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

SORD Gene

protein-coding   GIFtS: 67
GCID: GC15P045315

Sorbitol Dehydrogenase

  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Sorbitol Dehydrogenase1 2
L-Iditol 2-Dehydrogenase2 3
EC 1.1.1.143 8
SORD12 5
EC 1.1.18

External Ids:    HGNC: 111841   Entrez Gene: 66522   Ensembl: ENSG000001402637   OMIM: 1825005   UniProtKB: Q007963   
ORGUL members:         
NONCODE14:n409653      

Export aliases for SORD gene to outside databases

Previous GC identifers: GC15P040873 GC15P038362 GC15P042894 GC15P043031 GC15P043102 GC15P022139


(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 SORD Gene:
Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding
ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed
to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995
(PubMed 8535074)). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose
to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+)
cofactor.(supplied by OMIM, Jul 2010)

GeneCards Summary for SORD Gene: 
SORD (sorbitol dehydrogenase) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SORD include acute diffuse nephritis, and mature cataract, and among its related super-pathways are Fructose catabolism and Metabolism. GO annotations related to this gene include carbohydrate binding and L-iditol 2-dehydrogenase activity.

UniProtKB/Swiss-Prot: DHSO_HUMAN, Q00796
Function: Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm
physiology. May play a role in the sperm motility by providing an energetic source for sperm (By similarity)

Gene Wiki entry for SORD 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SORD gene promoter:
         AP-1   POU6F1 (c2)   STAT5A   N-Myc   POU2F1   POU2F1a   POU2F1b   POU2F1c   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSORD promoter sequence
   Search SABiosciences Chromatin IP Primers for SORD

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


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

Entrez Gene cytogenetic band: 15q15.3   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q15-q21.1

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P045315:  view genomic region     (about GC identifiers)

Start:
45,315,302 bp from pter      End:
45,369,383 bp from pter
Size:
54,082 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHSO_HUMAN, Q00796 (See protein sequence)
Recommended Name: Sorbitol dehydrogenase  
Size: 357 amino acids; 38325 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Homotetramer
Subcellular location: Mitochondrion membrane; Peripheral membrane protein. Cell projection, cilium, flagellum.
Note=Associated with mitochondria of the midpiece and near the plasma membrane in the principal piece of the
flagellum. Also found in the epididymosome, secreted by the epididymal epithelium and that transfers proteins
from the epididymal fluid to the sperm surface (By similarity)
Miscellaneous: The polyol pathway is proposed to be involved the cellular toxicity of diabetic hyperglycemia
3 PDB 3D structures from and Proteopedia for SORD:
1PL6 (3D)        1PL7 (3D)        1PL8 (3D)    
Secondary accessions: B2R655 J3JZZ5 Q16682 Q9UMD6

Explore the universe of human proteins at neXtProt for SORD: NX_Q00796

Explore proteomics data for SORD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q00796

  • 4/7 DME Specific Peptides for SORD (Q00796) (see all 7)
     VVVTDLS  PMVLGHE  FCYKLPD  RLENYPIPE 

    SORD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SORD Protein Expression
    REFSEQ proteins: NP_003095.2  
    ENSEMBL proteins: 
     ENSP00000267814   ENSP00000453904   ENSP00000452731   ENSP00000453122  

    Human Recombinant Protein Products for SORD: 
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    ProSpec Recombinant Protein for SORD
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS6177277
    GO:0005739mitochondrion ----
    GO:0016020membrane IDA8487505
    GO:0031514motile cilium ISS--
    GO:0031966mitochondrial membrane IEA--

    SORD for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR011032 GroES-like
     IPR016040 NAD(P)-bd_dom
     IPR013154 ADH_GroES-like
     IPR002328 ADH_Zn_CS
     IPR013149 ADH_C

    Graphical View of Domain Structure for InterPro Entry Q00796

    ProtoNet protein and cluster: Q00796

    2 Blocks protein domains:
    IPB002328 Zinc-containing alcohol dehydrogenase
    IPB013154 Alcohol dehydrogenase GroES-like


    UniProtKB/Swiss-Prot: DHSO_HUMAN, Q00796
    Similarity: Belongs to the zinc-containing alcohol dehydrogenase family


    SORD 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHSO_HUMAN, Q00796
    Function: Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm
    physiology. May play a role in the sperm motility by providing an energetic source for sperm (By similarity)
    Catalytic activity: L-iditol + NAD(+) = L-sorbose + NADH
    Induction: Up-regulated by androgens and down-regulated by castration

         Genatlas biochemistry entry for SORD:
    sorbitol dehydrogenase,including two homologous genes SORD1,SORD2 resulting of a recent gene duplication event

         Enzyme Numbers (IUBMB): EC 1.1.1.141 2 EC 1.1.12

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003939L-iditol 2-dehydrogenase activity ISS--
    GO:0008270zinc ion binding ISS--
    GO:0016491oxidoreductase activity ----
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
    GO:0030246carbohydrate binding NAS12962626
         
    SORD for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SORD:
     Decreased POU5F1-GFP protein e  Increased G1 DNA content 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sord):
     homeostasis/metabolism  normal  vision/eye 

    SORD for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SORD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SORD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SORD 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SORD 

    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate SORD (see all 12):
    hsa-miR-3910 hsa-miR-224 hsa-miR-767-3p hsa-miR-526b hsa-miR-138-1* hsa-miR-124 hsa-miR-3154 hsa-miR-3185
    SwitchGear 3'UTR luciferase reporter plasmidSORD 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SORD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fructose catabolism
    Polyol pathway0.50
    2Metabolism
    Metabolic pathways0.40
    3sorbitol degradation I
    sorbitol degradation I
    4Fructose and mannose metabolism
    Fructose and mannose metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SORD
        Polyol pathway
    sorbitol degradation I



    2         Kegg Pathways  (Kegg details for SORD):
        Fructose and mannose metabolism
    Metabolic pathways


    SORD for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/33 Interacting proteins for SORD (Q007962, 3 ENSP000002678144) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GH1P012413, ENSP000003126734I2D: score=1 STRING: ENSP00000312673
    SHBGP042783, ENSP000003698164I2D: score=3 STRING: ENSP00000369816
    TNIKQ9UKE53, ENSP000003995114I2D: score=1 STRING: ENSP00000399511
    HSP90AA1P079003I2D: score=3 
    COQ2Q96H963I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process TAS14965227
    GO:0006060sorbitol metabolic process ----
    GO:0006062sorbitol catabolic process IDA12962626
    GO:0030317sperm motility NAS16278369
    GO:0046370fructose biosynthetic process IDA3365415

    SORD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SORD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SORD (DHSO)

    10/13 HMDB Compounds for SORD (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    D-FructoseBeta-d-arabino-hexulose (see all 16)53188-23-1--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--
    L-Iditolgalactitol (see all 25)488-45-9--
    L-SorboseL(-)-Sorbose (see all 15)87-79-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--

    3 DrugBank Compounds for SORD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cp-166572, 2-Hydroxymethyl-4-(4-N,N-Dimethylaminosulfonyl-1-Piperazino)-Pyrimidine-- --target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17508915 17343568
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423

    10/34 Novoseek inferred chemical compound relationships for SORD gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannitol 92.8 259 8477720 (7), 10843227 (4), 2050152 (4), 1736046 (4) (see all 99)
    aldose 88.4 37 8051955 (4), 16278369 (3), 14968292 (2), 8236522 (1) (see all 30)
    zopolrestat 82.1 1 9681469 (1)
    glyceraldehyde 77.4 5 9513410 (1), 2286282 (1), 2134294 (1), 12355795 (1) (see all 5)
    fructose 73.9 19 9583077 (1), 20372835 (1), 16046162 (1), 9183016 (1) (see all 17)
    sorbinil 72.9 2 2118946 (1), 9681469 (1)
    nad+ 62.7 5 8487505 (2), 17503864 (1), 14965227 (1), 20171913 (1)
    xylitol 61.2 4 1736046 (1), 9702179 (1), 8504864 (1)
    nadh 53 3 17508915 (1), 8222231 (1), 18566893 (1)
    aspartate 46.9 12 8000794 (1), 15792618 (1), 8000790 (1), 10843081 (1) (see all 12)

    Search CenterWatch for drugs/clinical trials and news about SORD / DHSO

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SORD gene: 
    NM_003104.5  

    Unigene Cluster for SORD:

    Sorbitol dehydrogenase
    Hs.878  [show with all ESTs]
    Unigene Representative Sequence: NR_034039
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000267814(uc001zul.4 uc010bdz.3) ENST00000558789(uc010uel.2)
    ENST00000559230 ENST00000558580 ENST00000560488 ENST00000559562 ENST00000558574

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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate SORD (see all 12):
    hsa-miR-3910 hsa-miR-224 hsa-miR-767-3p hsa-miR-526b hsa-miR-138-1* hsa-miR-124 hsa-miR-3154 hsa-miR-3185
    SwitchGear 3'UTR luciferase reporter plasmidSORD 3' UTR sequence
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    Additional mRNA sequence: 

    AK090738.1 AK295656.1 AK296574.1 AK309672.1 AK312444.1 BC021085.2 BC025295.1 L29008.1 
    NR_034039.1 U07361.1 

    23 DOTS entries:

    DT.454434  DT.109610  DT.121064288  DT.92416194  DT.95335442  DT.100030618  DT.95081273  DT.101981016 
    DT.100818806  DT.100818808  DT.100818812  DT.121064193  DT.121064233  DT.121064282  DT.91795351  DT.121064197 
    DT.121064253  DT.121064265  DT.121064296  DT.121064299  DT.121078023  DT.121632888  DT.92453180 

    24/478 AceView cDNA sequences (see all 478):

    CB157845 BC021085 BM924898 CB162141 NM_003104 BU169061 BG259571 AV699883 
    BG431139 BF431179 BC025295 AK090738 BQ678056 BQ425005 AU159257 AA550898 
    AI948718 BU146882 AA336950 BM700523 AL580262 CB157040 BQ271048 BU738108 

    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™, 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

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


    SORD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
             kidney ; cells in tubules   
             visceral organ/metanephros/renal medulla   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 6 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, pre-menopause ; glandular cells   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   

    See SORD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SORD

    SOURCE GeneReport for Unigene cluster: Hs.878

    UniProtKB/Swiss-Prot: DHSO_HUMAN, Q00796
    Tissue specificity: Expressed in kidney and epithelial cells of both benign and malignant prostate tissue.
    Expressed in epididymis (at protein level)

        SABiosciences Custom PCR Arrays for SORD
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SORD gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sord1 , 5 sorbitol dehydrogenase1, 5 81.51(n)1
    82.91(a)1
      2 (60.59 cM)5
    203221  NM_146126.41  NP_666238.11 
     1222347495 
    chicken
    (Gallus gallus)
    Aves SORD1 sorbitol dehydrogenase 74.58(n)
    77.68(a)
      415332  XM_413719.3  XP_413719.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    SORD6
    sorbitol dehydrogenase
    73(a)
    63(a)
    possible ortholog
    1 ↔ 1
    GL343490.1(326246-337215)
    AAWZ02038891(825-6802)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.40262 Xenopus laevis transcribed sequence with moderate similarity to protein spQ00796 (H.sapiens) DHSO_HUMAN Sorbitol dehydrogenase (L-iditol 2-dehydrogenase) less 76.18(n)    BX851272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636742 hypothetical protein MGC63674 74.37(n)   393588  BC056799.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sodh-11 , 3 L-iditol 2-dehydrogenase3
    Sorbitol dehydrogenase 11
    55(a)
    (best of 3)3
    60.17(n)1
    56.16(a)1
      84B23
    408361  NM_058000.21  NP_477348.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R04B5.53
    CELE_R04B5.51
    sorbitol dehydrogenase3
    Protein R04B5.51
    53(a)
    (best of 2)3
    54.13(n)1
    53.64(a)1
      V(10090077-10091506)3
    1794051  NM_073190.21  NP_505591.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes XYL2(YLR070C)4
    SOR11
    Xylitol dehydrogenase, converts xylitol to D-xylulose; expression induced by xylose, even though this pentose sugar is not well utilized by S. cerevisiae; null mutant has cell wall defect less4
    Sor1p1
    49.24(n)1
    44.38(a)1
      12(275211-274141)4
    8536241  NP_012693.11  8507594 
     NP_013171.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G519701 L-iditol 2-dehydrogenase 52.61(n)
    46.61(a)
      835272  NM_124576.3  NP_200010.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05452001 hypothetical protein 50.34(n)
    46.97(a)
      4346217  NM_001068947.1  NP_001062412.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SORD gene
    2 SIMAP similar genes for SORD using alignment to 4 protein entries:     DHSO_HUMAN (see all proteins):
    ADH1B    ADH6

    SORD for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SORD
    PGOHUM00000246773 PGOHUM00000232958


    (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) 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

    10/1328 SNPs in SORD are shown (see all 1328)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0603514
    ----see VAR_0603512 N T mis40--------
    rs672938521,2
    C--25427711(+) TTTTT-/T/TT  
            
    ACCTT
    2 -- int11NA 2
    rs1928783651,2
    C--45313322(+) TGAACA/CAGGTA 2 -- us2k10--------
    rs1466587131,2
    C--45313375(+) ACACTC/GGGAGC 2 -- us2k10--------
    rs1842727101,2
    --45313409(+) TGGCCA/GTCTTG 2 -- us2k10--------
    rs1882710381,2
    --45313666(+) ATAAAC/TTCACT 2 -- us2k10--------
    rs9630021,2
    C,F,A,H--45313679(-) acaagG/Atcaga 2 -- us2k1 tfbs319Minor allele frequency- A:0.25NS EA NA WA CSA 889
    rs1165207891,2
    C--45313681(+) TGACCC/TTGTGG 2 -- us2k10--------
    rs133796371,2
    C,F,H--45313759(+) aaacaA/Gtcagc 2 -- us2k16Minor allele frequency- G:0.04NS EA CSA WA 538
    rs1404542981,2
    --45313913(+) CCCTAC/TTGCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SORD (45315302 - 45369383 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for SORD (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509570CNV Insertion20534489
    nsv1519CNV Insertion18451855
    nsv9260CNV Loss18304495
    nsv9261CNV Loss18304495
    esv28190CNV Loss19812545
    nsv827318CNV Gain20364138
    nsv820141CNV Gain19587683
    nsv9259CNV Gain18304495
    dgv435n67CNV Gain20364138
    esv27178CNV Gain19812545

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SORD
    DNA2.0 Custom Variant and Variant Library Synthesis for SORD

    (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.)
    About This Section
    OMIM gene information: 182500    OMIM disorders: --

    20/28 diseases for SORD (see all 28):    About MalaCards
    acute diffuse nephritis    mature cataract    diabetic cataract    neuroaxonal dystrophy
    drug-induced hepatitis    thyrotoxicosis    fascioliasis    hyperglycemia
    diabetic neuropathy    cataract    diabetic retinopathy    stomach cancer
    epididymitis    peripheral neuropathy    nephritis    neuropathy
    acute myocardial infarction    myocardial infarction    diabetes mellitus    alcoholism

    5 diseases from the University of Copenhagen DISEASES database for SORD:
    Acute diffuse nephritis     Diabetic cataract     Diabetes mellitus     Fascioliasis
    Mature cataract

    SORD for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for SORD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital cataract 47.5 3 8088829 (1), 7641773 (1), 8487505 (1)
    cataract 39.3 4 2122118 (1), 8344129 (1), 18760274 (1)
    hyperglycemia 25.4 1 1736046 (1)
    diabetic retinopathy 20.9 1 12615520 (1)
    diabetes mellitus 4.78 2 9513410 (1), 12355795 (1)
    hepatitis 0 1 10647202 (1)

    Genetic Association Database (GAD): SORD
    Human Genome Epidemiology (HuGE) Navigator: SORD (1 document)

    Export disorders for SORD 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 SORD gene, integrated from 9 sources (see all 161):
    (articles sorted by number of sources associating them with SORD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural organization of the human sorbitol dehydrogenase gene (SORD). (PubMed id 7782086)1, 2, 3, 9 Iwata T.... Carper D. (1995)
    2. Sorbitol dehydrogenase expression is regulated by and rogens in the human prostate. (PubMed id 20372835)1, 2, 9 SzabA^ Z....Vaarala M.H. (2010)
    3. Identification and characterisation of a sequence related to human sorbitol dehydrogenase. (PubMed id 9183016)1, 2, 9 Carr I.M.... Coletta P.L. (1997)
    4. The human sorbitol dehydrogenase gene: cDNA cloning, sequence determination, and mapping by fluorescence in situ hybridization. (PubMed id 8088829)1, 2, 9 Lee F.K.... Chung S. (1994)
    5. ZAC1 is up-regulated by hypertonicity and decreases s orbitol dehydrogenase expression, allowing accumulation of sorbitol in kidney c ells. (PubMed id 19423711)1, 2, 9 Lanaspa M.A....Berl T. (2009)
    6. Polyol pathway in human epididymis and semen. (PubMed id 16278369)1, 2, 9 Frenette G....Sullivan R. (2006)
    7. X-ray crystallographic and kinetic studies of human sorbitol dehydrogenase. (PubMed id 12962626)1, 2, 9 Pauly T.A.... Rath V.L. (2003)
    8. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. (PubMed id 20628624)1, 4 Johnatty S.E.... . (2010)
    9. Catalytic mechanism of Zn2+-dependent polyol dehydrogenases: kinetic comparison of sheep liver sorbitol dehydrogenase with wild-type and Glu154-->Cys forms of yeast xylitol dehydrogenase. (PubMed id 17343568)1, 7 Klimacek M....Nidetzky B. (2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6652 HGNC: 11184 AceView: SORD Ensembl:ENSG00000140263 euGenes: HUgn6652
    ECgene: SORD Kegg: 6652 H-InvDB: SORD

    (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 SORD 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 SORD gene:
    Search GeneIP for patents involving SORD

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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