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

Homo sapiens

Also known as RP46

Gene ID: 3420 | Gene type: protein coding

About IDH3B

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:2,658,395-2,664,216 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 34.2), kidney (RPKM 31.3) and 25 other tissues.

Summary

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 have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]

IDH3B Products(4)

mRNA	Protein	Name
NM_001258384.3	NP_001245313.1	isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform d precursor
NM_001330763.2	NP_001317692.1	isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform e precursor
NM_006899.5	NP_008830.2	isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform a precursor
NM_174855.4	NP_777280.1	isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform b precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31515270	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in tricarboxylic acid cycle	IDA IDA: Inferred from direct assay	14555658	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of isocitrate dehydrogenase complex (NAD+)	IDA IDA: Inferred from direct assay	14555658	GOA
part of isocitrate dehydrogenase complex (NAD+)	IPI IPI: Inferred from physical interaction	14555658	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IDH3B Protein Structure

Iso_dh

0
100
200
300
385 a.a.

Protein Preferred Names

Protein Names

isocitrate dehydrogenase [NAD] subunit beta, mitochondrial

NAD(+)-specific ICDH subunit beta

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 46

RP46	Retinitis Pigmentosa, Autosomal Recessive, Idh3b-Related
Retinitis Pigmentosa Autosomal Recessive Idh3b-Related	Retinitis Pigmentosa, Type 46

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Juxtacortical Chondroma

Periosteal Chondroma

Fibroosseous Pseudotumor Of Digits

Fibroosseous Digital Pseudotumor

Fibroosseous Pseudotumor Of The Digits

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria	D2HGA1
D-2-Hga	D-2-Hydroxyglutaric Acidemia
D2ha	D2hga
Aciduria, D-2-Hydroxyglutaric, Type 1	Combined D-2- And L-2-Hydroxyglutaric Aciduria

2-Hydroxyglutaric Aciduria

2-Hga	2-Hydroxyglutaric Acidemia
2-Hydroxyglutaricaciduria	Combined D-2- And L-2-Hydroxyglutaric Aciduria

Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome	Chondrodysplasia With Hemangioma
Chondroplasia Angiomatosis	Enchondromatosis With Hemangiomata
Hemangiomatosis Chondrodystrophica	Kast Syndrome
Multiple Angiomas And Endochondromas	Dyschondrodysplasia With Hemangiomas
Enchondromatosis Type Ii	Enchondromatosis With Multiple Cavernous Hemangiomas
Dyschondroplasia And Cavernous Hemangioma	Hemangiomata With Dyschondroplasia

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06534	IDH3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	IDH3B	RGD	RGD:621881
Felis catus	IDH3B	VGNC	VGNC:80120
Mus musculus	IDH3B	MGD	MGI:2158650
Macaca mulatta	IDH3B	VGNC	VGNC:84532

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