Gene Gene information from NCBI Gene database.
Entrez ID 3419
Gene name Isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
Gene symbol IDH3A
Synonyms (NCBI Gene)
RP90
Chromosome 15
Chromosome location 15q25.1
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
SNPs SNP information provided by dbSNP.
2
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.
338
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 28098230
GO:0000287 Function Magnesium ion binding IEA
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity EXP 4336621, 14555658, 16737955, 17432878, 33349631
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity IBA
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity IDA 28098230
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601149 5384 ENSG00000166411
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Citrate cycle (TCA cycle)
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
  Citric acid cycle (TCA cycle)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Likely pathogenic rs767257701 RCV005934643
Retinitis pigmentosa 90 Pathogenic rs2074707744, rs2074682724, rs765473830, rs2074683444, rs770798851, rs2074705330 RCV001255143
RCV001255144
RCV001255145
RCV001255146
RCV001255147
RCV001255148
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IDH3A-related disorder Likely benign; Benign rs367628741, rs200728505, rs116374996, rs2304826, rs76789131, rs201474168, rs759517078, rs61752770, rs372950002 RCV003938743
RCV003965962
RCV003980421
RCV003921081
RCV003908834
RCV003978695
RCV003936842
RCV003940725
RCV003972976
Retinal dystrophy Uncertain significance rs199857658, rs1259883219 RCV004813985
RCV004815325
Retinitis pigmentosa Conflicting classifications of pathogenicity rs756712426, rs149862950 RCV001003050
RCV001003051
Thyroid cancer, nonmedullary, 1 Uncertain significance rs575301725 RCV005923896
Associations from Text MiningDisease associations identified through Pubtator
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