Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for SORD Gene
- HGNC: 11184
- NCBI Entrez Gene: 6652
- Ensembl: ENSG00000140263
- OMIM®: 182500
- UniProtKB/Swiss-Prot: Q00796
Previous GeneCards Identifiers for SORD Gene
- GC15P040873
- GC15P038362
- GC15P042894
- GC15P043031
- GC15P043102
- GC15P045315
- GC15P022139
Summaries 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 Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy and Diabetic Neuropathy. Among its related pathways are Glycosaminoglycan metabolism and 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).
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 Pubs
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 | 256.6 | +0.4 | 354 | 2.2 | IKZF1 ZNF600 SSRP1 ZNF580 ZNF592 POLR2A YY1 CTCF SMAD5 HES1 | SORD HMGN2P46 piR-33222 DUOX2 | |
| GH15J045023 | Promoter | 0.3 | Ensembl | 301.2 | -1.0 | -1046 | 0.2 | SORD piR-49156-010 TERB2 | ||
| GH15J045021 | Enhancer | 0.2 | ENCODE | 301.2 | -1.6 | -1649 | 0.1 | SORD piR-49156-010 TERB2 | ||
| GH15J045047 | Promoter/Enhancer | 1.5 | FANTOM5 Ensembl ENCODE | 31.5 | +25.8 | 25782 | 2.6 | MYC NCOR1 IKZF1 ZNF592 NFIC HES1 BHLHE40 MBD2 MNT ARNT | ENSG00000252171 SORD CTDSPL2 SPG11 SPATA5L1 ENSG00000259563 B2M LOC100422669 ENSG00000259418 DUOX2 | |
| GH15J044979 | Enhancer | 0.8 | Ensembl | 39.9 | -43.4 | -43371 | 0.8 | CEBPA FOXA2 KDM6A SMAD4 SAP130 MIER3 CREM FOXP1 BCL6 SOX5 | SORD DUOX1 DUOXA1 RF00026-344 RNU6-966P piR-32214-211 TERB2 HSALNG0105597 |
- 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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr15:45,023,147-45,077,185
- (GRCh38/hg38)
- Size:
- 54,039 bases
- Orientation:
- Plus strand
Previous Assembly
- chr15:45,315,393-45,369,383
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 53,991 bases
- Orientation:
- Plus strand
Genomic View for SORD Gene
Genes around SORD on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q21.1 by HGNC
- 15q21.1 by Entrez Gene
- 15q21.1 by Ensembl
SORD Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for SORD Gene
Selected DME Specific Peptides for SORD Gene
- Q00796:
-
- VVVTDLS
- MHSVGICGSDVHYW
- FEEGALIEPLSV
- FCYKLPD
- REVDIKGVFRYCNTWP
- RLENYPIPE
- PMVLGHE
Post-translational modifications for SORD Gene
Other Protein References for SORD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences SORD / Sorbitol Dehydrogenase Antibody
- G Biosciences Immunotag™ SORD Antibody
-
Custom Antibody ServicesOriGene Antibodies for SORD
- AM50068PU-N
- AM50068PU-S
- AP53985PU-N
- CF500677
- CF500683
- CF500701
- CF500702
- CF500747
- CF500748
- CF500749
- CF500784
- CF500785
- TA302618
- TA321558
- TA327281
- TA500677
- TA500677S
- TA500683
- TA500683S
- TA500701
- TA500701S
- TA500702
- TA500702S
- TA500747
- TA500747S
- TA500748
- TA500748S
- TA500749
- TA500749S
- TA500784
- TA500784S
- TA500785
- TA500785S
- Novus Biologicals Antibodies for SORD
-
Abcam antibodies for SORD
- Invitrogen Antibodies for SORD (AFLGC-SORD)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SORD
- Sino Biological Antibodies for SORD
Protein products for research
- G Biosciences Human Sorbitol dehydrogenase/SORD, Liquid
- Search Origene for MassSpec and Protein Over-expression Lysates for SORD
- Origene Custom Protein Services for SORD
- ProSpec Recombinant Proteins for SORD
-
ProSci Proteins for SORD
-
Abcam proteins for SORD
Assay products for research
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
- InterPro:
- Blocks:
-
- Alcohol dehydrogenase GroES-like
- Zinc-containing alcohol dehydrogenase
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- Family:
-
- Belongs to the zinc-containing alcohol dehydrogenase family.
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={ECO:0000269|PubMed:12962626, ECO:0000269|PubMed:3365415};.
- 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={ECO:0000269|PubMed:3365415};.
- 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={ECO:0000269|PubMed:3365415};.
- 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={ECO:0000269|PubMed:3365415};.
- 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={ECO:0000269|PubMed:3365415};.
- 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={ECO:0000250|UniProtKB:P07846};.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by androgens and down-regulated by castration.
- 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 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).
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000721 | (R,R)-butanediol dehydrogenase activity | IEA | -- |
| GO:0003939 | L-iditol 2-dehydrogenase activity | IMP,ISS | -- |
| GO:0008270 | zinc ion binding | IEA,ISS | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0030246 | carbohydrate binding | NAS | 12962626 |
Phenotypes for SORD Gene
- MGI mutant phenotypes for SORD:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SORD:
-
- Decreased NF-kappaB reporter expression
- Increased G1 DNA content
- Decreased viability
- Decreased shRNA abundance
- shRNA abundance <= 25%
- no effect
- Decreased viability ratio
- Decreased viability after Maraba virus infection
- Decreased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SORD - Starting at $85 >
- * SORD CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SORD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SORD
-
Santa Cruz Biotechnology (SCBT) CRISPR for SORD
miRNA for SORD Gene
- miRTarBase miRNAs that target SORD
-
- hsa-miR-98-5p (MIRT027448)
- hsa-miR-484 (MIRT042343)
- hsa-miR-10a-5p (MIRT047657)
- hsa-miR-6836-3p (MIRT615940)
- hsa-miR-378a-5p (MIRT615941)
- hsa-miR-6749-3p (MIRT615942)
- hsa-miR-6829-3p (MIRT615943)
- hsa-miR-6791-3p (MIRT615944)
- hsa-miR-6778-3p (MIRT615945)
- hsa-miR-345-5p (MIRT615946)
- hsa-miR-3653-5p (MIRT615947)
- hsa-miR-4469 (MIRT615948)
- hsa-miR-6747-3p (MIRT615949)
- hsa-miR-6727-3p (MIRT615950)
- hsa-miR-4722-3p (MIRT615951)
- hsa-miR-660-3p (MIRT615952)
- hsa-miR-5193 (MIRT615953)
- hsa-miR-4667-3p (MIRT615954)
- hsa-miR-1470 (MIRT615955)
- hsa-miR-6514-3p (MIRT630215)
- hsa-miR-6862-5p (MIRT630216)
- hsa-miR-4253 (MIRT630217)
- hsa-miR-3945 (MIRT630218)
- hsa-miR-24-3p (MIRT630219)
- hsa-miR-4284 (MIRT630220)
- hsa-miR-3622b-5p (MIRT630221)
- hsa-miR-6847-3p (MIRT630222)
- hsa-miR-6811-3p (MIRT630223)
- hsa-miR-214-5p (MIRT630224)
- hsa-miR-6860 (MIRT630225)
- hsa-miR-612 (MIRT630226)
- hsa-miR-5189-5p (MIRT630227)
- hsa-miR-3187-5p (MIRT630228)
- hsa-miR-1285-3p (MIRT630229)
- hsa-miR-4264 (MIRT630230)
- hsa-miR-4797-3p (MIRT630231)
- hsa-miR-152-3p (MIRT630232)
- hsa-miR-148b-3p (MIRT630233)
- hsa-miR-148a-3p (MIRT630234)
- hsa-miR-520f-3p (MIRT630235)
- hsa-miR-302c-3p (MIRT630236)
- hsa-miR-216b-5p (MIRT630237)
- hsa-miR-216a-5p (MIRT630238)
- hsa-miR-6873-3p (MIRT653245)
- hsa-miR-9-3p (MIRT653246)
- hsa-miR-7162-5p (MIRT653247)
- hsa-miR-516b-3p (MIRT653248)
- hsa-miR-516a-3p (MIRT653249)
- hsa-miR-942-5p (MIRT653250)
- hsa-miR-302a-5p (MIRT653251)
- hsa-miR-6817-3p (MIRT653252)
- hsa-miR-7110-3p (MIRT653253)
- hsa-miR-1248 (MIRT653254)
- hsa-miR-1237-3p (MIRT653255)
- hsa-miR-483-3p (MIRT653256)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SORD
- Browse OriGene Inhibitory RNA Products For SORD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SORD
Clone products for research
- Applied Biological Materials (abm): Clones for SORD - Starting at $45 >
- * SORD as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SORD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SORD
Cell Lines for research
-
Horizon Cell Lines for SORD
No data available for 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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| mitochondrion | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| 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 | IEA,IDA | 8487505 |
Pathways & Interactions for SORD Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fructose metabolism |
.01
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Pentose and glucuronate interconversions | ||
| 4 | Fructose and mannose metabolism | ||
| 5 | Glycosaminoglycan metabolism | ||
Pathways by source for SORD Gene
2 BioSystems pathways for SORD Gene
5 Reactome pathways for SORD Gene
3 KEGG pathways for SORD Gene
Interacting Proteins for SORD Gene
Selected Interacting proteins:
Q00796-DHSO_HUMAN
ENSP00000267814
for SORD Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SORD
| 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 | IMP | 32367058 |
| GO:0006970 | response to osmotic stress | IEA | -- |
| GO:0009725 | response to hormone | IEA | -- |
No data available for SIGNOR curated interactions for SORD Gene
Drugs & Compounds for SORD Gene
| 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 | Pharma | 0 | |||
| Sorbitol | Approved | Pharma | 74 | |||
| Cp-166572, 2-Hydroxymethyl-4-(4-N,N-Dimethylaminosulfonyl-1-Piperazino)-Pyrimidine | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1-Hexanol |
|
111-27-3 |
|
|||
| 1-Pentanol |
|
71-41-0 |
|
|||
| D-Fructose |
|
53188-23-1 |
|
|||
| Hydrogen Ion |
|
|
||||
| Isobutanol |
|
78-83-1 |
|
Drug products for research
- G Biosciences Human Sorbitol dehydrogenase/SORD, Liquid
Transcripts for SORD Gene
mRNA/cDNA for SORD Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000267814 4818 nts (view in UCSC)
- ENST00000558574 7052 nts (view in UCSC)
- ENST00000558580 1395 nts (view in UCSC)
- ENST00000558789 1553 nts (view in UCSC)
- ENST00000559230 1502 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SORD - Starting at $85 >
- * SORD CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SORD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SORD
-
Santa Cruz Biotechnology (SCBT) CRISPR for SORD
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SORD
- Browse OriGene Inhibitory RNA Products For SORD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SORD
Clone products for research
- Applied Biological Materials (abm): Clones for SORD - Starting at $45 >
- * SORD as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SORD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SORD
Relevant External Links for SORD Gene
- GeneLoc Exon Structure for
- SORD
Expression for SORD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Loop of Henle Cells Loop of Henle
- Proximal Tubule Cells Proximal Tubule
- Loop of Henle
- Proximal Tubule
- Epithelial Tubule
-
Epithelial Cells
- Loop of Henle Cells Loop of Henle
- Proximal Tubule Cells Proximal Tubule
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Prostate (Endocrine System)
-
Thyroid (Endocrine System)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SORD
SOURCE GeneReport for Unigene cluster for SORD Gene:
Hs.878mRNA 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
- Nervous system(4.9)
- Liver(4.8)
- Blood(4.5)
- Kidney(3.7)
- Thyroid gland(3.1)
- Stomach(2.8)
- Lung(2.6)
- Intestine(2.5)
- Eye(2.5)
- Heart(2.4)
- Skin(2.3)
- Adrenal gland(2.1)
- Muscle(2)
Primer products for research
-
OriGene qPCR primer pairs for SORD
-
OriGene qPCR primer pairs and template standards for SORD
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SORD 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | SORD 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SORD 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sord 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Sord 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SORD 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SORD 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sord 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4026 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sord 30 |
|
OneToOne | |
| LOC570613 29 |
|
||||
| zgc63674 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sodh-1 29 30 31 |
|
OneToMany | |
| Sodh-2 30 31 |
|
OneToMany | |||
| CG4836 30 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003584 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_R04B5.5 29 |
|
||
| R04B5.5 30 31 |
|
OneToMany | |||
| R04B5.6 30 31 |
|
OneToMany | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR229C 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SOR1 29 30 |
|
OneToMany | |
| SOR2 30 |
|
OneToMany | |||
| XYL2 30 32 |
|
OneToMany | |||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D05511g 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G51970 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0545200 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU00891 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tms1 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.15386 29 |
|
- 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
- Alliance of Genome Resources:
- Additional Orthologs for SORD
Paralogs for SORD Gene
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
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 |
|---|---|---|---|---|---|
| 1012844 | Likely Benign: not provided | 45,061,173(+) |
C/T NM_003104.6(SORD):c.372C>T (p.Pro124=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| 1012845 | Likely Benign: not provided | 45,061,179(+) |
C/T NM_003104.6(SORD):c.378C>T (p.Asp126=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| 1012846 | Likely Pathogenic: not provided | 45,065,303(+) |
C/A NM_003104.6(SORD):c.458C>A (p.Ala153Asp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 929257 | Pathogenic: Sorbitol dehydrogenase deficiency with peripheral neuropathy | 45,072,425(+) |
C/T NM_003104.6(SORD):c.895C>T (p.Arg299Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
| 929258 | Pathogenic: Sorbitol dehydrogenase deficiency with peripheral neuropathy; Inborn genetic diseases; not provided | 45,069,018(+) |
CG/C NM_003104.6(SORD):c.757del (p.Ala253fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SORD Gene
Disorders for SORD Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sorbitol dehydrogenase deficiency with peripheral neuropathy |
|
|
| diabetic neuropathy |
|
|
| neuropathy |
|
|
| squamous cell papilloma |
|
|
| drug-induced hepatitis |
|
|
Search SORD in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SORD
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SORD Gene
Publications for SORD Gene
- Structural organization of the human sorbitol dehydrogenase gene (SORD). (PMID: 7782086) Iwata T … Carper D (Genomics 1995) 2 3 4 22
- Sorbitol dehydrogenase expression is regulated by androgens in the human prostate. (PMID: 20372835) Szabó Z … Vaarala MH (Oncology reports 2010) 3 4 22
- 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 22
- Polyol pathway in human epididymis and semen. (PMID: 16278369) Frenette G … Sullivan R (Journal of andrology 2006) 3 4 22
- X-ray crystallographic and kinetic studies of human sorbitol dehydrogenase. (PMID: 12962626) Pauly TA … Rath VL (Structure (London, England : 1993) 2003) 3 4 22
ExternalLinks
Products for SORD Gene
- Custom Antibody ServicesOriGene Antibodies for SORD
- AM50068PU-N
- AM50068PU-S
- AP53985PU-N
- CF500677
- CF500683
- CF500701
- CF500702
- CF500747
- CF500748
- CF500749
- CF500784
- CF500785
- TA302618
- TA321558
- TA327281
- TA500677
- TA500677S
- TA500683
- TA500683S
- TA500701
- TA500701S
- TA500702
- TA500702S
- TA500747
- TA500747S
- TA500748
- TA500748S
- TA500749
- TA500749S
- TA500784
- TA500784S
- TA500785
- TA500785S
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SORD
- Origene Custom Protein Services for SORD
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SORD
- Browse OriGene Inhibitory RNA Products For SORD
- OriGene qPCR primer pairs for SORD
- OriGene qPCR primer pairs and template standards for SORD
- OriGene CRISPR knockouts for SORD
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SORD
- Sino Biological Human cDNA Clone for SORD
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for SORD
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SORD
- Novus Biologicals proteins and lysates for SORD
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SORD
- Abcam proteins for SORD
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for SORD (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SORD (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SORD (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SORD CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SORD
- antibodies-online: Show 41 available SORD Antibodies ranked by validation data
- Compare Top SORD Antibodies
- antibodies-online: Show 46 available SORD Elisa Kits ranked by validation data
- Compare Top SORD Elisa Kits
- Quality Products:
- antibodies-online: Show 26 available SORD Proteins ranked by validation data
- Compare Top SORD Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SORD
- Search Santa Cruz Biotechnology (SCBT) for SORD siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SORD
- Custom Antibody ServicesProSci Antibodies for SORD
- ProSci Proteins for SORD
- Horizon Cell Lines for SORD
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SORD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SORD
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SORD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SORD
Sources for SORD Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources