Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3419
Gene name Gene Name - the full gene name approved by the HGNC.
Isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IDH3A
Synonyms (NCBI Gene) Gene synonyms aliases
RP90
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP90
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
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.
SNP ID Visualize variation Clinical significance Consequence
rs149862950 T>C Pathogenic Missense variant, coding sequence variant
rs756712426 C>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031744 hsa-miR-16-5p Proteomics 18668040
MIRT459786 hsa-miR-3154 PAR-CLIP 23592263
MIRT459784 hsa-miR-4524b-3p PAR-CLIP 23592263
MIRT459783 hsa-miR-3125 PAR-CLIP 23592263
MIRT459782 hsa-miR-3916 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 28098230
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity IBA 21873635
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity IDA 28098230
GO:0005515 Function Protein binding IPI 14555658, 28098230, 28514442
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601149 5384 ENSG00000166411
Protein
UniProt ID P50213
Protein name Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial (EC 1.1.1.41) (Isocitric dehydrogenase subunit alpha) (NAD(+)-specific ICDH subunit alpha)
Protein function Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma
PDB 5GRE , 5GRF , 5GRH , 5GRI , 5GRL , 5YVT , 6KDE , 6KDF , 6KDY , 6KE3 , 6L57 , 6L59 , 7CE3 , 8GRB , 8GRD , 8GRG , 8GRH , 8GRU , 8GS5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00180 Iso_dh 33 358 Isocitrate/isopropylmalate dehydrogenase Domain
Sequence
Sequence length 366
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa 90, retinitis pigmentosa GenCC
Osteoporosis Osteoporosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 29486777, 31355526
Carcinoma Squamous Cell Associate 29486777
Glaucoma Open Angle Associate 29847670
Hereditary macular coloboma Associate 28412069
Keshan disease Associate 29321553
Leber Congenital Amaurosis Associate 40244231
Leukemia Myeloid Acute Associate 35463978
Macular Degeneration Associate 28412069, 40244231
Mitochondrial encephalopathy Associate 40244231
Neoplasms Associate 31355526