Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6652
Gene name Gene Name - the full gene name approved by the HGNC.
Sorbitol dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SORD
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-95n, HMNR8, RDH, SDH, SORD1, SORDD, XDH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HMNR8
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1
Summary Summary of gene provided in NCBI Entrez 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 de
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027448 hsa-miR-98-5p Microarray 19088304
MIRT047657 hsa-miR-10a-5p CLASH 23622248
MIRT042343 hsa-miR-484 CLASH 23622248
MIRT653256 hsa-miR-483-3p HITS-CLIP 23824327
MIRT653255 hsa-miR-1237-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000721 Function (R,R)-butanediol dehydrogenase activity IEA
GO:0003939 Function L-iditol 2-dehydrogenase activity IBA 21873635
GO:0003939 Function L-iditol 2-dehydrogenase activity IDA 3365415, 6870831, 8487505
GO:0003939 Function L-iditol 2-dehydrogenase activity IMP 32367058
GO:0003939 Function L-iditol 2-dehydrogenase activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
182500 11184 ENSG00000140263
Protein
UniProt ID Q00796
Protein name Sorbitol dehydrogenase (SDH) (EC 1.1.1.-) ((R,R)-butanediol dehydrogenase) (EC 1.1.1.4) (L-iditol 2-dehydrogenase) (EC 1.1.1.14) (Polyol dehydrogenase) (Ribitol dehydrogenase) (RDH) (EC 1.1.1.56) (Xylitol dehydrogenase) (XDH) (EC 1.1.1.9)
Protein 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
PDB 1PL6 , 1PL7 , 1PL8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08240 ADH_N 32 143 Alcohol dehydrogenase GroES-like domain Domain
PF00107 ADH_zinc_N 183 313 Zinc-binding dehydrogenase Family
Tissue specificity 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). {ECO:0000269|PubMed:16278369, ECO:0000269|PubMed:19423711, ECO:0000
Sequence
Sequence length 357
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pentose and glucuronate interconversions
Fructose and mannose metabolism
Metabolic pathways
  Fructose biosynthesis
Formation of xylulose-5-phosphate
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Stimulate 24567419
Carcinoma Hepatocellular Associate 31272500
Celiac Disease Associate 27650971
Charcot Marie Tooth Disease Associate 33314640
Charcot Marie Tooth disease Type 2B Associate 33314640
Colorectal Neoplasms Associate 24567419
Coronary Artery Disease Associate 36743388
Diabetes Mellitus Type 2 Stimulate 36749929
Diabetic Neuropathies Associate 35436891
Diabetic Retinopathy Associate 31539366