RDH12 (retinol dehydrogenase 12)

2015-02-01  

Identity

HGNC
RDH12
LOCATION
14q24.1
LOCUSID
145226
ALIAS
LCA13,RP53,SDR7C2

Other Information

Locus ID:

NCBI: 145226
MIM: 608830
HGNC: 19977
Ensembl: ENSG00000139988

Variants:

dbSNP: 145226
ClinVar: 145226
TCGA: ENSG00000139988
COSMIC: RDH12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139988ENST00000267502Q96NR8
ENSG00000139988ENST00000267502A0A0S2Z613
ENSG00000139988ENST00000551171Q96NR8
ENSG00000139988ENST00000551171A0A0S2Z613

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
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

References

Pubmed IDYearTitleCitations
152585822004Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.92
153229822004Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.71
153229822004Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.71
158654482005Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.45
171975512007RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.34
205914862010Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.22
187794972008Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.21
229266832012The autophagy protein LC3A correlates with hypoxia and is a prognostic marker of patient survival in clear cell ovarian cancer.21
175129642007Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.20
196868382010Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.20

Citation

Dessen P

RDH12 (retinol dehydrogenase 12)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55050/rdh12