Hs03622575_cn

• Gene Symbol: MDH2
• Assay Reference Genome Location: Chr.7:76049376 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 2

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
	BP382246.1
	CR536548.1			CAG38785.1
	DC354622.1

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	MDH2 TMEM120A STYXL1 POR LOC107986711 SNORA14A GTF2IP7
nsv528969	Chr.7:75074053 - 76920728 on Build GRCh38	Gain	NCF1C MIR4651 HIP1 PMS2P10 POM121C LOC105375355 SNORA14A SSC4D CCL26 GTF2IRD2B POMZP3 STYXL1 POR FDPSP2 TRIM73 LOC100133091 DTX2 YWHAG MDH2 GTF2IP1 ZP3 PMS2P2 LOC441259 SPDYE5 LOC541473 SRRM3 HSPB1 TMEM120A NSUN5P1 CCL24 LOC107986711 SPDYE16 RHBDD2 PMS2P3 STAG3L1 GTF2IP7
esv3613754	Chr.7:76045674 - 76060185 on Build GRCh38	Gain	MDH2 STYXL1
dgv120n16	Chr.7:75440769 - 76641919 on Build GRCh38	Deletion	MIR4651 HIP1 POM121C LOC105375355 SNORA14A SSC4D CCL26 POMZP3 STYXL1 POR FDPSP2 LOC100133091 DTX2 YWHAG MDH2 ZP3 SPDYE5 SRRM3 HSPB1 TMEM120A CCL24 LOC107986711 SPDYE16 RHBDD2 PMS2P3 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