Gene Gene information from NCBI Gene database.
Entrez ID 6652
Gene name Sorbitol dehydrogenase
Gene symbol SORD
Synonyms (NCBI Gene)
HEL-S-95nHMNR8RDHSDHSORD1SORDDXDH
Chromosome 15
Chromosome location 15q21.1
Summary 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.
483
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000721 Function (R,R)-butanediol dehydrogenase activity IEA
GO:0003939 Function L-iditol 2-dehydrogenase (NAD+) activity IBA
GO:0003939 Function L-iditol 2-dehydrogenase (NAD+) activity IDA 3365415, 6870831, 8487505
GO:0003939 Function L-iditol 2-dehydrogenase (NAD+) activity IEA
GO:0003939 Function L-iditol 2-dehydrogenase (NAD+) activity IMP 32367058
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
182500 11184 ENSG00000140263
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Idiopathic environmental intolerance Likely pathogenic; Pathogenic rs55901542 RCV002468945
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease Likely pathogenic; Pathogenic rs55901542 RCV004017799
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal recessive 8 Likely pathogenic; Pathogenic rs925016698, rs746985755, rs765674420, rs2504718500, rs2504702178, rs1267443415, rs55901542, rs145813597 RCV002471542
RCV003152297
RCV003152298
RCV003152299
RCV003881721
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE CTD, ClinGen, Disgenet, GenCC
CTD, ClinGen, Disgenet, GenCC
CTD, ClinGen, Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 24567419
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 14974914, 16288654, 16357557, 16954163, 17102078, 17525480, 18726616, 18978332, 19145771, 19522823, 19550080, 19576851, 19802898, 19915015, 20236688
View all (19 more)
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 28819017
★☆☆☆☆
Found in Text Mining only
Amaurosis congenita of Leber, type 1 Leber congenital amaurosis BEFREE 15322982
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 28819017
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 16600798
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31272500 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 16600798
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 20551992, 22972948
★☆☆☆☆
Found in Text Mining only
Carney Triad Carney Triad BEFREE 25622899, 28739378
★☆☆☆☆
Found in Text Mining only