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IDH3B Gene

protein-coding   GIFtS: 65
GCID: GC20M002639

Isocitrate Dehydrogenase 3 (NAD+) Beta

  See IDH3B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Isocitrate Dehydrogenase 3 (NAD+) Beta1 2     Isocitrate Dehydrogenase [NAD] Subunit Beta, Mitochondrial2
Isocitric Dehydrogenase Subunit Beta2 3     Isocitrate Dehydrogenase, NAD(+)-Specific, Mitochondrial, Beta Subunit2
NAD(+)-Specific ICDH Subunit Beta2 3     NAD+-Specific ICDH2
EC 1.1.1.413 8     NAD+-Specific Isocitrate Dehydrogenase B Subunit2
RP462 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Three alternatively spliced
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq, Jul 2008)

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 idh3b-related retinitis pigmentosa. GO annotations related to this gene include NAD binding and magnesium ion binding. An important paralog of this gene is IDH3G.

Gene Wiki entry for IDH3B Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for IDH3B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 (By similarity)
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

Explore proteomics data for IDH3B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys199
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for IDH3B (O43837) (see all 15)
     GDGVGPE  GKVRTRD  VHKANIM  VMPNLYG 


    See IDH3B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000370232   ENSP00000370223  
    Reactome Protein details: O43837

    IDH3B Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     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 domain: IPB001804 Isocitrate/isopropylmalate dehydrogenase

    UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837
    Similarity: Belongs to the isocitrate and isopropylmalate dehydrogenases family


    Find genes that share domains with IDH3B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    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:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0051287NAD binding IEA--
         
    Find genes that share ontologies with IDH3B           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IDH3B
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    miRNA
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    miRTarBase miRNAs that target IDH3B:
    hsa-mir-342-3p (MIRT043662), hsa-mir-615-3p (MIRT040424), hsa-mir-103a-2-5p (MIRT035766)

    Block miRNA regulation of human, mouse, rat IDH3B using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate IDH3B:
    hsa-miR-3175 hsa-miR-3179
    SwitchGear 3'UTR luciferase reporter plasmidIDH3B 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IDH3B_HUMAN, O43837: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with IDH3B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for IDH3B About    
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    Citrate cycle (TCA cycle)0.55
    TCA Cycle0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    2-Oxocarboxylic acid metabolism0.00
    Biosynthesis of amino acids0.38
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71


    Find genes that share SuperPaths with IDH3B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for IDH3B
        TCA Cycle


    1 Reactome Pathway for IDH3B
        Citric acid cycle (TCA cycle)


    5 Kegg Pathways  (Kegg details for IDH3B):
        Citrate cycle (TCA cycle)
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism
    Biosynthesis of amino acids

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IDH3B: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for IDH3B

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

    Selected Interacting proteins for IDH3B (O438372, 3 ENSP000003702234) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    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): Selected biological process terms (see all 7):    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:0044237cellular metabolic process TAS--

    Find genes that share ontologies with IDH3B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466494 ENST00000492240 ENST00000488299 ENST00000474315 ENST00000380851(uc002wgq.3)
    ENST00000380843(uc002wgp.3) ENST00000477689 ENST00000466999 ENST00000479376
    ENST00000462967 ENST00000491065(uc010zpz.1)
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate IDH3B:
    hsa-miR-3175 hsa-miR-3179
    SwitchGear 3'UTR luciferase reporter plasmidIDH3B 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IDH3B
      QuantiTect SYBR Green Assays in human, mouse, rat IDH3B
      QuantiFast Probe-based Assays in human, mouse, rat IDH3B

    Additional mRNA sequence: 

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

    Selected DOTS entries (see all 28):

    DT.40109134  DT.100806069  DT.100877702  DT.95285118  DT.95370149  DT.449871  DT.100877701  DT.92452736 
    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 

    Selected AceView cDNA sequences (see all 615):

    CB112155 BU171760 BX119223 AI928276 BU183474 AW954115 AI890694 AA858437 
    AI383861 BG681653 BQ058982 BU150824 CR614771 BM999950 CD675236 BC019037 
    BM558953 AI539751 BM467660 AA385128 CB138911 AA236723 BU184406 BM757228 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IDH3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCAAAAAA
    IDH3B Expression
    About this image


    IDH3B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Medulla Oblongata
     
     Colon (Gastrointestinal Tract)
     
     Peripheral Nervous System (Nervous System)
     
     Kidney (Urinary System)
    IDH3B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IDH3B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436405
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IDH3B: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
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    OriGene qSTAR qPCR primer pairs in human, mouse for IDH3B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDH3B

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IDH3B gene from Selected species (see all 23)    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 88.34(n)1
    92.43(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 78.51(n)
    85(a)
      426573  NM_001031387.1  NP_001026558.1 
    lizard
    (Anolis carolinensis)
    Reptilia IDH3B6
    isocitrate dehydrogenase 3 (NAD+) beta
    81(a)
    1 ↔ 1
    GL343574.1(174674-202038)
    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
    64.3(n)1
    64.81(a)1
      93F133
    425861  NM_001170211.11  NP_001163682.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C37E2.13
    idhb-11
    isocitrate dehydrogenase3
    idhb-11
    60(a)
    (best of 2)3
    60.55(n)1
    64.22(a)1
      X(14206688-14208613)3
    1815281  NM_077961.51  NP_510362.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IDH11 IDH1 51.81(n)
    48.19(a)
      855691   NP_014361.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IDH21 IDH2 56.91(n)
    52.96(a)
      816218  NM_127267.2  NP_179304.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04792001 Os04g0479200 55.04(n)
    51.71(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

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    Paralogs for IDH3B gene
    IDH3G2  
    2 SIMAP similar genes for IDH3B using alignment to 2 protein entries:     IDH3B_HUMAN (see all proteins):
    IDH3G    IDH3A

    Find genes that share paralogs with IDH3B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for IDH3B (see all 249)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0548514
    Retinitis pigmentosa 46 (RP46)4--see VAR_0548512 L P mis40--------
    rs1142531551,2
    C,F--2588544(+) GTGACC/TTTGCC 6 K syn12Minor allele frequency- T:0.03WA NA 4670
    rs1482509241,2
    C--2588556(+) CGCCCC/GTTCTT 6 N K mis11Minor allele frequency- G:0.00NA 4552
    rs1129586161,2
    C,F--2588691(+) AAGGGA/CAACAA 3 -- int12Minor allele frequency- C:0.04CSA WA 122
    rs2009558561,2
    C,F--2588693(+) GGGAAA/GCAAGG 3 -- int11Minor allele frequency- G:0.00EU 1323
    rs558993061,2
    C,F--2588724(+) TTCATC/TCTTGC 3 -- int11Minor allele frequency- T:0.01EU 1323
    rs1411497591,2
    F--2588769(+) CAGAGA/CGCTGT 6 A S mis11Minor allele frequency- C:0.00NA 4552
    rs115427411,2,,4
    H--2588788(-) GAGCAG/TACAGA 6 Q H mis1 ese36Minor allele frequency- T:0.00NS EA NA 410
    rs1858385021,2
    C--2588796(+) CTCTCG/AAATGA 6 /R /* stg11Minor allele frequency- A:0.00EU 1323
    rs2018474861,2
    --2588895(+) GAGGGC/TGGGCA 3 -- int10--------

    HapMap Linkage Disequilibrium report for IDH3B (2639041 - 2644865 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for IDH3B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv988063CNV Insertion20482838
    esv1188410CNV Insertion17803354
    nsv458852CNV Loss19166990
    nsv470535CNV Gain18288195

    Human Gene Mutation Database (HGMD): IDH3B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

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    OMIM gene information: 604526   
    OMIM disorders: 612572  
    UniProtKB/Swiss-Prot: IDH3B_HUMAN, O43837
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for IDH3B:    
    About MalaCards
    retinitis pigmentosa 46    idh3b-related retinitis pigmentosa    leber congenital amaurosis


    Find genes that share disorders with IDH3B           About GenesLikeMe

    Genetic Association Database (GAD): IDH3B
    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)
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    PubMed articles for IDH3B gene, integrated from 10 sources (see all 35):
    (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. (Cytogenet. Cell Genet. 1999)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. 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. (Nat. Genet. 2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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. (Genome Res. 2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    7. 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. (J. Biol. Chem. 1999)
    8. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (Mol. Endocrinol. 2013)
    9. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1 Stehling O.... Lill R. (Science 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 3420 HGNC: 5385 AceView: IDH3B Ensembl:ENSG00000101365 euGenes: HUgn3420
    ECgene: IDH3B Kegg: 3420 H-InvDB: IDH3B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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