• Gene id: 3420

Gene Summary

• Gene Symbol: IDH3B   Gene   UCSC   Ensembl
• Aliases: RP46
• Gene name: isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
• Alternate names: isocitrate dehydrogenase [NAD] subunit beta, mitochondrial, NAD(+)-specific ICDH subunit beta, isocitrate dehydrogenase (NAD(+)) 3 beta, isocitrate dehydrogenase 3 (NAD(+)) beta, isocitrate dehydrogenase 3 (NAD+) beta, isocitric dehydrogenase subunit beta,
• Gene location: 20p13 (2664222: 2658393)     Exons: 1     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 604526

Protein Summary

• Protein general information: O43837  
  • Name: Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial (Isocitric dehydrogenase subunit beta) (NAD(+) specific ICDH subunit beta)
  • Length: 385  
  • Mass: 42184
• Sequence:

  MAALSGVRWLTRALVSAGNPGAWRGLSTSAAAHAASRSQAEDVRVEGSFPVTMLPGDGVGPELMHAVKEVFKAAA
  VPVEFQEHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKIHTPMEYKGELASYDMRLRRKLDLFANVVHVKSLPG
  YMTRHNNLDLVIIREQTEGEYSSLEHESARGVIECLKIVTRAKSQRIAKFAFDYATKKGRGKVTAVHKANIMKLG
  DGLFLQCCEEVAELYPKIKFETMIIDNCCMQLVQNPYQFDVLVMPNLYGNIIDNLAAGLVGGAGVVPGESYSAEY
  AVFETGARHPFAQAVGRNIANPTAMLLSASNMLRHLNLEYHSSMIADAVKKVIKVGKVRTRDMGGYSTTTDFIKS
  VIGHLQTKGS

• Structural information:
  • Interpro: IPR019818  IPR004434  IPR024084  
  • Prosite: PS00470
  • PDB: 6KDE 6KDF 6KDY 6KE3
  • PDBsum: 6KDE 6KDF 6KDY 6KE3
  • STRING: ENSP00000370223
• Other Databases: GeneCards:  IDH3B  Malacards:  IDH3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006102	isocitrate metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0004449	isocitrate dehydrogenase (NAD+) activity	IBA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004449	isocitrate dehydrogenase (NAD+) activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004449	isocitrate dehydrogenase (NAD+) activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006102	isocitrate metabolic process	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0009055	electron transfer activity	TAS	molecular function
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00020	Citrate cycle
hsa01210	2-Oxocarboxylic acid metabolism

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray