aliases: HSPC032, MIMP, SLC25A50
• Location: Chr.11:47604309-47642654 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTCH2	NM_001317231.1			NP_001304160.1
	NM_001317232.1			NP_001304161.1
	NM_001317233.1			NP_001304162.1
	NM_014342.3			NP_055157.1
	XM_006718172.2			XP_006718235.1
	XM_011519959.2			XP_011518261.1
	XM_011519960.2			XP_011518262.1
	XM_011519961.2			XP_011518263.1
	XM_017017462.1			XP_016872951.1
	XM_017017463.1			XP_016872952.1
	AF085361.1			AAD40196.1
	AF176008.1			AAD52646.1
	AK223097.1			BAD96817.1
	AK295218.1
	AK313032.1
	AY380792.1			AAQ88168.1
	BC000875.1			AAH00875.1
	BQ960010.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832142	Chr.11:47496403 - 47659758 on Build GRCh38	Loss	PTPMT1 NDUFS3 MTCH2 AGBL2 FAM180B C1QTNF4 KBTBD4 CELF1
nsv469858	Chr.11:47625963 - 47815620 on Build GRCh38	Gain	MTCH2 AGBL2 FNBP4 NUP160
nsv509405	Chr.11:47571038 - 47663104 on Build GRCh38	Insertion	PTPMT1 NDUFS3 MTCH2 AGBL2 FAM180B C1QTNF4 KBTBD4
nsv825872	Chr.11:47543873 - 47638778 on Build GRCh38	Gain	PTPMT1 NDUFS3 MTCH2 FAM180B C1QTNF4 KBTBD4 CELF1

More Information

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

Panther Classification:

Molecular Function -

mitochondrial carrier protein

Gene Ontology Categories:

Process(es)

positive regulation of apoptotic process
protein localization to mitochondrion
hepatocyte apoptotic process
regulation of mitochondrial membrane permeability involved in apoptotic process