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

SORD Gene

protein-coding   GIFtS: 64
GCID: GC15P045315

sorbitol dehydrogenase

 Explore 31 diseases affiliated with
SORD via our new
 Human Malady Compendium 
Biological research products
for SORD
    

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

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


(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_000015.9  NC_018926.1  NT_010194.17  
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 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003095.2  
    ENSEMBL proteins: 
     ENSP00000267814   ENSP00000453904   ENSP00000452731   ENSP00000453122  

    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS6177277
    GO:0005624membrane fraction ----
    GO:0005625soluble fraction ----
    GO:0005739mitochondrion ----
    GO:0005929cilium ----


    SORD for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for SORD

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    Browse ELISAs and CLIAs at Uscn


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

    SORD for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR013149 ADH_C
     IPR011032 GroES-like
     IPR016040 NAD(P)-bd_dom
     IPR013154 ADH_GroES-like
     IPR002328 ADH_Zn_CS

    Graphical View of Domain Structure for InterPro Entry Q00796

    ProtoNet protein and cluster: Q00796

    2 Blocks protein families:
    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


    (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: 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

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORD

    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:0000166nucleotide binding ----
    GO:0003939L-iditol 2-dehydrogenase activity ISS--
    GO:0008270zinc ion binding ISS--
    GO:0016491oxidoreductase activity ----
    GO:0030246carbohydrate binding NAS12962626


    SORD for ontologies           About GeneDecksing


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

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

    SORD for phenotypes           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
    1sorbitol degradation I
    sorbitol degradation I1.00
    2Fructose and mannose metabolism
    Fructose and mannose metabolism1.00
    3Fructose catabolism
    Polyol pathway0.50
    4Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process TAS14965227
    GO:0006060sorbitol metabolic process ----
    GO:0006062sorbitol catabolic process IDA3365415
    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, 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

    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 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 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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 cDNA 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):

    BU737553 AA336950 CB157396 AU141280 BC021085 CB161419 BQ877666 BM669919 
    BM725523 H59234 H89665 BC025295 BF939461 BU607922 BF431179 CR616486 
    BU740335 CB155958 BU738108 BU168666 BE901426 AA526466 CA489706 AA550898 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTTGTGCC

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

    About this image

    SORD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyLoop of HenleLoop of Henle CellsKidney
    KidneyProximal TubuleProximal Tubule CellsKidney
    KidneyEpithelial TubuleKidney
    KidneyLoop of HenleKidney
    KidneyMetanephrosKidney
    KidneyProximal TubuleKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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)

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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 last universal common ancestor (LUCA).

    Orthologs for SORD gene from 10/35 species (see all 35)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SORD1 sorbitol dehydrogenase 74.58(n)
    77.68(a)
      415332  XM_413719.3  XP_413719.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    73(a)
    1 ↔ 1
    GL343490.1(326246-337215)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.40262 Xenopus laevis transcribed sequence with moderate similarity more 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; more4
    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 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ydjJ6
    idnD6
    (see all 7)
    L-idonate 5-dehydrogenase, NAD-binding
    (see all 7)
    36(a)
    31(a)
    (see all 7)
    1 ↔ 1
    possible ortholog
    (see all 7)
    Chromosome(1855814-1856857)
    Chromosome(4491398-4492429)


    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, 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

    10/1130 NCBI SNPs in SORD are shown (see all 1130    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928783651,2
    --45313322(+) TGAACA/CAGGTA 2 -- us2k10--------
    rs1466587131,2
    --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--------
    rs1853499491,2
    --45313995(+) GGGAGG/TGGGGA 2 -- us2k10--------
    rs1904482331,2
    --45314076(+) GAAGCA/GCCTCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SORD (45315302 - 45369383 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for SORD
         8 CNVs: 32033 87666 3080 30711 3961 72241 58723 66789
         2 Inversions: 29483 37168

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SORD for disorders           About GeneDecksing

    OMIM gene information: 182500    OMIM disorders: --

    20/31 diseases for SORD (see all 31):    About MalaCards
    drug-induced hepatitis    cataract    neuroaxonal dystrophy    acute diffuse nephritis
    congenital cataracts    mature cataract    diabetic retinopathy    myocardial infarction
    acute myocardial infarction    diabetes mellitus    peripheral neuropathy    thyrotoxicosis
    fascioliasis    diabetic cataract    nephritis    diabetic neuropathy
    neuropathy    hyperglycemia    stomach cancer    epididymitis

    6 Novoseek 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)

    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 158):
    (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. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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)

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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