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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IDH3B Gene

protein-coding   GIFtS: 60
GCID: GC20M002639

isocitrate dehydrogenase 3 (NAD+) beta

 Explore 6 diseases affiliated with
IDH3B via our new
 Human Malady Compendium 
Biological research products
for IDH3B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Isocitrate Dehydrogenase 3 (NAD+) Beta1 2     Isocitrate Dehydrogenase [NAD] Subunit Beta, Mitochondrial2
RP461 2 5     Isocitrate Dehydrogenase, NAD(+)-Specific, Mitochondrial, Beta Subunit2
Isocitric Dehydrogenase Subunit Beta2 3     NAD+-Specific ICDH2
NAD(+)-Specific ICDH Subunit Beta2 3     NAD+-Specific Isocitrate Dehydrogenase B Subunit2
EC 1.1.1.413 8     NAD+-Specific Isocitrate Dehydrogenase Beta2
H-IDHB2     EC 1.1.18

External Ids:    HGNC: 53851   Entrez Gene: 34202   Ensembl: ENSG000001013657   OMIM: 6045265   UniProtKB: O438373   

Export aliases for IDH3B gene to outside databases

Previous GC identifers: GC20M002627 GC20M002634 GC20M002587


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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 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. Three alternatively spliced transcript variants encoding different
isoforms have been described for this gene. (provided by RefSeq, Jul 2008)

Gene Wiki entry for IDH3B


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IDH3B gene promoter:
         GR   GR-beta   Pax-6   AREB6   HEN1   MZF-1   S8   ZID   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIDH3B promoter sequence
   Search SABiosciences Chromatin IP Primers for IDH3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IDH3B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

IDH3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IDH3B gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M002639:  view genomic region     (about GC identifiers)

Start:
2,639,041 bp from pter      End:
2,644,865 bp from pter
Size:
5,825 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 (By similarity)
Subcellular location: Mitochondrion
Secondary accessions: B2RDR1 D3DVX2 D3DVX3 O95106 Q5JXS8 Q9NQ06 Q9NQ07 Q9NUZ0 Q9UEX0 Q9UG99
Alternative splicing: 3 isoforms:  O43837-1   O43837-2   O43837-3   

Explore the universe of human proteins at neXtProt for IDH3B: NX_O43837

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43837

  • 4/15 DME Specific Peptides for IDH3B (O43837) (see all 15)
     GDGVGPE  GKVRTRD  VHKANIM  VMPNLYG 

    IDH3B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001245313.1  NP_008830.2  NP_777280.1  

    ENSEMBL proteins: 
     ENSP00000370232   ENSP00000370223   ENSP00000410058  
    Reactome Protein details: O43837
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS10601238
    GO:0005759mitochondrial matrix TAS--


    IDH3B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    IDH3B for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR004434 Isocitrate_DH_NAD
     IPR001804 Isocitrate/isopropylmalate_DH
     IPR019818 IsoCit/isopropylmalate_DH_CS
     IPR024084 IsoPropMal-DH-like_dom

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837
    Catalytic activity: Isocitrate + NAD(+) = 2-oxoglutarate + CO(2) + NADH

         Genatlas biochemistry entry for IDH3B:
    isocitrate dehydrogenase 3,beta subunit,NADH dependent,mitochondrial matrix,third step of citric acid cycle

    Enzyme Numbers (IUBMB): EC 1.1.1.411 2 EC 1.1.12

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004449isocitrate dehydrogenase (NAD+) activity IEA--
    GO:0009055electron carrier activity TAS10601238
    GO:0051287NAD binding IEA--


    IDH3B for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCA Cycle
    TCA Cycle1.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    Citrate cycle (TCA cycle)0.65
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3TCA cycle II (eukaryotic)
    TCA cycle II (eukaryotic)1.00
    Citric acid cycle (TCA cycle)0.67
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for IDH3B 
        TCA Cycle
    TCA cycle II (eukaryotic)

    4        Reactome Pathways for IDH3B
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport


    2         Kegg Pathways  (Kegg details for IDH3B):
        Citrate cycle (TCA cycle)
    Metabolic pathways


    IDH3B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IDH3B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/47 Interacting proteins for IDH3B (O438372, 3 ENSP000003702234) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261285 I2D: score=2 
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=1 STRING: ENSP00000356278
    IDH3AP502133, ENSP000002995184I2D: score=8 STRING: ENSP00000299518
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006102isocitrate metabolic process IEA--
    GO:00061032-oxoglutarate metabolic process IEA--
    GO:0006734NADH metabolic process IEA--
    GO:0044281small molecule metabolic process TAS--


    IDH3B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for IDH3B

    7 HMDB Compounds for IDH3B    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Isocitric acid1-Hydroxy-1,2,3-propanetricarboxylate (see all 15)320-77-4--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--

    1 DrugBank Compound for IDH3B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--4292141 17139284 17016423 4380379 14189899

    Search CenterWatch for drugs/clinical trials and news about IDH3B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IDH3B gene (4 alternative transcripts): 
    NM_001258384.1  NM_006899.3  NM_174855.2  NM_174856.1  

    Unigene Cluster for IDH3B:

    Isocitrate dehydrogenase 3 (NAD+) beta
    Hs.436405  [show with all ESTs]
    Unigene Representative Sequence: BX647393
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466494 ENST00000492240 ENST00000469213 ENST00000488299 ENST00000474315
    ENST00000380851(uc002wgq.3) ENST00000380843(uc002wgp.3) ENST00000477689
    ENST00000466999 ENST00000479376 ENST00000462967 ENST00000491065(uc010zpz.1)
    ENST00000435594(uc002wgr.3)

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    Additional cDNA sequence: 

    AK300485.1 AK309488.1 AK315641.1 AL050094.1 BC001960.1 BC019037.2 BX647393.1 U87972.1 

    24/28 DOTS entries (see all 28):

    DT.40109134  DT.100806069  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):

    AI372963 CD514264 BM753004 BU683689 AA284682 CD653489 CA449253 CN485078 
    BQ053873 BM451605 BU956783 F37091 BG939965 AI890694 CB138909 F29067 
    BM465164 BM510099 CB217069 BE790732 BM743955 BM768201 BM970717 BQ877366 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for IDH3B (see all 13)    About this scheme

    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:            


    ECgene alternative splicing isoforms for IDH3B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IDH3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACCAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See IDH3B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IDH3B

    SOURCE GeneReport for Unigene cluster: Hs.436405
        SABiosciences Expression via Pathway-Focused PCR Arrays including IDH3B: 
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              Glucose Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for IDH3B gene from 11/37 species (see all 37)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Idh3b1 , 5 isocitrate dehydrogenase 3 (NAD+) beta1, 5 89.38(n)1
    93.99(a)1
      2 (63.20 cM)5
    1707181  NM_130884.41  NP_570954.11 
     1302793095 
    chicken
    (Gallus gallus)
    Aves IDH3B1 isocitrate dehydrogenase 3 (NAD+) beta 78.54(n)
    85.22(a)
      426573  NM_001031387.1  NP_001026558.1 
    lizard
    (Anolis carolinensis)
    Reptilia IDH3B6
    --
    83(a)
    1 ↔ 1
    GL343574.1(183716-197022)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX850675.12   -- 80.35(n)    BX850675.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.120462 Transcribed sequence with moderate similarity to protein more 78.23(n)    CA472002.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64391 , 3 isocitrate dehydrogenase (NAD+)3
    CG64391
    60(a)
    (best of 3)3
    61.99(n)1
    61.32(a)1
      93F133
    425861  NM_142743.21  NP_651000.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C37E2.13
    idhb-11
    isocitrate dehydrogenase3
    Protein IDHB-11
    60(a)
    (best of 2)3
    58.95(n)1
    61.71(a)1
      X(14206688-14208613)3
    1815281  NM_077961.41  NP_510362.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IDH11 Idh1p 50.61(n)
    46.2(a)
      855691   NP_014361.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IDH21 Isocitrate dehydrogenase [NAD] regulatory subunit 2 56.94(n)
    53.11(a)
      816218  NM_127267.2  NP_179304.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04792001 hypothetical protein 54.93(n)
    51.4(a)
      4336169  NM_001059628.1  NP_001053093.1 


    ENSEMBL Gene Tree for IDH3B (if available)
    TreeFam Gene Tree for IDH3B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IDH3B gene
    IDH3G2  
    2 SIMAP similar genes for IDH3B using alignment to 2 protein entries:     IDH3B_HUMAN (see all proteins):
    IDH3G    IDH3A

    IDH3B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/209 NCBI SNPs in IDH3B are shown (see all 209    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs61070901,2
    C,--2588237(+) TGTGCC/TGTGTT 2 -- nc-transcript-variantut310--------
    rs61070911,2
    H--2588316(+) AGGGCC/TTATGG 2 -- int1 ese34Minor allele frequency- T:0.00NS EA 404
    rs115427411,2
    H--2590655(-) GAGCAG/TACAGA 6 Q H mis1 ese36Minor allele frequency- T:0.00NS EA NA 410
    rs1158101461,2
    C,F,--2591066(+) TAATGT/CAGTTA 3 -- int11Minor allele frequency- C:0.02WA 118
    rs412755141,2
    --2591718(+) CAACAC/GAAAGA 3 -- int10--------
    rs585902221,2
    C,--2592198(+) AGAACG/ATTCTG 3 -- int13Minor allele frequency- A:0.05WA CSA 122
    rs60509861,2
    C,F,--2592705(+) accaaC/Tatggt 3 -- int13Minor allele frequency- T:0.50NA 6
    rs610538871,2
    --2593095(+) AAAAAA/GAAAAG 3 -- int10--------
    rs798460671,2
    F,--2593795(+) GAAAAG/TCCAGG 3 -- int11Minor allele frequency- T:0.50CSA 4
    rs622055701,2
    --2594184(+) TACCCC/TGACTT 3 -- us2k12Minor allele frequency- T:0.04NA 122

    HapMap Linkage Disequilibrium report for IDH3B (2639041 - 2644865 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IDH3B: --
    Human Gene Mutation Database (HGMD): IDH3B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IDH3B
    DNA2.0 Custom Variant and Variant Library Synthesis for IDH3B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    IDH3B for disorders           About GeneDecksing

    OMIM gene information: 604526    OMIM disorders: --

    UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837
  • Defects in IDH3B are the cause of retinitis pigmentosa type 46 (RP46) [MIM:612572]. RP is a retinal dystrophy
  • belonging to the group of pigmentary retinopathies. RP 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

    6 diseases for IDH3B:    About MalaCards
    retinitis pigmentosa-46    pigmentary retinopathy    retinitis pigmentosa    retinitis
    blindness    ataxia

    Human Genome Epidemiology (HuGE) Navigator: IDH3B (1 document)

    Export disorders for IDH3B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IDH3B gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with IDH3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10575215)1, 3, 9 Kim Y.O....Huh T.L. (1999)
    2. Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. (PubMed id 18806796)1, 2 Hartong D.T....Colman R.F. (2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. Identification and functional characterization of a novel, tissue- specific NAD+-dependent isocitrate dehydrogenase beta subunit isoform. (PubMed id 10601238)1, 2 Kim Y.-O.... Huh T.-L. (1999)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3420 HGNC: 5385 AceView: IDH3B Ensembl:ENSG00000101365 euGenes: HUgn3420
    ECgene: IDH3B Kegg: 3420 H-InvDB: IDH3B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IDH3B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IDH3B gene:
    Search GeneIP for patents involving IDH3B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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