Hs03641236_cn

• Gene Symbol: MDH2
• Assay Reference Genome Location: Chr.7:76066816 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 Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MDH2	NM_001282403.1	8	1439	NP_001269332.1
	NM_001282404.1	8	1396	NP_001269333.1
	NM_005918.3	9	1565	NP_005909.2
	AK095803.1	8	1330
	AK290779.1	9	1499
	AK293460.1	8	1297

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

More Information

• Set Membership: Intragenic, 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