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Aliases & Descriptions for IDH3B
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 1.1.1.41 3 FLJ11043 2 H-IDHB 2 MGC903 2 OTTHUMP00000030023 2 OTTHUMP00000030024 2 RP46 2 , 5
Descriptions Isocitric dehydrogenase 2 , 3 NAD(+)-specific ICDH 3 NAD+-specific ICDH 2 NAD+-specific isocitrate dehydrogenase b subunit 2 NAD+-specific isocitrate dehydrogenase beta 2 isocitrate dehydrogenase 3 (NAD+) beta 2 isocitrate dehydrogenase 3, beta subunit 2 isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit 2
Search outside databases for aliases for IDH3B genePrevious GC identifers: GC20M002627 GC20M002634
Summaries for IDH3B (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for IDH3B : 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 electronacceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: threeNAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and twoNADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the otherpredominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allostericallyregulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramerthat is composed of two alpha subunits, one beta subunit, and one gamma subunit. The proteinencoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitratedehydrogenase. Three alternatively spliced transcript variants encoding different isoforms havebeen described for this gene. [provided by RefSeq] Gene Wiki entry for IDH3B
Genomic Location for IDH3B
(According to
GeneLoc and/or
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the IDH3B gene Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC chromosome: 20 IDH3B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure
GeneLoc location for GC20M002587:
(about GC identifiers )
Start:
2,587,041 bp from pter
End:
2,592,843 bp from pter
Size:
5,803 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000020.9 NT_011387.8 Proteins for IDH3B
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
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Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
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Novus Biologicals )
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UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837 (See
protein sequence )Recommended Name: Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial precursor Size : 385 amino acids; 42184 Da
Cofactor : Binds 1 magnesium or manganese ion per subunit (By similarity)
Subunit : Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1 (Bysimilarity)
Subcellular location : Mitochondrion
Secondary accessions : O95106 Q5JXS8 Q9NQ06 Q9NQ07 Q9UEX0 Q9UG99Alternative splicing : 2 isoforms : O43837-1 O43837-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_008830.2 NP_777280.1 NP_777281.1 ENSEMBL proteins: ENSP00000343215 ENSP00000370223 ENSP00000370232 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for IDH3B: Assays for IDH3B:
Protein
Domains/ Families for IDH3B(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O43837 ProtoNet protein and cluster: O43837
1 Blocks protein family : IPB001804 Isocitrate/isopropylmalate dehydrogenase UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837 Similarity : Belongs to the isocitrate and isopropylmalate dehydrogenases family
Gene Function for IDH3B
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_006899 Applied Biosystems Silencer ® siRNAs for IDH3B Sigma-Aldrich siRNA for IDH3B Sigma-Aldrich shRNA for IDH3B Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_006899                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_006899                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_006899  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006899 UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837 Catalytic activity : Isocitrate + NAD(+) = 2-oxoglutarate + CO(2) + NADHEnzyme Number (IUBMB): EC 1.1.1.41
Genatlas biochemistry entry for IDH3B :isocitrate dehydrogenase 3,beta subunit,NADH dependent,mitochondrial matrix,third step of citricacid cycle 5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
GO ID Qualified GO term Evidence PubMed IDs GO:0000287 magnesium ion binding
IEA -- GO:0004449 isocitrate dehydrogenase (NAD+) activity
TAS 10601238 GO:0009055 electron carrier activity
TAS 10601238 GO:0016491 oxidoreductase activity
IEA -- GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
IEA --
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Pathways & Interactions for IDH3B
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
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KEGG
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Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for IDH3B (Your Favorite Gene powered by Ingenuity) 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for IDH3B (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
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Novoseek and Drugs according to
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PharmGKB )
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Browse Tocris compounds for IDH3B
Transcripts for IDH3B(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
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exon structure from GeneLoc ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_006899 Sigma-Aldrich siRNA for IDH3B Sigma-Aldrich shRNA for IDH3B Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_006899 NM_174855 NM_174856
REFSEQ mRNAs for IDH3B gene (3 alternative transcripts): NM_006899.2 NM_174855.1 NM_174856.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006899 NM_174855 NM_174856
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_006899                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_006899                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_006899  
Additional cDNA sequence: AK001905.1 AK300485.1 AK309488.1 AK315641.1 AL050094.1 BC001960.1 BC019037.2 BX647393.1 CR611698.1 CR614771.1 CR615180.1 CR615874.1 CR616056.1 CR618774.1 U87972.1
24/28 DOTS entries (see all 28
): DT.100806069 DT.40109134 DT.100877702 DT.95285118 DT.95370149 DT.449871 DT.92452736 DT.100877701 DT.97860645 DT.120797850 DT.120797673 DT.95144728 DT.120797750 DT.92452735 DT.120797617 DT.120797702 DT.120797834 DT.95187824 DT.120797848 DT.100877708 DT.120797829 DT.95370145 DT.120797638 DT.120797678
24/615 AceView cDNA sequences (see all 615
):BM837721 BU527242 CD514264 BM767626 AA812115 BU183474 BU687877 BM787861 AA775794 CB144089 CB138037 AI609203 BQ672338 CB158264 BU850158 BU931843 AA746315 AI890694 BG681653 AA554369 BQ929307 BM561496 BQ229720 BQ069660
highest scoring ESTs for IDH3B :AA306645 AA323082 AA522698 AK001905 AL036756 AU099626 AU117859 AU143386 AV696918 AW402589
Unigene Cluster for IDH3B: Isocitrate dehydrogenase 3 (NAD+) beta Hs.436405 [show with all ESTs ] Unigene Representative Sequence: NM_174856 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for IDH3B (see all 13
) 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 :     -       -   -               -                          
ExUns: 13a · 13b SP1 :     SP2 :     SP3 :     SP4 :     SP5 :    
About this scheme ECgene alternative splicing isoforms for IDH3B 3 Ensembl transcripts including schematic representations : ENST00000341825
ENST00000380843
ENST00000380851
Expression for IDH3B
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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IDH3B expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for IDH3B 1 / 2 / 3
9 probe-sets matching IDH3B gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AACCAAAAAASOURCE GeneReport for Unigene cluster: Hs.436405 Expression variation in blood from EXPOLDB for IDH3B
Orthologs for IDH3B
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
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Orthologs for IDH3B gene from 5/21 species (see all 21
)
About this table Species with no ortholog for IDH3B ENSEMBL Gene Tree for IDH3B Paralogs for IDH3B (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for IDH3B gene IDH3G 2 IDH3A 2
SNPs/Variants for IDH3B (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for IDH3B (up to first 250kb)
Disorders & Mutations for IDH3B
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604526 UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837
Defects in IDH3B are the cause of retinitis pigmentosa type 46 (RP46) [MIM:612572]. RP isa retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized byretinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cellsfollowed by secondary loss of cone photoreceptors. Patients typically have night vision blindnessand loss of midperipheral visual field. As their condition progresses, they lose their farperipheral visual field and eventually central vision as well
Human Gene Mutation Database : IDH3B
Medical News for IDH3B (Possibly Related Articles in
Doctor's Guide )
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--
Publications for IDH3B (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/15 PubMed articles for IDH3B gene (see all 15
): Assignment of mitochondrial NAD(+)-specific isocitrate dehydrogenase beta subunit gene (IDH3B) to human chromosome band 20p13 by in situ hybridization and radiation hybrid mapping. (PubMed id 10575215) 1, 2, 3 Kim Y.O....Huh T.L. (1999) Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. (PubMed id 18806796) 3, 4 Hartong D.T....Colman R.F. (2008) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052) 3, 4 Deloukas P....Rogers J. (2001) Role of alpha-Asp181, beta-Asp192, and gamma-Asp190 in the distinctive subunits of human NAD-specific isocitrate dehydrogenase. (PubMed id 17432878) 3 Bzymek K.P. and Colman R.F. (2007) The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005) 4 Bechtel S....Schupp I. (2007) Identification of Mn2+-binding aspartates from alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase. (PubMed id 16737955) 3 Soundar S....Colman R.F. (2006) A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569) 3 Lim J....Zoghbi H.Y. (2006) Regulation of mitochondrial NADP+-dependent isocitrate dehydrogenase activity by glutathionylation. (PubMed id 15653693) 3 Kil I.S. and Park J.W. (2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3 Ota T....Sugano S. (2004)
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Genome Databases showing IDH3B
(According to
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euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing IDH3B
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Specialized Databases showing IDH3B (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for IDH3B (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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