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 pathwa... See more...

Aliases for SORD Gene

Aliases for SORD Gene

  • Sorbitol Dehydrogenase 2 3 4 5
  • (R,R)-Butanediol Dehydrogenase 3 4
  • L-Iditol 2-Dehydrogenase 3 4
  • Ribitol Dehydrogenase 3 4
  • Xylitol Dehydrogenase 3 4
  • Polyol Dehydrogenase 3 4
  • EC 1.1.1.14 4 52
  • RDH 3 4
  • SDH 3 4
  • XDH 3 4
  • Epididymis Secretory Sperm Binding Protein Li 95n 3
  • EC 1.1.1.56 4
  • EC 1.1.1.- 4
  • EC 1.1.1.4 4
  • EC 1.1.1.9 4
  • HEL-S-95n 3
  • EC 1.1.1 52
  • SORD1 3

External Ids for SORD Gene

Previous GeneCards Identifiers for SORD Gene

  • GC15P040873
  • GC15P038362
  • GC15P042894
  • GC15P043031
  • GC15P043102
  • GC15P045315
  • GC15P022139

Summaries for SORD Gene

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. Diseases associated with SORD include Diabetic Neuropathy and Squamous Cell Papilloma. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ADH1A.

UniProtKB/Swiss-Prot Summary for SORD Gene

  • Polyol dehydrogenase that catalyzes the reversible NAD(+)-dependent oxidation of various sugar alcohols. Is mostly active with D-sorbitol (D-glucitol), L-threitol, xylitol and ribitol as substrates, leading to the C2-oxidized products D-fructose, L-erythrulose, D-xylulose, and D-ribulose, respectively (PubMed:3365415). Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. The polyol pathway is believed to be involved in the etiology of diabetic complications, such as diabetic neuropathy and retinopathy, induced by hyperglycemia (PubMed:12962626, PubMed:29966615, PubMed:25105142). May play a role in sperm motility by using sorbitol as an alternative energy source for sperm motility (PubMed:16278369). May have a more general function in the metabolism of secondary alcohols since it also catalyzes the stereospecific oxidation of (2R,3R)-2,3-butanediol. To a lesser extent, can also oxidize L-arabinitol, galactitol and D-mannitol and glycerol in vitro. Oxidizes neither ethanol nor other primary alcohols. Cannot use NADP(+) as the electron acceptor (PubMed:3365415).

Gene Wiki entry for SORD Gene

Additional gene information for SORD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SORD Gene

Genomics for SORD Gene

GeneHancer (GH) Regulatory Elements for SORD Gene

Promoters and enhancers for SORD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J045022 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 506.7 +0.4 397 2.2 NRF1 USF1 POLR2G PHF8 POLR2A AFF1 HES1 TOE1 PRPF4 MXI1 SORD HMGN2P46 piR-33222
GH15J045021 Enhancer 0.5 ENCODE 551.2 -1.6 -1606 0.1 EP300 JUN RCOR1 GTF2F1 JUND FOS SORD piR-49156-010
GH15J045023 Promoter 0.3 Ensembl 551.2 -1.0 -1003 0.2 SORD piR-49156-010
GH15J045047 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 31.5 +25.8 25825 2.6 ZBTB40 NRF1 PHB2 ZBTB11 AFF1 TARDBP HES1 TOE1 CTBP1 MYC ENSG00000252171 SORD SPG11 SPATA5L1 B2M LOC100422669 ENSG00000259418
GH15J044979 Enhancer 0.8 Ensembl 48.8 -43.4 -43403 1 KDM6A TCF7 ZBTB7A TEAD1 FOXA2 CEBPB SAP130 MIER3 CREM FOXP1 SORD DUOX1 DUOXA1 RNU6-966P RF00026-355 piR-32214-211 TERB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SORD on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SORD

Top Transcription factor binding sites by QIAGEN in the SORD gene promoter:
  • AP-1
  • N-Myc
  • Pax-4a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU6F1 (c2)
  • STAT5A

Genomic Locations for SORD Gene

Genomic Locations for SORD Gene
chr15:45,023,104-45,077,185
(GRCh38/hg38)
Size:
54,082 bases
Orientation:
Plus strand
chr15:45,315,302-45,369,383
(GRCh37/hg19)
Size:
54,082 bases
Orientation:
Plus strand

Genomic View for SORD Gene

Genes around SORD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SORD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SORD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SORD Gene

Proteins for SORD Gene

  • Protein details for SORD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00796-DHSO_HUMAN
    Recommended name:
    Sorbitol dehydrogenase
    Protein Accession:
    Q00796
    Secondary Accessions:
    • B2R655
    • B7Z3A6
    • J3JZZ5
    • Q16682
    • Q9UMD6

    Protein attributes for SORD Gene

    Size:
    357 amino acids
    Molecular mass:
    38325 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for SORD Gene

    Alternative splice isoforms for SORD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SORD Gene

Selected DME Specific Peptides for SORD Gene

Q00796:
  • VVVTDLS
  • MHSVGICGSDVHYW
  • FEEGALIEPLSV
  • FCYKLPD
  • REVDIKGVFRYCNTWP
  • RLENYPIPE
  • PMVLGHE

Post-translational modifications for SORD Gene

  • Ubiquitination at Lys107 and Lys134
  • Modification sites at PhosphoSitePlus

Other Protein References for SORD Gene

Domains & Families for SORD Gene

Gene Families for SORD Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SORD Gene

Blocks:
  • Zinc-containing alcohol dehydrogenase
  • Alcohol dehydrogenase GroES-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SORD Gene

GenScript: Design optimal peptide antigens:
  • L-iditol 2-dehydrogenase (DHSO_HUMAN)
  • Rhesus blood group D antigen (Q19A86_HUMAN)
  • Rhesus blood group D antigen (Q19A87_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00796

UniProtKB/Swiss-Prot:

DHSO_HUMAN :
  • Belongs to the zinc-containing alcohol dehydrogenase family.
Family:
  • Belongs to the zinc-containing alcohol dehydrogenase family.
genes like me logo Genes that share domains with SORD: view

Function for SORD Gene

Molecular function for SORD Gene

UniProtKB/Swiss-Prot Function:
Polyol dehydrogenase that catalyzes the reversible NAD(+)-dependent oxidation of various sugar alcohols. Is mostly active with D-sorbitol (D-glucitol), L-threitol, xylitol and ribitol as substrates, leading to the C2-oxidized products D-fructose, L-erythrulose, D-xylulose, and D-ribulose, respectively (PubMed:3365415). Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. The polyol pathway is believed to be involved in the etiology of diabetic complications, such as diabetic neuropathy and retinopathy, induced by hyperglycemia (PubMed:12962626, PubMed:29966615, PubMed:25105142). May play a role in sperm motility by using sorbitol as an alternative energy source for sperm motility (PubMed:16278369). May have a more general function in the metabolism of secondary alcohols since it also catalyzes the stereospecific oxidation of (2R,3R)-2,3-butanediol. To a lesser extent, can also oxidize L-arabinitol, galactitol and D-mannitol and glycerol in vitro. Oxidizes neither ethanol nor other primary alcohols. Cannot use NADP(+) as the electron acceptor (PubMed:3365415).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-fructose + H(+) + NADH = D-sorbitol + NAD(+); Xref=Rhea:RHEA:33031, ChEBI:CHEBI:15378, ChEBI:CHEBI:17924, ChEBI:CHEBI:37721, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:33033; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-threitol + NAD(+) = H(+) + L-erythrulose + NADH; Xref=Rhea:RHEA:48760, ChEBI:CHEBI:15378, ChEBI:CHEBI:27913, ChEBI:CHEBI:42090, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NAD(+) + xylitol = D-xylulose + H(+) + NADH; Xref=Rhea:RHEA:20433, ChEBI:CHEBI:15378, ChEBI:CHEBI:17140, ChEBI:CHEBI:17151, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.9; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NAD(+) + ribitol = D-ribulose + H(+) + NADH; Xref=Rhea:RHEA:20053, ChEBI:CHEBI:15378, ChEBI:CHEBI:15963, ChEBI:CHEBI:17173, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.56; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R,R)-butane-2,3-diol + NAD(+) = (R)-acetoin + H(+) + NADH; Xref=Rhea:RHEA:24340, ChEBI:CHEBI:15378, ChEBI:CHEBI:15686, ChEBI:CHEBI:16982, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.4; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-iditol + NAD(+) = H(+) + keto-L-sorbose + NADH; Xref=Rhea:RHEA:10160, ChEBI:CHEBI:13172, ChEBI:CHEBI:15378, ChEBI:CHEBI:18202, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.14; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by CP-166,572, an inhibitor that is competitive with fructose (PubMed:12962626). Also competitively inhibited by phenanthroline and 4-methylpyrazole in vitro (PubMed:3365415).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.5 mM for sorbitol {ECO:0000269 PubMed:12962626}; KM=225 uM for NAD(+) {ECO:0000269 PubMed:12962626}; KM=210 uM for NADH {ECO:0000269 PubMed:12962626}; KM=0.62 mM for D-sorbitol (at pH 7.1) {ECO:0000269 PubMed:3365415}; KM=0.67 mM for D-sorbitol (at pH 10.0) {ECO:0000269 PubMed:3365415}; KM=0.22 mM for xylitol (at pH 10.0) {ECO:0000269 PubMed:3365415}; KM=2.7 mM for L-threitol (at pH 10.0) {ECO:0000269 PubMed:3365415}; KM=9.5 mM for (2R,3R)-2,3-butanediol (at pH 10.0) {ECO:0000269 PubMed:3365415}; KM=0.14 M for D-fructose (at pH 7.1) {ECO:0000269 PubMed:3365415}; Note=kcat is 1.7 sec(-1) for the oxidation of D-sorbitol at pH 7.1, and 5.2 sec(-1) at pH 10.0. kcat is 5.9 sec(-1) the oxidation of xylitol as substrate at pH 10.0. kcat is 5.3 sec(- 1) the oxidation of L-threitol as substrate at pH 10.0. kcat is 4.2 sec(-1) the oxidation of (2R,3R)-2,3-butanediol as substrate at pH 10.0. kcat is 45 sec(-1) for the reduction of D-fructose at pH 7.1. {ECO:0000269 PubMed:3365415};
UniProtKB/Swiss-Prot Induction:
Up-regulated by androgens and down-regulated by castration.
GENATLAS Biochemistry:
sorbitol dehydrogenase,including two homologous genes SORD1,SORD2 resulting of a recent gene duplication event

Enzyme Numbers (IUBMB) for SORD Gene

Phenotypes From GWAS Catalog for SORD Gene

Gene Ontology (GO) - Molecular Function for SORD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000721 (R,R)-butanediol dehydrogenase activity IEA --
GO:0003939 L-iditol 2-dehydrogenase activity ISS --
GO:0008270 zinc ion binding IEA,ISS --
GO:0016491 oxidoreductase activity IEA --
GO:0030246 carbohydrate binding NAS 12962626
genes like me logo Genes that share ontologies with SORD: view
genes like me logo Genes that share phenotypes with SORD: view

Animal Model Products

CRISPR Products

miRNA for SORD Gene

miRTarBase miRNAs that target SORD

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SORD

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SORD Gene

Localization for SORD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SORD Gene

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. {ECO:0000250 UniProtKB:Q64442}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SORD gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 2
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SORD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 6177277
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IDA,IEA 8487505
genes like me logo Genes that share ontologies with SORD: view

Pathways & Interactions for SORD Gene

genes like me logo Genes that share pathways with SORD: view

Gene Ontology (GO) - Biological Process for SORD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process TAS 14965227
GO:0006060 sorbitol metabolic process IEA --
GO:0006062 sorbitol catabolic process IDA 3365415
GO:0006970 response to osmotic stress IEA --
GO:0009725 response to hormone IEA --
genes like me logo Genes that share ontologies with SORD: view

No data available for SIGNOR curated interactions for SORD Gene

Drugs & Compounds for SORD Gene

(26) Drugs for SORD Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
Sorbitol Approved Pharma 64
Cp-166572, 2-Hydroxymethyl-4-(4-N,N-Dimethylaminosulfonyl-1-Piperazino)-Pyrimidine Experimental Pharma Target 0

(20) Additional Compounds for SORD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl-1-propanol
  • 2-Methylpropanol
  • I-butanol
  • I-butyl alcohol
78-83-1
L-Iditol
  • (2S,3R,4R,5S)-Hexane-1,2,3,4,5,6-hexol
  • L-Idit
  • Cordycepic acid
  • D-Dulcitol
  • D-Galactitol
488-45-9
genes like me logo Genes that share compounds with SORD: view

Transcripts for SORD Gene

mRNA/cDNA for SORD Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SORD

Alternative Splicing Database (ASD) splice patterns (SP) for SORD Gene

No ASD Table

Relevant External Links for SORD Gene

GeneLoc Exon Structure for
SORD

Expression for SORD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SORD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SORD Gene

This gene is overexpressed in Liver (x10.1), Prostate (x8.9), and Thyroid (x7.1).

Protein differential expression in normal tissues from HIPED for SORD Gene

This gene is overexpressed in Liver, secretome (18.7), Liver (10.7), Thyroid (8.0), and Nasal epithelium (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SORD Gene



Protein tissue co-expression partners for SORD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SORD

SOURCE GeneReport for Unigene cluster for SORD Gene:

Hs.878

mRNA Expression by UniProt/SwissProt for SORD Gene:

Q00796-DHSO_HUMAN
Tissue specificity: Expressed in liver (PubMed:3365415). Expressed in kidney and epithelial cells of both benign and malignant prostate tissue. Expressed in epididymis (at protein level).

Evidence on tissue expression from TISSUES for SORD Gene

  • Liver(4.8)
  • Nervous system(4.8)
  • Blood(4.4)
  • Kidney(3.5)
  • Thyroid gland(2.7)
  • Lung(2.4)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with SORD: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SORD Gene

Orthologs for SORD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SORD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SORD 31 30
  • 99.07 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SORD 31 30
  • 88.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SORD 31 30
  • 86.95 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sord 30
  • 82.63 (n)
mouse
(Mus musculus)
Mammalia Sord 17 31 30
  • 81.51 (n)
oppossum
(Monodelphis domestica)
Mammalia SORD 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SORD 31 30
  • 74.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sord 30
  • 72.49 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4026 30
zebrafish
(Danio rerio)
Actinopterygii sord 31
  • 76 (a)
OneToOne
LOC570613 30
  • 69.24 (n)
zgc63674 30
fruit fly
(Drosophila melanogaster)
Insecta Sodh-1 31 32 30
  • 60.17 (n)
OneToMany
Sodh-2 31 32
  • 54 (a)
OneToMany
CG4836 31 32
  • 8 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003584 30
  • 58.45 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_R04B5.5 30
  • 54.13 (n)
R04B5.5 31 32
  • 53 (a)
OneToMany
R04B5.6 31 32
  • 50 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR229C 30
  • 50.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SOR1 31 30
  • 49 (n)
OneToMany
SOR2 31
  • 41 (a)
OneToMany
XYL2 33 31
  • 40 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05511g 30
  • 48.51 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G51970 30
  • 52.79 (n)
rice
(Oryza sativa)
Liliopsida Os08g0545200 30
  • 50.43 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00891 30
  • 51.81 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tms1 30
  • 47.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Cin.15386 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15386 30
Species where no ortholog for SORD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SORD Gene

ENSEMBL:
Gene Tree for SORD (if available)
TreeFam:
Gene Tree for SORD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SORD: view image

Paralogs for SORD Gene

(2) SIMAP similar genes for SORD Gene using alignment to 4 proteins:

  • DHSO_HUMAN
  • B7Z3A6_HUMAN
  • H0YKB3_HUMAN
  • H0YLA4_HUMAN

Pseudogenes.org Pseudogenes for SORD Gene

genes like me logo Genes that share paralogs with SORD: view

Variants for SORD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SORD Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
768706 Benign: not provided 45,068,982(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
768707 Benign: not provided 45,073,526(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
776886 Benign: not provided 45,065,349(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1042079 - p.Gln239Leu
rs930337 - p.Asn269Thr

Additional dbSNP identifiers (rs#s) for SORD Gene

Structural Variations from Database of Genomic Variants (DGV) for SORD Gene

Variant ID Type Subtype PubMed ID
dgv1411e59 CNV duplication 20981092
dgv2590n100 CNV gain 25217958
dgv435n67 CNV gain 20364138
esv27178 CNV gain 19812545
esv2760029 CNV gain+loss 17122850
esv28190 CNV loss 19812545
esv3552387 CNV deletion 23714750
esv3581683 CNV loss 25503493
esv3636330 CNV loss 21293372
nsv1075903 CNV duplication 25765185
nsv1519 CNV insertion 18451855
nsv436698 OTHER inversion 17901297
nsv509570 CNV insertion 20534489
nsv569311 CNV gain 21841781
nsv7264 OTHER inversion 18451855
nsv820141 CNV gain 19587683
nsv827318 CNV gain 20364138
nsv9259 CNV gain 18304495
nsv9260 CNV loss 18304495
nsv9261 CNV loss 18304495
nsv977710 CNV duplication 23825009
nsv977711 CNV duplication 23825009

Variation tolerance for SORD Gene

Residual Variation Intolerance Score: 75.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.17; 87.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SORD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SORD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SORD Gene

Disorders for SORD Gene

MalaCards: The human disease database

(10) MalaCards diseases for SORD Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetic neuropathy
  • diabetic neuropathies
squamous cell papilloma
  • epidermoid papilloma
hyperglycemia
mature cataract
  • total or mature cataract
microvascular complications of diabetes 5
  • microvascular complications of diabetes, susceptibility to, 5
- elite association - COSMIC cancer census association via MalaCards
Search SORD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SORD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SORD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SORD Gene

Publications for SORD Gene

  1. Structural organization of the human sorbitol dehydrogenase gene (SORD). (PMID: 7782086) Iwata T … Carper D (Genomics 1995) 2 3 4 23 54
  2. Sorbitol dehydrogenase expression is regulated by androgens in the human prostate. (PMID: 20372835) Szabó Z … Vaarala MH (Oncology reports 2010) 3 4 23 54
  3. ZAC1 is up-regulated by hypertonicity and decreases sorbitol dehydrogenase expression, allowing accumulation of sorbitol in kidney cells. (PMID: 19423711) Lanaspa MA … Berl T (The Journal of biological chemistry 2009) 3 4 23 54
  4. Polyol pathway in human epididymis and semen. (PMID: 16278369) Frenette G … Sullivan R (Journal of andrology 2006) 3 4 23 54
  5. X-ray crystallographic and kinetic studies of human sorbitol dehydrogenase. (PMID: 12962626) Pauly TA … Rath VL (Structure (London, England : 1993) 2003) 3 4 23 54

Products for SORD Gene

Sources for SORD Gene