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

Also Known as RP46

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3420

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
31515270 GOA
Biological Process GO Annotation Evidence References Source
involved in tricarboxylic acid cycle IDA
IDA: Inferred from direct assay
14555658 GOA
Cellular Component GO Annotation Evidence References 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

Iso_dh: Isocitrate/isopropylmalate dehydrogenase (51 - 375)

  • 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

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 Set / 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
Others IDH3B NCBI