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
377144312024Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.1
377144312024Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.1
366904272023Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.1
366904272023Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.1
350064992022Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.3
359942522022Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.6
350064992022Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.3
359942522022Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.6
339707602021Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.5
340018342021ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.3
342169802021Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.1
343153372021Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.2
344455692021Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.8
339707602021Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.5
340018342021ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.3

Citation

Dessen P

RDH12 (retinol dehydrogenase 12)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55050/js/welcome