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 NAD... See more...

Aliases for IDH3B Gene

Aliases for IDH3B Gene

  • Isocitrate Dehydrogenase (NAD(+)) 3 Non-Catalytic Subunit Beta 2 3 5
  • Isocitrate Dehydrogenase [NAD] Subunit Beta, Mitochondrial 3 4
  • Isocitrate Dehydrogenase (NAD(+)) 3 Beta 2 3
  • Isocitrate Dehydrogenase 3 (NAD+) Beta 2 3
  • Isocitric Dehydrogenase Subunit Beta 3 4
  • NAD(+)-Specific ICDH Subunit Beta 3 4
  • RP46 2 3
  • Isocitrate Dehydrogenase 3 (NAD(+)) Beta 3
  • EC 1.1.1.41 50
  • EC 1.1.1 50
  • IDH3B 5

External Ids for IDH3B Gene

Previous GeneCards Identifiers for IDH3B Gene

  • GC20M002627
  • GC20M002634
  • GC20M002587
  • GC20M002639

Summaries for IDH3B Gene

Entrez Gene Summary for IDH3B 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 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]

GeneCards Summary for IDH3B Gene

IDH3B (Isocitrate Dehydrogenase (NAD(+)) 3 Non-Catalytic Subunit Beta) is a Protein Coding gene. Diseases associated with IDH3B include Retinitis Pigmentosa 46 and Retinitis Pigmentosa. Among its related pathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and NAD binding. An important paralog of this gene is IDH3G.

UniProtKB/Swiss-Prot Summary for IDH3B Gene

  • 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 and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.

Gene Wiki entry for IDH3B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IDH3B Gene

Genomics for IDH3B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IDH3B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IDH3B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IDH3B

Top Transcription factor binding sites by QIAGEN in the IDH3B gene promoter:
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • HEN1
  • MZF-1
  • Pax-6
  • S8
  • ZID

Genomic Locations for IDH3B Gene

Latest Assembly
chr20:2,658,394-2,664,219
(GRCh38/hg38)
Size:
5,826 bases
Orientation:
Minus strand

Previous Assembly
chr20:2,639,041-2,644,862
(GRCh37/hg19 by Entrez Gene)
Size:
5,822 bases
Orientation:
Minus strand

chr20:2,639,041-2,644,865
(GRCh37/hg19 by Ensembl)
Size:
5,825 bases
Orientation:
Minus strand

Genomic View for IDH3B Gene

Genes around IDH3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IDH3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IDH3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IDH3B Gene

Proteins for IDH3B Gene

  • Protein details for IDH3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43837-IDH3B_HUMAN
    Recommended name:
    Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial
    Protein Accession:
    O43837
    Secondary Accessions:
    • B2RDR1
    • D3DVX2
    • D3DVX3
    • O95106
    • Q5JXS8
    • Q9NQ06
    • Q9NQ07
    • Q9NUZ0
    • Q9UEX0
    • Q9UG99

    Protein attributes for IDH3B Gene

    Size:
    385 amino acids
    Molecular mass:
    42184 Da
    Quaternary structure:
    • Heterooligomer of subunits alpha (IDH3A), beta (IDH3B), and gamma (IDH3G) in the apparent ratio of 2:1:1. The heterodimer containing one IDH3A and one IDH3B subunit and the heterodimer containing one IDH3A and one IDH3G subunit assemble into a heterotetramer (which contains two subunits of IDH3A, one of IDH3B and one of IDH3G) and further into the heterooctamer.

    Three dimensional structures from OCA and Proteopedia for IDH3B Gene

    Alternative splice isoforms for IDH3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IDH3B Gene

Selected DME Specific Peptides for IDH3B Gene

O43837:
  • DGLFLQCC
  • GDGVGPE
  • TEGEYSSLEHE
  • TPMEYKGELASYDM
  • VMPNLYGNI
  • VTAVHKAN
  • RIAKFAF
  • VTAVHKANI
  • EHHLSEVQNMASEEKLEQVLSSMKENKVAIIGKI
  • GKVRTRD
  • LDLFANVVH
  • FPVTMLPGDGVGPELMHAVKEVFKAA
  • DNCCMQLV
  • VHKANIM
  • VMPNLYG

Post-translational modifications for IDH3B Gene

  • Ubiquitination at Lys199
  • Modification sites at PhosphoSitePlus

Domains & Families for IDH3B Gene

Gene Families for IDH3B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for IDH3B Gene

InterPro:
Blocks:
  • Isocitrate/isopropylmalate dehydrogenase

Suggested Antigen Peptide Sequences for IDH3B Gene

GenScript: Design optimal peptide antigens:
  • NAD(+)-specific ICDH subunit beta (IDH3B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43837

UniProtKB/Swiss-Prot:

IDH3B_HUMAN :
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
Family:
  • Belongs to the isocitrate and isopropylmalate dehydrogenases family.
genes like me logo Genes that share domains with IDH3B: view

Function for IDH3B Gene

Molecular function for IDH3B Gene

UniProtKB/Swiss-Prot 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 and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.
UniProtKB/Swiss-Prot EnzymeRegulation:
The heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits can be allosterically activated by citrate (CIT) or/and ADP, and the two activators can act independently or synergistically. The heterodimer composed of IDH3A and IDH3B subunits cannot be allosterically regulated and the allosteric regulation of the heterotetramer is through the IDH3G subunit and not the IDH3B subunit. The IDH3G subunit contains the allosteric site which consists of a CIT-binding site and an ADP-binding site, and the binding of CIT and ADP causes conformational changes at the allosteric site which are transmitted to the active site in the catalytic subunit (IDH3A) through a cascade of conformational changes at the heterodimer interface, leading to stabilization of the isocitrate-binding at the active site and thus activation of the enzyme. ATP can activate the heterotetramer and the heterodimer composed of IDH3A and IDH3G subunits at low concentrations but inhibits their activities at high concentrations, whereas ATP exhibits only inhibitory effect on the heterodimer composed of IDH3A and IDH3B subunits.
GENATLAS Biochemistry:
isocitrate dehydrogenase 3,beta subunit,NADH dependent,mitochondrial matrix,third step of citric acid cycle

Enzyme Numbers (IUBMB) for IDH3B Gene

Phenotypes From GWAS Catalog for IDH3B Gene

Gene Ontology (GO) - Molecular Function for IDH3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004449 isocitrate dehydrogenase (NAD+) activity IEA,IBA 21873635
GO:0005515 protein binding IPI --
GO:0009055 electron transfer activity TAS 10601238
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with IDH3B: view
genes like me logo Genes that share phenotypes with IDH3B: view

Human Phenotype Ontology for IDH3B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH3B

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for IDH3B Gene

Localization for IDH3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for IDH3B Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IDH3B gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IDH3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with IDH3B: view

Pathways & Interactions for IDH3B Gene

genes like me logo Genes that share pathways with IDH3B: view

Gene Ontology (GO) - Biological Process for IDH3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle IEA,TAS --
GO:0006102 isocitrate metabolic process IBA 21873635
GO:0006103 2-oxoglutarate metabolic process IEA --
GO:0006734 NADH metabolic process IEA --
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with IDH3B: view

No data available for SIGNOR curated interactions for IDH3B Gene

Drugs & Compounds for IDH3B Gene

(7) Drugs for IDH3B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 65
Isocitric acid Experimental Pharma 0

(1) Additional Compounds for IDH3B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with IDH3B: view

Transcripts for IDH3B Gene

mRNA/cDNA for IDH3B Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IDH3B

Alternative Splicing Database (ASD) splice patterns (SP) for IDH3B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^
SP1: - - -
SP2: - - - - -
SP3: - -
SP4: - - - - -
SP5: - - - -
SP6: -
SP7: -
SP8: -
SP9: -
SP10: - - -
SP11: -
SP12: -
SP13: -

ExUns: 13a · 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for IDH3B Gene

GeneLoc Exon Structure for
IDH3B

Expression for IDH3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IDH3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IDH3B Gene

This gene is overexpressed in Brain (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IDH3B Gene



Protein tissue co-expression partners for IDH3B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IDH3B

SOURCE GeneReport for Unigene cluster for IDH3B Gene:

Hs.436405

Evidence on tissue expression from TISSUES for IDH3B Gene

  • Nervous system(4.7)
  • Heart(4.6)
  • Lung(4.6)
  • Liver(3.5)
  • Skin(3.4)
  • Muscle(3.1)
  • Eye(3)
  • Blood(3)
  • Intestine(2.9)
  • Kidney(2.6)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IDH3B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with IDH3B: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IDH3B Gene

Orthologs for IDH3B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IDH3B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IDH3B 29 30
  • 99.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 96 (a)
OneToMany
IDH3B 29
  • 92.01 (n)
-- 30
  • 74 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia IDH3B 29 30
  • 92.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 91 (a)
OneToMany
-- 30
  • 74 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Idh3B 29
  • 90.02 (n)
Mouse
(Mus musculus)
Mammalia Idh3b 29 16 30
  • 88.34 (n)
OneToOne
Chicken
(Gallus gallus)
Aves IDH3B 29 30
  • 78.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IDH3B 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia idh3b 29
  • 76.79 (n)
Str.8848 29
Zebrafish
(Danio rerio)
Actinopterygii idh3b 29 30
  • 74.88 (n)
OneToOne
Dr.12046 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG6439 29 30 31
  • 64.3 (n)
OneToOne
CG5028 31
  • 43 (a)
CG3483 31
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007786 29
  • 61.13 (n)
Worm
(Caenorhabditis elegans)
Secernentea idhb-1 29 30
  • 60.55 (n)
OneToOne
C37E2.1 31
  • 60 (a)
F35G12.2 31
  • 47 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL223W 29
  • 56.16 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04103g 29
  • 54.65 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDH1 29 30
  • 51.81 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons IDH2 29
  • 56.91 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0479200 29
  • 55.04 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7868 30
  • 61 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU00775 29
  • 55.59 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes idh1 29
  • 52.69 (n)
Species where no ortholog for IDH3B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for IDH3B Gene

ENSEMBL:
Gene Tree for IDH3B (if available)
TreeFam:
Gene Tree for IDH3B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IDH3B: view image
Alliance of Genome Resources:
Additional Orthologs for IDH3B

Paralogs for IDH3B Gene

Paralogs for IDH3B Gene

(2) SIMAP similar genes for IDH3B Gene using alignment to 2 proteins:

  • IDH3B_HUMAN
  • L0R875_HUMAN
genes like me logo Genes that share paralogs with IDH3B: view

Variants for IDH3B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IDH3B Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1000872 Uncertain Significance: not provided 2,663,680(-) C/T
NM_006899.5(IDH3B):c.196G>A (p.Ala66Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002161 Uncertain Significance: not provided 2,660,319(-) C/T
NM_006899.5(IDH3B):c.712G>A (p.Glu238Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1006922 Uncertain Significance: not provided 2,658,828(-) G/A
NM_006899.5(IDH3B):c.1081C>T (p.Arg361Ter)
NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1007731 Uncertain Significance: not provided 2,660,536(-) G/A
NM_006899.5(IDH3B):c.586C>T (p.Arg196Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1010912 Uncertain Significance: not provided 2,660,803(-) A/G
NM_006899.5(IDH3B):c.425T>C (p.Val142Ala)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IDH3B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IDH3B Gene

Variant ID Type Subtype PubMed ID
esv1188410 CNV insertion 17803354
esv3644998 CNV gain 21293372
esv988063 CNV insertion 20482838
nsv1057464 CNV gain 25217958
nsv458852 CNV loss 19166990
nsv470535 CNV gain 18288195
nsv585266 CNV loss 21841781

Variation tolerance for IDH3B Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 24.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IDH3B Gene

Human Gene Mutation Database (HGMD)
IDH3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IDH3B
Leiden Open Variation Database (LOVD)
IDH3B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IDH3B Gene

Disorders for IDH3B Gene

MalaCards: The human disease database

(7) MalaCards diseases for IDH3B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search IDH3B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IDH3B_HUMAN
  • Retinitis pigmentosa 46 (RP46) [MIM:612572]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:18806796}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IDH3B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IDH3B: view

No data available for Genatlas for IDH3B Gene

Publications for IDH3B Gene

  1. Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. (PMID: 18806796) Hartong DT … Colman RF (Nature genetics 2008) 3 4 72
  2. Assignment of mitochondrial NAD(+)-specific isocitrate dehydrogenase beta subunit gene (IDH3B) to human chromosome band 20p13 by in situ hybridization and radiation hybrid mapping. (PMID: 10575215) Kim YO … Huh TL (Cytogenetics and cell genetics 1999) 2 3 22
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for IDH3B Gene

Sources for IDH3B Gene