RDH5 (retinol dehydrogenase 5)

2014-11-01  

Identity

HGNC
RDH5
LOCATION
12q13.2
LOCUSID
5959
ALIAS
9cRDH,HSD17B9,RDH1,SDR9C5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5959
MIM: 601617
HGNC: 9940
Ensembl: ENSG00000135437

Variants:

dbSNP: 5959
ClinVar: 5959
TCGA: ENSG00000135437
COSMIC: RDH5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135437ENST00000257895Q92781
ENSG00000135437ENST00000257895A0A024RB18
ENSG00000135437ENST00000547072F8VVC7
ENSG00000135437ENST00000548082Q92781
ENSG00000135437ENST00000548082A0A024RB18
ENSG00000135437ENST00000548123H0YHP7
ENSG00000135437ENST00000552930F8VUB9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
Signaling by Retinoic AcidREACTOMER-HSA-5362517
RA biosynthesis pathwayREACTOMER-HSA-5365859

References

Pubmed IDYearTitleCitations
127328442003A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.20
215299592011Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).14
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
208297432010Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.9
129678262003A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.8
242465742014Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.8
268760132016Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium.8
226692872012Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.7
227369462012Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.6
166378472006Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.5

Citation

Dessen P

RDH5 (retinol dehydrogenase 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72565/rdh5