• Gene id: 3418

Gene Summary

• Gene Symbol: IDH2   Gene   UCSC   Ensembl
• Aliases: D2HGA2, ICD-M, IDH, IDHM, IDP, IDPM, mNADP-IDH
• Gene name: isocitrate dehydrogenase (NADP(+)) 2
• Alternate names: isocitrate dehydrogenase [NADP], mitochondrial, NADP(+)-specific ICDH, isocitrate dehydrogenase (NADP(+)) 2, mitochondrial, isocitrate dehydrogenase 2 (NADP+), mitochondrial, oxalosuccinate decarboxylase,
• Gene location: 15q26.1 (90102467: 90083044)     Exons: 12     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 147650

Protein Summary

• Protein general information: P48735  
  • Name: Isocitrate dehydrogenase [NADP], mitochondrial (IDH) (EC 1.1.1.42) (ICD M) (IDP) (NADP(+) specific ICDH) (Oxalosuccinate decarboxylase)
  • Length: 452  
  • Mass: 50909
• Sequence:

  MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYADKRIKVAKPVVEMDGDEMTRIIWQFIKEKLILPHV
  DIQLKYFDLGLPNRDQTDDQVTIDSALATQKYSVAVKCATITPDEARVEEFKLKKMWKSPNGTIRNILGGTVFRE
  PIICKNIPRLVPGWTKPITIGRHAHGDQYKATDFVADRAGTFKMVFTPKDGSGVKEWEVYNFPAGGVGMGMYNTD
  ESISGFAHSCFQYAIQKKWPLYMSTKNTILKAYDGRFKDIFQEIFDKHYKTDFDKNKIWYEHRLIDDMVAQVLKS
  SGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLVCPDGKTIEAEAAHGTVTRHYREHQKGRPTSTNPIASIFAW
  TRGLEHRGKLDGNQDLIRFAQMLEKVCVETVESGAMTKDLAGCIHGLSNVKLNEHFLNTTDFLDTIKSNLDRALG
  RQ

• Structural information:
  • Interpro: IPR019818  IPR004790  IPR024084  
  • Prosite: PS00470
  • PDB: 4JA8 5GIS 5I95 5I96 5SVN 5SVO 6ADI
  • PDBsum: 4JA8 5GIS 5I95 5I96 5SVN 5SVO 6ADI
  • DIP: 61416
  • STRING: ENSP00000331897
• Other Databases: GeneCards:  IDH2  Malacards:  IDH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0006739	NADP metabolic process	IBA	biological process
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IBA	molecular function
GO:0006102	isocitrate metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006103	2-oxoglutarate metabolic process	ISS	biological process
GO:0004450	isocitrate dehydrogenase (NADP+) activity	ISS	molecular function
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0006102	isocitrate metabolic process	ISS	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006102	isocitrate metabolic process	IEA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006097	glyoxylate cycle	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005975	carbohydrate metabolic process	NAS	biological process
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:1903976	negative regulation of glial cell migration	IEA	biological process
GO:0060253	negative regulation of glial cell proliferation	IEA	biological process
GO:0006741	NADP biosynthetic process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:1904465	negative regulation of matrix metallopeptidase secretion	IEA	biological process
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0004450	isocitrate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0004448	isocitrate dehydrogenase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04146	Peroxisome
hsa01230	Biosynthesis of amino acids
hsa00480	Glutathione metabolism
hsa00020	Citrate cycle
hsa01210	2-Oxocarboxylic acid metabolism

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Peripheral T cell lymphoma	KEGG:H01892
D-2-hydroxyglutaric aciduria	KEGG:H01225
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
Peripheral T cell lymphoma	KEGG:H01892
D-2-hydroxyglutaric aciduria	KEGG:H01225
intrahepatic cholangiocarcinoma	PMID:22824796
hepatocellular clear cell carcinoma	PMID:25355558
hepatocellular carcinoma	PMID:24716838
acute myeloid leukemia	PMID:20368543
acute myeloid leukemia	PMID:25324972
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)