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

2014-06-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
RP46
FUSION GENES

Other Information

Locus ID:

NCBI: 3420
MIM: 604526
HGNC: 5385
Ensembl: ENSG00000101365

Variants:

dbSNP: 3420
ClinVar: 3420
TCGA: ENSG00000101365
COSMIC: IDH3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101365ENST00000380843O43837
ENSG00000101365ENST00000380851O43837
ENSG00000101365ENST00000466494A0A0D9SG66
ENSG00000101365ENST00000474315A0A087WZN1
ENSG00000101365ENST00000477689A0A0D9SET9
ENSG00000101365ENST00000613370A0A087X2E5

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Citrate cycle (TCA cycle)KEGGhsa00020
Metabolic pathwaysKEGGhsa01100
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGhsa_M00010
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGM00010
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
188067962008Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.56
156536932005Regulation of mitochondrial NADP+-dependent isocitrate dehydrogenase activity by glutathionylation.52
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
167379552006Identification of Mn2+-binding aspartates from alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase.12
174328782007Role of alpha-Asp181, beta-Asp192, and gamma-Asp190 in the distinctive subunits of human NAD-specific isocitrate dehydrogenase.11
204358882010Each conserved active site tyr in the three subunits of human isocitrate dehydrogenase has a different function.6
194984312009Neuro-oncology: Isocitrate dehydrogenase mutations in low-grade gliomas.3
310536332019APC/C-CDH1-Regulated IDH3β Coordinates with the Cell Cycle to Promote Cell Proliferation.0

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53966/idh3b