SORD (sorbitol dehydrogenase)

2010-08-01  

Identity

HGNC
SORD
LOCATION
15q21.1
LOCUSID
6652
ALIAS
HEL-S-95n,RDH,SDH,SORD1,SORDD,XDH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6652
MIM: 182500
HGNC: 11184
Ensembl: ENSG00000140263

Variants:

dbSNP: 6652
ClinVar: 6652
TCGA: ENSG00000140263
COSMIC: SORD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140263ENST00000267814Q00796
ENSG00000140263ENST00000558789Q00796
ENSG00000140263ENST00000559230H0YKB3

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Pentose and glucuronate interconversionsKEGGko00040
Fructose and mannose metabolismKEGGko00051
Pentose and glucuronate interconversionsKEGGhsa00040
Fructose and mannose metabolismKEGGhsa00051
Metabolic pathwaysKEGGhsa01100
Glucuronate pathway (uronate pathway)KEGGM00014
Glucuronate pathway (uronate pathway)KEGGhsa_M00014
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Fructose metabolismREACTOMER-HSA-5652084
Fructose biosynthesisREACTOMER-HSA-5652227
Catabolism of glucuronate to xylulose-5-phosphateREACTOMER-HSA-5661270

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374181122024Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.0
374181122024Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.0
375842012023Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.1
375842012023Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.1
354368912022Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.2
354368912022Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.2
333146402021Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.12
338756782021Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.6
333146402021Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.12
338756782021Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.6
315393662019Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese.8
315393662019Polymorphisms in Sorbitol-Aldose Reductase (Polyol) Pathway Genes and Their Influence on Risk of Diabetic Retinopathy Among Han Chinese.8
276280632016Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5.9
276280632016Osmotic expression of aldose reductase in retinal pigment epithelial cells: involvement of NFAT5.9
245674192014Sorbitol dehydrogenase overexpression and other aspects of dysregulated protein expression in human precancerous colorectal neoplasms: a quantitative proteomics study.21

Citation

Dessen P

SORD (sorbitol dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51608/js/meetings/haematological-explorer/