IDH2 (isocitrate dehydrogenase (NADP(+)) 2)

Gene

• Entrez ID: 3418
• Gene name: Isocitrate dehydrogenase (NADP(+)) 2
• Gene symbol: IDH2
• Synonyms: D2HGA2, ICD-M, IDH, IDHM, IDP, IDPM, mNADP-IDH
• Chromosome: 15
• Chromosome location: 15q26.1
• Summary: Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913502	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913503	C>A,T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs142816010	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606870	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs767061831	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519736	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1057519906	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307936	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007339	hsa-miR-183-5p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR	23263745
MIRT029275	hsa-miR-26b-5p	Microarray	19088304
MIRT052706	hsa-miR-1260b	CLASH	23622248
MIRT710698	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT710699	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT710700	hsa-miR-498	HITS-CLIP	19536157
MIRT710701	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710702	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT710703	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710704	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710705	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710706	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT710707	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT710708	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT710709	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT710710	hsa-miR-1250-3p	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	ISS
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IBA	21873635
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IDA	23226729
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	ISS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005777	Component	Peroxisome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005975	Process	Carbohydrate metabolic process	NAS	8954790
GO:0006097	Process	Glyoxylate cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	TAS
GO:0006102	Process	Isocitrate metabolic process	IBA	21873635
GO:0006102	Process	Isocitrate metabolic process	ISS
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006739	Process	NADP metabolic process	IBA	21873635
GO:0006741	Process	NADP biosynthetic process	IEA
GO:0051287	Function	NAD binding	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1903976	Process	Negative regulation of glial cell migration	IEA
GO:1904465	Process	Negative regulation of matrix metallopeptidase secretion	IEA

Other IDs

• MIM: 147650
• HGNC: 5383
• e!Ensembl: ENSG00000182054

Protein

• UniProt ID: P48735
• Protein name: Isocitrate dehydrogenase [NADP], mitochondrial (IDH) (EC 1.1.1.42) (ICD-M) (IDP) (NADP(+)-specific ICDH) (Oxalosuccinate decarboxylase)
• Protein function: Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.
• PDB: 4JA8, 5GIS, 5I95, 5I96, 5SVN, 5SVO, 6ADI, 6VFZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00180	Iso_dh	45 → 441	Isocitrate/isopropylmalate dehydrogenase	Domain

• Sequence:

  MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYADKRIKVAKPVVEMDGDEMTR
  IIWQFIKEKLILPHVDIQLKYFDLGLPNRDQTDDQVTIDSALATQKYSVAVKCATITPDE
  ARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYK
  ATDFVADRAGTFKMVFTPKDGSGVKEWEVYNFPAGGVGMGMYNTDESISGFAHSCFQYAI
  QKKWPLYMSTKNTILKAYDGRFKDIFQEIFDKHYKTDFDKNKIWYEHRLIDDMVAQVLKS
  SGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLVCPDGKTIEAEAAHGTVTRHYREHQK
  GRPTSTNPIASIFAWTRGLEHRGKLDGNQDLIRFAQMLEKVCVETVESGAMTKDLAGCIH
  GLSNVKLNEHFLNTTDFLDTIKSNLDRALGRQ

• Sequence length: 452