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Rdh12 Gene Detail
Summary
  • Symbol
    Rdh12
  • Name
    retinol dehydrogenase 12
  • Synonyms
    A930033N07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1925224
    NCBI Gene: 77974
  • Gene Overview
    MyGene.info: RDH12
Location & Maps
more
  • Sequence Map
    Chr12:79208914-79222665 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13752 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    RDH12, retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RDH12, retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
    Orthology source: HomoloGene
  • Synonyms
    LCA13, RP53, SDR7C2
  • Links
    NCBI Gene ID: 145226
    neXtProt AC: NX_Q96NR8

  • Chr Location
    14q24.1; chr14:67701886-67734451 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human RDH12 associations

Human Disease Mouse Models
       Leber Congenital Amaurosis 13; LCA13   OMIM: 612712
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Rdh12
  • Incidental Mutations
Deletion of this gene in mice results in slowed kinetics of all-trans-retinal reduction leading to delayed dark adaptation and increased susceptibility to light-induced photoreceptor apoptosis from accelerated 11-cis-retinal production.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027652 VEGA Gene Model | MGI Sequence Detail 13752 C57BL/6J ±  kb
transcript OTTMUST00000068427 VEGA | MGI Sequence Detail 1678 Not Applicable  
polypeptide OTTMUSP00000034596 VEGA | MGI Sequence Detail 316 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    83 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 37
    cDNA 37

    Microarray probesets 4
References
more
  • Summaries
    All 38
    Developmental Gene Expression 6
    Gene Ontology 4
    Phenotypes 12
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:190746 Osuala K, et al., Physiological and genomic consequences of adrenergic deficiency during embryonic/fetal development in mice: impact on retinoic acid metabolism. Physiol Genomics. 2012 Oct 2;44(19):934-47

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory