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Aliases for IDH3B Gene

Aliases for IDH3B Gene

  • Isocitrate Dehydrogenase 3 (NAD(+)) Beta 2 3 5
  • Isocitrate Dehydrogenase 3 (NAD+) Beta 2 3
  • Isocitric Dehydrogenase Subunit Beta 3 4
  • NAD(+)-Specific ICDH Subunit Beta 3 4
  • Isocitrate Dehydrogenase [NAD] Subunit Beta, Mitochondrial 3
  • RP46 3

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 3 (NAD(+)) Beta) is a Protein Coding gene. Diseases associated with IDH3B include Retinitis Pigmentosa 46 and Retinitis Pigmentosa. Among its related pathways are 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 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

Additional gene information for IDH3B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IDH3B Gene

Genomics for IDH3B Gene

GeneHancer (GH) Regulatory Elements for IDH3B Gene

Promoters and enhancers for IDH3B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J002663 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 656.9 +0.1 85 1.9 PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B IDH3B ENSG00000228293 RN7SL555P ZNF343 NOP56 SNORD57 GC20P002902
GH20J002651 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.6 +11.0 11014 4.2 HDGF SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B NOP56 GC20P002890 GC20P002893 GC20P002898 GC20P002900 MIR1292 GC20M002651 PIR58104 SNORA51 SNORD110
GH20J003156 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.9 -494.3 -494323 4.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 UBOX5 FASTKD5 ENSG00000229539 RN7SL555P ZNF343 VPS16 UBOX5-AS1 IDH3B ITPA SNRPB
GH20J002507 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.3 +155.4 155449 2.6 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF766 ZNF343 ENSG00000256566 SNRPB TMC2 SNORD56 SNORD57 NOP56 ENSG00000228293 IDH3B GC20M002474
GH20J002658 Enhancer 0.8 ENCODE 15.7 +5.3 5279 0.2 INSM2 KLF17 SIN3A KLF14 ZNF335 POLR2B GLIS2 E2F8 PRPF4 BCLAF1 IDH3B UBOX5-AS1 NOP56 SNORD57 GC20P002902
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for IDH3B Gene

Genomic Locations for IDH3B Gene
chr20:2,658,394-2,664,219
(GRCh38/hg38)
Size:
5,826 bases
Orientation:
Minus strand
chr20:2,639,041-2,644,865
(GRCh37/hg19)
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.

    Alternative splice isoforms for IDH3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IDH3B Gene

Post-translational modifications for IDH3B Gene

  • Ubiquitination at Lys199
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IDH3B Gene

Domains & Families for IDH3B Gene

Gene Families for IDH3B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for IDH3B Gene

GenScript: Design optimal peptide antigens:

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

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 --
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 --
GO:0051287 NAD binding 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , 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 5
cytosol 2

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 IDA,IEA --
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 TAS,IEA --
GO:0006102 isocitrate metabolic process TAS 10601238
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 Nutra 0
Manganese Approved Nutra 37
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(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with IDH3B: view

Transcripts for IDH3B Gene

Unigene Clusters for IDH3B Gene

Isocitrate dehydrogenase 3 (NAD+) beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • 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
ECgene alternative splicing isoforms for
IDH3B

Expression for IDH3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of IDH3B Gene:

IDH3B

SOURCE GeneReport for Unigene cluster for IDH3B Gene:

Hs.436405

Evidence on tissue expression from TISSUES for IDH3B Gene

  • Heart(4.6)
  • Lung(4.6)
  • Nervous system(4.6)
  • Liver(3.1)
  • Skin(2.8)
  • Muscle(2.7)
  • Intestine(2.5)
  • Blood(2.3)
  • Eye(2.3)
  • Kidney(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

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 34 33
  • 99.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
IDH3B 33
  • 92.01 (n)
-- 34
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia IDH3B 34 33
  • 92.19 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Idh3B 33
  • 90.02 (n)
mouse
(Mus musculus)
Mammalia Idh3b 16 34 33
  • 88.34 (n)
chicken
(Gallus gallus)
Aves IDH3B 34 33
  • 78.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IDH3B 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia idh3b 33
  • 76.79 (n)
Str.8848 33
zebrafish
(Danio rerio)
Actinopterygii idh3b 34 33
  • 74.88 (n)
OneToOne
Dr.12046 33
fruit fly
(Drosophila melanogaster)
Insecta CG6439 34 35 33
  • 64.3 (n)
OneToOne
CG5028 35
  • 43 (a)
CG3483 35
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007786 33
  • 61.13 (n)
worm
(Caenorhabditis elegans)
Secernentea idhb-1 34 33
  • 60.55 (n)
OneToOne
C37E2.1 35
  • 60 (a)
F35G12.2 35
  • 47 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL223W 33
  • 56.16 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04103g 33
  • 54.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IDH1 34 33
  • 51.81 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IDH2 33
  • 56.91 (n)
rice
(Oryza sativa)
Liliopsida Os04g0479200 33
  • 55.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7868 34
  • 61 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00775 33
  • 55.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes idh1 33
  • 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 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

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 from dbSNP and Humsavar for IDH3B Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs137853020 pathogenic, Retinitis pigmentosa 46, Retinitis pigmentosa 46 (RP46) [MIM:612572] 2,660,912(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs139159095 uncertain-significance, Retinitis Pigmentosa, Recessive 2,663,531(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs140155681 uncertain-significance, Retinitis Pigmentosa, Recessive 2,658,498(-) A/G 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs143110856 uncertain-significance, Retinitis Pigmentosa, Recessive 2,660,347(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs145651330 uncertain-significance, Retinitis Pigmentosa, Recessive 2,658,827(-) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for IDH3B Gene

MalaCards: The human disease database

(3) MalaCards diseases for IDH3B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 46
  • rp46
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 28
  • rp28
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for IDH3B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IDH3B: view

No data available for Genatlas for IDH3B Gene

Publications for IDH3B Gene

  1. 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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. 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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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 58

Products for IDH3B Gene

Sources for IDH3B Gene

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