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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ovarian serous cystadenocarcinoma Likely pathogenic rs767257701 RCV005934643
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 90 Pathogenic rs2074707744, rs2074682724, rs765473830, rs2074683444, rs770798851, rs2074705330 RCV001255143
RCV001255144
RCV001255145
RCV001255146
RCV001255147
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
IDH3A-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Retinal dystrophy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31355526
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 26782057
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 29486777 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis CTD_human_DG 18784066
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus HPO_DG
★☆☆☆☆
Found in Text Mining only
Encephalopathies Epileptic encephalopathy BEFREE 28058510
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma HPO_DG
★☆☆☆☆
Found in Text Mining only