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FLASH GENE

Symbol

IDH2

contributors: mct - updated : 15-10-2020

HGNC name	isocitrate dehydrogenase 2 (NADP+), mitochondrial
HGNC id	5383

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	D2HA2 D-2-hydroxyglutaric aciduria
Location	15q26.1      Physical location : 90.627.213 - 90.645.708
Synonym name	oxalosuccinate decarboxylase
	NADP(+)-specific ICDH
Synonym symbol(s)	ICD-M, IDH, IDHM, IDP, mNADP-IDH, IDPM, D2HGA2
EC.number	1.1.1.42

DNA

TYPE	functioning gene
STRUCTURE	18.50 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002168 11 - 1740 NP_002159 - 452 - 1996 8954790 NM_001290114 - - 1560 NP_001277043 - 322 - 1996 8954790 NM_001289910 - - 1578 NP_001276839 - 400 - 1996 8954790

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Reproductive female system uterus cervix   highly   male system prostate     highly Urinary kidney       highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

isocitrate and isopropylmalate dehydrogenases family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	isocitrate dehydrogenase 2, NADPH dependent, catalyzing the third step of citric acid cycle
	believed to control flux through the tricarboxylic acid cycle
	important physiological role for its allosteric activation during changes in environmental conditions
	increased IDH2-dependent carboxylation of glutamine-derived alpha-ketoglutarate in hypoxia is associated with a concomitant increased synthesis of 2-hydroxyglutarate (2HG) in cells with wild-type IDH1 and IDH2
	IDH1 and IDH2 mutation impairs histone demethylation and results in a block to cell differentiation
	IDH2 activities are a major factor in cancer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	may tightly associate or interact with the pyruvate dehydrogenase complex
	ability of SIRT3 to protect cells from oxidative stress was dependent on IDH2
	SIRT5-dependent mechanism that regulates cellular NADPH homeostasis and redox potential by promoting IDH2 desuccinylation and G6PD deglutarylation
	aberrant INTS3 splicing contributed to leukaemogenesis in concert with mutant IDH2 and was dependent on mutant SRSF2 binding to cis elements in INTS3 mRNA and increased DNA methylation of INTS3
	FZR1 ubiquitinates IDH2, a major NADPH-producing enzyme in mitochondria contributing to ROS increase in mitosis

cell & other

REGULATION

activated by

SIRT3 (activates IDH2, thereby increasing NADPH levels in mitochondria)

ASSOCIATED DISORDERS

corresponding disease(s)

D2HA2

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in acute myeloid leukemia and glioma tumoral somatic mutation       in chondrosarcoma tumoral somatic mutation       in giant cell tumor of bone

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism amino acids   inhibiting endogenous IDH1/2 activity could be a novel medication for D2HA patients

ANIMAL & CELL MODELS