Hs03621237_cn

• Gene Symbol: MDH2
• Assay Reference Genome Location: Chr.7:76065699 on build GRCh38
• Cytoband: 7q11.23

Target Gene Details

• Entrez Gene ID: 4191
• Gene Name: malate dehydrogenase 2
• Gene Aliases: M-MDH, MDH, MGC:3559, MOR1
• Location: Chr.7:76048019-76067508 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MDH2	NM_001282403.1			NP_001269332.1
	NM_001282404.1			NP_001269333.1
	NM_005918.3			NP_005909.2
	AF047470.1			AAC03787.1
	AK095803.1
	AK290779.1
	AK293460.1
	AK316587.1
	BC001917.1			AAH01917.1
	CR536548.1			CAG38785.1
	DQ402957.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428173	Chr.7:75934531 - 76173362 on Build GRCh38	Gain	TMEM120A STYXL1 MDH2 SNORA14A POR GTF2IP7 LOC107986711
nsv528969	Chr.7:75074053 - 76920728 on Build GRCh38	Gain	ZP3 RHBDD2 TMEM120A STYXL1 DTX2 CCL26 SPDYE16 PMS2P10 POMZP3 PMS2P2 CCL24 POR LOC100133091 SRRM3 SSC4D PMS2P3 LOC105375355 POM121C STAG3L1 GTF2IP1 SNORA14A YWHAG LOC107986711 SPDYE5 LOC541473 NSUN5P1 LOC441259 MIR4651 HSPB1 MDH2 GTF2IRD2B TRIM73 FDPSP2 HIP1 GTF2IP7 NCF1C
nsv1033450	Chr.7:76051175 - 76190114 on Build GRCh38	Loss	MDH2 GTF2IP7 LOC107986711
dgv120n16	Chr.7:75440769 - 76641919 on Build GRCh38	Deletion	ZP3 RHBDD2 TMEM120A STYXL1 DTX2 CCL26 SPDYE16 POMZP3 CCL24 POR LOC100133091 SRRM3 SSC4D PMS2P3 LOC105375355 POM121C SNORA14A YWHAG LOC107986711 SPDYE5 MIR4651 HSPB1 MDH2 FDPSP2 HIP1 GTF2IP7

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

gluconeogenesis
tricarboxylic acid cycle
oxaloacetate metabolic process
malate metabolic process
internal protein amino acid acetylation
NADH metabolic process

Function(s)

L-malate dehydrogenase activity
protein self-association
poly(A) RNA binding
malate dehydrogenase (NADP+) activity