IDH3G (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3421
Gene name Gene Name - the full gene name approved by the HGNC.
Isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IDH3G
Synonyms (NCBI Gene) Gene synonyms aliases
H-IDHG, RP99
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT044581 hsa-miR-320a CLASH 23622248
MIRT2246020 hsa-miR-4514 CLIP-seq
MIRT2246021 hsa-miR-4692 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 28098230
GO:0000287 Function Magnesium ion binding IEA
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity ISS
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity TAS 9286695
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
300089 5386 ENSG00000067829
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID P51553
Protein name Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial (Isocitric dehydrogenase subunit gamma) (NAD(+)-specific ICDH subunit gamma)
Protein function Regulatory subunit which plays a role in the allosteric regulation of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterod
PDB 5GRE , 5GRF , 5GRH , 5GRI , 5GRL , 5YVT , 6L57 , 6L59 , 7CE3 , 8GRG , 8GRH , 8GS5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00180 Iso_dh 56 → 382 Isocitrate/isopropylmalate dehydrogenase Domain
Sequence
Sequence length 393
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa N/A N/A GenCC
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Diabetes Mellitus Associate 36187097
Retinitis Pigmentosa Associate 40119724
Retinitis Pigmentosa 2 Associate 40119724