Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3420 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
IDH3B |
SynonymsGene synonyms aliases
|
RP46 |
ChromosomeChromosome number
|
20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20p13 |
SummarySummary 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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs137853020 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs191680997 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Intron variant |
rs747812567 |
G>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs776399707 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, synonymous variant |
rs1600169350 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O43837 |
Protein name |
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial (Isocitric dehydrogenase subunit beta) (NAD(+)-specific ICDH subunit beta) |
Protein function |
Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits an |
PDB |
6KDE
,
6KDF
,
6KDY
,
6KE3
,
7CE3
,
8GRB
,
8GRD
,
8GRU
,
8GS5
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00180 |
Iso_dh |
50 → 376 |
Isocitrate/isopropylmalate dehydrogenase |
Domain |
|
Sequence |
|
Sequence length |
385 |
Interactions |
View interactions |