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AKR1B10 Gene

protein-coding   GIFtS: 66
GCID: GC07P134212

Aldo-Keto Reductase Family 1, Member B10 (Aldose Reductase)


(Previous symbol: AKR1B11)
  See 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
Aldo-Keto Reductase Family 1, Member B10 (Aldose Reductase)1 2     Member B11 (Aldose Reductase-Like)1
AKR1B111 2 3     AKR1B122
Aldose Reductase-Related Protein1 2 3     ALDRLn2
Small Intestine Reductase1 2 3     HIS2
Aldose Reductase-Like 11 2     HSI2
Aldose Reductase-Like Peptide1 2     Aldo-Keto Reductase Family 1 Member B102
ARL-12 3     Aldo-Keto Reductase Family 1, Member B11 (Aldose Reductase-Like)2
ARP2 3     EC 1.1.1.-3
hARP2 3     Aldose Reductase-Like3
SI Reductase2 3     EC 1.1.18
ARL12 5     EC 1.1.1.218
Aldo-Keto Reductase Family 11     

External Ids:    HGNC: 3821   Entrez Gene: 570162   Ensembl: ENSG000001980747   OMIM: 6047075   UniProtKB: O602183   

Export aliases for AKR1B10 gene to outside databases

Previous GC identifers: GC07P132555 GC07P133614 GC07P133628 GC07P133669 GC07P133862 GC07P128514


(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 AKR1B10 Gene:
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes
and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on
hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in
liver carcinogenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for AKR1B10 Gene:
AKR1B10 (aldo-keto reductase family 1, member B10 (aldose reductase)) is a protein-coding gene. Diseases associated with AKR1B10 include diabetic cataract, and usual interstitial pneumonia. GO annotations related to this gene include indanol dehydrogenase activity and aldo-keto reductase (NADP) activity. An important paralog of this gene is AKR1C2.

UniProtKB/Swiss-Prot: AK1BA_HUMAN, O60218
Function: Acts as all-trans-retinaldehyde reductase. Can efficiently reduce aliphatic and aromatic aldehydes, and
is less active on hexoses (in vitro). May be responsible for detoxification of reactive aldehydes in the digested
food before the nutrients are passed on to other organs

Gene Wiki entry for AKR1B10 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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AKR1B10 gene promoter:
         SRF   AhR   SRF (504 AA)   Egr-1   Egr-4   YY1   Arnt   Evi-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AKR1B10 promoter sequence
   Search Chromatin IP Primers for AKR1B10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKR1B10


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q33

AKR1B10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1B10 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P134212:  view genomic region     (about GC identifiers)

Start:
134,212,344 bp from pter      End:
134,226,166 bp from pter
Size:
13,823 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 133,556,663-133,570,483     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AK1BA_HUMAN, O60218 (See protein sequence)
Recommended Name: Aldo-keto reductase family 1 member B10  
Size: 316 amino acids; 36020 Da
Selected PDB 3D structures from and Proteopedia for AKR1B10 (see all 8):
1ZUA (3D)        4GA8 (3D)        4GAB (3D)        4GQ0 (3D)        4GQG (3D)        4I5X (3D)    
Secondary accessions: A4D1P1 O75890 Q6FHF3 Q8IWZ1

Explore the universe of human proteins at neXtProt for AKR1B10: NX_O60218

Explore proteomics data for AKR1B10 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AKR1B10 (O60218) (see all 11)
     IPKSVTP  GLGTWKS  NIQVFDF  LFIVSKLW 


    See AKR1B10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064695.3  
    ENSEMBL proteins: 
     ENSP00000352584  
    Reactome Protein details: O60218

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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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    HGNC Gene Families:
    AKR: Aldo-keto reductases

    4 InterPro protein domains:
     IPR001395 Aldo/ket_red
     IPR018170 Aldo/ket_reductase_CS
     IPR020471 Aldo/keto_reductase_subgr
     IPR023210 NADP_OxRdtase_dom

    Graphical View of Domain Structure for InterPro Entry O60218

    ProtoNet protein and cluster: O60218

    1 Blocks protein domain: IPB001395 Aldo/keto reductase

    UniProtKB/Swiss-Prot: AK1BA_HUMAN, O60218
    Similarity: Belongs to the aldo/keto reductase family


    AKR1B10 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AK1BA_HUMAN, O60218
    Function: Acts as all-trans-retinaldehyde reductase. Can efficiently reduce aliphatic and aromatic aldehydes, and
    is less active on hexoses (in vitro). May be responsible for detoxification of reactive aldehydes in the digested
    food before the nutrients are passed on to other organs
    Enzyme regulation: Inhibited by tolrestat
    Biophysicochemical properties: Kinetic parameters: KM=600 uM for D,L-glyceraldehyde; KM=0.6 uM for
    all-trans-retinaldehyde; KM=0.7 uM for 9-cis-retinaldehyde;

         Enzyme Numbers (IUBMB): EC 1.1.1.212 EC 1.1.12 EC 1.1.1.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001758retinal dehydrogenase activity IDA--
    GO:0004033aldo-keto reductase (NADP) activity TAS9565553
    GO:0005515protein binding IPI18056116
    GO:0045550geranylgeranyl reductase activity IDA--
    GO:0047718indanol dehydrogenase activity IDA--
         
    AKR1B10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AKR1B10:
     Increased cell number in G2M,  

         1 MGI phenotypic allele for Akr1b8 (no phenotypes)

    AKR1B10 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKR1B10
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    hsa-mir-98-5p (MIRT027833), hsa-mir-145-5p (MIRT021503), hsa-mir-9-5p (MIRT021442)

    Block miRNA regulation of human, mouse, rat AKR1B10 using miScript Target Protectors
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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
    AK1BA_HUMAN, O60218: Lysosome. Secreted. Note=Secreted through a lysosome-mediated non-classical pathway
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome5
    vacuole5
    cytosol4
    mitochondrion2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005576extracellular region IEA--
    GO:0005764lysosome IEA--
    GO:0005829cytosol TAS--

    AKR1B10 for ontologies           About GeneDecksing


    (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 AKR1B10 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    2acetone degradation I (to methylglyoxal)
    acetone degradation I (to methylglyoxal)0.44
    methylglyoxal degradation III0.00
    3Cyclophosphamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.00
    4Glucuronidation
    Pentose and glucuronate interconversions0.61
    5Signaling by GPCR
    Signal Transduction0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for AKR1B10
        methylglyoxal degradation III
    acetone degradation I (to methylglyoxal)
    metapathway biotransformation


    1 Reactome Pathway for AKR1B10
        Retinoid metabolism and transport

    2 PharmGKB Pathways for AKR1B10
        Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for AKR1B10) (see all 6):
        Pentose and glucuronate interconversions
    Fructose and mannose metabolism
    Galactose metabolism
    Glycerolipid metabolism
    Pyruvate metabolism


    AKR1B10 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKR1B10
    Interactions:

        GeneGlobe Interaction Network for AKR1B10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for AKR1B10 (O602181, 3 ENSP000003525844) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACACAQ130851, 3, ENSP000003447894EBI-1572139,EBI-717681 I2D: score=2 STRING: ENSP00000344789
    DYNLL2Q96FJ23I2D: score=1 
    GLO1ENSP000003624634STRING: ENSP00000362463
    TERF2IPENSP000003000864STRING: ENSP00000300086
    CARHSP1ENSP000003118474STRING: ENSP00000311847
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006081cellular aldehyde metabolic process TAS9565553
    GO:0007586digestion TAS9565553
    GO:0007603phototransduction, visible light TAS--
    GO:0008202steroid metabolic process TAS9565553

    AKR1B10 for ontologies           About GeneDecksing



    (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 AKR1B10 (AK1BA)

    3 DrugBank Compounds for AKR1B10    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--10592235
    3,4-DIHYDRO-4-OXO-3-((5-TRIFLUOROMETHYL-2-BENZOTHIAZOLYL)METHYL)-1-PHTHALAZINE ACETIC ACID-- --target--10592235
    Tolrestat-- 82964-04-3target--10592235

    1 Novoseek inferred chemical compound relationship for AKR1B10 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aldose 87.2 31 20460771 (4), 19480738 (3), 14693054 (3), 15329204 (3) (see all 14)



    AKR1B10 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AKR1B10 gene: 
    NM_020299.4  

    Unigene Cluster for AKR1B10:

    Aldo-keto reductase family 1, member B10 (aldose reductase)
    Hs.116724  [show with all ESTs]
    Unigene Representative Sequence: AF524864
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359579(uc003vrr.3) ENST00000475559 ENST00000498818 ENST00000496435

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    Additional mRNA sequence: 

    AF044961.1 AF052577.1 AF524864.1 BC008837.2 BT006794.1 CR541801.1 U37100.1 

    14 DOTS entries:

    DT.208348  DT.100783869  DT.100783868  DT.209127  DT.100768987  DT.100028678  DT.121060709  DT.121061103 
    DT.121061153  DT.95268469  DT.97846185  DT.100783870  DT.121060925  DT.121061141 

    Selected AceView cDNA sequences (see all 163):

    CB119917 BX337599 BC072676 CB106637 AI452969 CB106577 BQ949452 BM837946 
    CR612412 BQ229376 BU168299 BM783186 NM_020299 BU175462 CR607509 BU164592 
    BQ224299 BQ230079 BE786484 AA365080 AF052577 BU175693 BC008837 BQ430693 

    GeneLoc Exon Structure


    (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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    AKR1B10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTGAATAA
    AKR1B10 Expression
    About this image


    AKR1B10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Diencephalon
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Thalamus
    AKR1B10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKR1B10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.116724

    UniProtKB/Swiss-Prot: AK1BA_HUMAN, O60218
    Tissue specificity: Found in many tissues. Highly expressed in small intestine, colon and adrenal gland

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

    Orthologs for AKR1B10 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akr1b81 , 5 aldo-keto reductase family 1, member B81, 5 81.43(n)1
    82.28(a)1
      6 (14.91 cM)5
    141871  NM_008012.11  NP_032038.11 
     343541195 
    chicken
    (Gallus gallus)
    Aves AKR1B101 aldo-keto reductase family 1, member B10 (aldose reductase) 71.9(n)
    69.87(a)
      395338  NM_204629.2  NP_989960.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-180p18.96
    si:dkey-180p18.9
    66(a)
    many ↔ many
    4(13972000-13980660) ENSDARG00000045598
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60841 , 3 aldehyde reductase3
    CG60841
    61(a)
    (best of 7)3
    62.37(n)1
    60.97(a)1
      68C153
    393041  NM_001274788.11  NP_001261717.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARA1(YBR149W)4
    GRE31
    NADP+ dependent arabinose dehydrogenase, involved in more4
    GRE31
    49.14(n)1
    43.99(a)1
      2(539987-541021)4
    8565041  NP_011972.11  8524464 
     NP_009707.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G212501 AT2G21250 48.62(n)
    43.45(a)
      816664  NM_127697.2  NP_179721.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01235001 Os02g0123500 49.94(n)
    42.56(a)
      4328139  NM_001052270.1  NP_001045735.1 


    ENSEMBL Gene Tree for AKR1B10 (if available)
    TreeFam Gene Tree for AKR1B10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AKR1B10 gene
    AKR1C22  AKR1CL12  AKR1C32  AKR1A12  AKR1C42  AKR1E22  AKR1B152  AKR1B12  
    AKR1D12  AKR1C12  
    11 SIMAP similar genes for AKR1B10 using alignment to 1 protein entry:     AK1BA_HUMAN:
    AKR1B15    AKR1B1    LOC402299    AKR1C1    AKR1E2    AKR1C4
    AKR1C3    AKR1C2    AKR1CL1    AKR1D1    AKR1A1

    AKR1B10 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for AKR1B10
    PGOHUM00000238821 PGOHUM00000235092


    (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)
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    Selected SNPs for AKR1B10 (see all 505)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs777863631,2
    Cuntested1134222402(+) AAAAAC/ACCGCA 2 /T /P mis11Minor allele frequency- A:0.50NA 2
    rs1823741081,2
    C--134210563(+) ATACTA/CTGCAA 1 -- us2k10--------
    rs6975361,2
    C,F--134210587(+) actgcG/Ctgtcc 1 -- us2k17Minor allele frequency- C:0.19NA WA CSA EA 366
    rs6975351,2
    C,F,A--134210616(+) ctttcA/Gtgatt 1 -- us2k16Minor allele frequency- G:0.20NA WA CSA EA 246
    rs1434523231,2
    --134210623(+) GATTGA/GTCTTT 1 -- us2k10--------
    rs1144823521,2
    C,F--134210647(+) ATTATT/CTCAAA 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs798534871,2
    C--134210678(+) TTTTCA/CTTGAA 1 -- us2k10--------
    rs1483688701,2
    --134210710(+) CCCCAA/GATATA 1 -- us2k10--------
    rs779415371,2
    --134210779(+) TTTTTC/GTTGTA 1 -- us2k10--------
    rs1888743831,2
    --134210880(+) GAAAAG/TAAAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AKR1B10 (134212344 - 134226166 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AKR1B10:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1240e199CNV Deletion23128226
    esv2669756CNV Deletion23128226
    esv2735180CNV Deletion23290073
    dgv430n21CNV Loss19592680
    nsv889222CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AKR1B10
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604707    OMIM disorders: --

    Selected diseases for AKR1B10 (see all 29):    
    About MalaCards
    diabetic cataract    usual interstitial pneumonia    barrett esophagus/esophageal adenocarcinoma    papillary renal cell carcinoma
    diabetic neuropathy    barrett's esophagus    pneumonia    cataract
    renal cell carcinoma    diabetic retinopathy    hepatocellular carcinoma    diabetic nephropathy
    medulloblastoma    neuropathy    type 1 diabetes    cervical cancer
    hepatitis c    esophagitis    cervicitis    diabetes mellitus


    AKR1B10 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for AKR1B10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatocellular carcinoma 33.8 9 19236911 (2), 14693054 (2), 18056116 (1), 17597105 (1)

    Genetic Association Database (GAD): AKR1B10
    Human Genome Epidemiology (HuGE) Navigator: AKR1B10 (6 documents)

    Export disorders for AKR1B10 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 AKR1B10 gene, integrated from 10 sources (see all 85):
    (articles sorted by number of sources associating them with AKR1B10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel human aldose reductase-like gene. (PubMed id 9565553)1, 2, 3, 9 Cao D.... Chung S.S.M. (J. Biol. Chem. 1998)
    2. Sequence and expression levels in human tissues of a new member of the aldo-keto reductase family. (PubMed id 9765596)1, 2, 3, 9 Hyndman D.J. and Flynn T.G. (Biochim. Biophys. Acta 1998)
    3. Aldo-keto reductase family 1, member B10 is secreted through a lysosome-mediated non-classical pathway. (PubMed id 21585341)1, 2 Luo D.X.... Cao D. (Biochem. J. 2011)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Structural basis for the high all-trans-retinaldehyde reductase activity of the tumor marker AKR1B10. (PubMed id 18087047)1, 2 Gallego O.... Pares X. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    6. 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)
    7. Phenotypic heterogeneity and associations of two aldose reductase gene polymorphisms with nephropathy and retinopathy in type 2 diabetes. (PubMed id 12882871)1, 4 Wang Y....Chan J.C. (Diabetes Care 2003)
    8. [Polymorphism of aldose reductase gene and susceptibility to retinopathy and nephropathy in Caucasians with type 1 diabetes]. (PubMed id 12365083)1, 4 Fanelli A....Marre M. (Arch Mal Coeur Vaiss 2002)
    9. Analysis of the association between diabetic nephropathy and polymorphisms in the aldose reductase gene in Type 1 and Type 2 diabetes mellitus. (PubMed id 11703436)1, 4 Neamat-Allah M....Cox A. (Diabet. Med. 2001)
    10. New member of aldose reductase family proteins overexpressed in human hepatocellular carcinoma. (PubMed id 9537432)1, 2 Scuric Z.... Hwang J.-J. (Hepatology 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 57016 HGNC: 382 AceView: AKR1B10 Ensembl:ENSG00000198074 euGenes: HUgn57016
    ECgene: AKR1B10 Kegg: 57016 H-InvDB: AKR1B10

    (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)
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    NameDescription
    PharmGKB entry for AKR1B10 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AKR1B10 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for AKR1B10 gene:
    Search GeneIP for patents involving AKR1B10

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



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