IDH3B (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3420
Gene name Gene Name - the full gene name approved by the HGNC.
Isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IDH3B
Synonyms (NCBI Gene) Gene synonyms aliases
RP46
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP46
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
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.
Gene SNPs Other IDs Associated diseases
Show/Hide all(5)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT043662 hsa-miR-342-3p CLASH 23622248
MIRT040424 hsa-miR-615-3p CLASH 23622248
MIRT035766 hsa-miR-103a-2-5p CLASH 23622248
MIRT717080 hsa-miR-4709-5p HITS-CLIP 19536157
MIRT717081 hsa-miR-6884-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0004449 Function Isocitrate dehydrogenase (NAD+) activity IBA 21873635
GO:0005634 Component Nucleus HDA 21630459
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
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
604526 5385 ENSG00000101365
Protein
Gene SNPs Other IDs Associated diseases
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa, retinitis pigmentosa 46 GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (4)
Associations from Text Mining
Disease Name Relationship Type References
Immunoglobulin G4 Related Disease Associate 31736247
Neoplasm Metastasis Associate 23217164
Niemann Pick Disease Type C Associate 23217164
Retinitis Pigmentosa Associate 20011630, 40119724