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

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3418
Gene name Gene Name - the full gene name approved by the HGNC.
Isocitrate dehydrogenase (NADP(+)) 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IDH2
Synonyms (NCBI Gene) Gene synonyms aliases
D2HGA2, ICD-M, IDH, IDH-2, IDHM, IDP, IDPM, mNADP-IDH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
D2HGA2, IDP
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(8)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(142)
miRTarBase ID miRNA Experiments Reference
MIRT007339 hsa-miR-183-5p Immunocytochemistry, Luciferase reporter assay, qRT-PCR 23263745
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
MIRT710710 hsa-miR-1250-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(23)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
147650 5383 ENSG00000182054
Protein
Gene SNPs Other IDs Associated diseases
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 (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:22416140). {ECO:0000269|PubMed:19228619, ECO:
PDB 4JA8 , 5GIS , 5I95 , 5I96 , 5SVN , 5SVO , 6ADI , 6UJ7 , 6UJ8 , 6UJ9 , 6VFZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00180 Iso_dh 45 → 441 Isocitrate/isopropylmalate dehydrogenase Domain
Sequence
Sequence length 452
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease GenCC
Gout Gout GWAS
Show/Hide Text Mining Associations (150)
Associations from Text Mining
Disease Name Relationship Type References
2 Hydroxyglutaricaciduria Associate 21889589, 23561848
Acute Chest Syndrome Associate 39209956
Adenocarcinoma Associate 29769567, 32333643, 34265800
Adenocarcinoma of Lung Associate 32333643
Alpha ketoglutarate dehydrogenase deficiency Associate 35973199
Alternating hemiplegia of childhood Associate 31706351
Anemia Sickle Cell Associate 39209956
Angioedemas Hereditary Associate 35973199
Astrocytoma Associate 19554337, 19765000, 21631627, 22217666, 22922872, 23486687, 23918605, 24149775, 24344754, 24460285, 24810474, 25783747, 28042970, 28407731, 29016996
View all (13 more)
Ataxia Telangiectasia Associate 23687089