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Aliases for RDH12 Gene

Aliases for RDH12 Gene

  • Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis) 2 3
  • Short Chain Dehydrogenase/Reductase Family 7C Member 2 3 4
  • All-Trans And 9-Cis Retinol Dehydrogenase 3 4
  • SDR7C2 3 4
  • LCA13 3 6
  • Short Chain Dehydrogenase/Reductase Family 7C, Member 2 3
  • Retinol Dehydrogenase 12 (All-Trans And 9-Cis) 2
  • Short Chain Dehydrogenase/Reductase Family 7C 2
  • Retinol Dehydrogenase 12, All-Trans And 9-Cis 3
  • Retinol Dehydrogenase 12 3
  • EC 1.1.1.100 63
  • EC 1.1.1.- 4
  • Member 2 2
  • EC 1.1.1 63
  • LCA3 3
  • RP53 3

External Ids for RDH12 Gene

Previous GeneCards Identifiers for RDH12 Gene

  • GC14P061982
  • GC14P066177
  • GC14P066179
  • GC14P067258
  • GC14P068168
  • GC14P048338

Summaries for RDH12 Gene

Entrez Gene Summary for RDH12 Gene

  • The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008]

GeneCards Summary for RDH12 Gene

RDH12 (Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)) is a Protein Coding gene. Diseases associated with RDH12 include leber congenital amaurosis 13 and rdh12-related leber congenital amaurosis. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include retinol dehydrogenase activity. An important paralog of this gene is DHRS12.

UniProtKB/Swiss-Prot for RDH12 Gene

  • Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.

Gene Wiki entry for RDH12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDH12 Gene

Genomics for RDH12 Gene

Regulatory Elements for RDH12 Gene

Genomic Location for RDH12 Gene

Start:
67,701,886 bp from pter
End:
67,734,452 bp from pter
Size:
32,567 bases
Orientation:
Plus strand

Genomic View for RDH12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RDH12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDH12 Gene

Proteins for RDH12 Gene

  • Protein details for RDH12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NR8-RDH12_HUMAN
    Recommended name:
    Retinol dehydrogenase 12
    Protein Accession:
    Q96NR8
    Secondary Accessions:
    • B2RDA2
    • Q8TAW6

    Protein attributes for RDH12 Gene

    Size:
    316 amino acids
    Molecular mass:
    35094 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RDH12 Gene

Proteomics data for RDH12 Gene at MOPED

Selected DME Specific Peptides for RDH12 Gene

Post-translational modifications for RDH12 Gene

  • Ubiquitination at Lys103
  • Modification sites at PhosphoSitePlus

Other Protein References for RDH12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for RDH12 Gene

Gene Families for RDH12 Gene

HGNC:
  • SDRC2 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

Suggested Antigen Peptide Sequences for RDH12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96NR8

UniProtKB/Swiss-Prot:

RDH12_HUMAN :
  • Q96NR8
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with RDH12: view

Function for RDH12 Gene

Molecular function for RDH12 Gene

UniProtKB/Swiss-Prot Function: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.

Enzyme Numbers (IUBMB) for RDH12 Gene

Gene Ontology (GO) - Molecular Function for RDH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004745 retinol dehydrogenase activity IDA 12226107
GO:0005515 protein binding IPI 20006610
GO:0016491 oxidoreductase activity --
GO:0050662 coenzyme binding --
genes like me logo Genes that share ontologies with RDH12: view

Phenotypes for RDH12 Gene

genes like me logo Genes that share phenotypes with RDH12: view

Animal Models for RDH12 Gene

MGI Knock Outs for RDH12:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RDH12

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for RDH12 Gene

Localization for RDH12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RDH12 Gene COMPARTMENTS Subcellular localization image for RDH12 gene
Compartment Confidence
extracellular 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RDH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 12226107
GO:0060342 photoreceptor inner segment membrane TAS --
genes like me logo Genes that share ontologies with RDH12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RDH12 Gene

Pathways for RDH12 Gene

genes like me logo Genes that share pathways with RDH12: view

Pathways by source for RDH12 Gene

Gene Ontology (GO) - Biological Process for RDH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007601 visual perception TAS 12226107
GO:0007603 phototransduction, visible light TAS --
GO:0008152 metabolic process --
GO:0042572 retinol metabolic process IDA 12226107
genes like me logo Genes that share ontologies with RDH12: view

Compounds for RDH12 Gene

(1) HMDB Compounds for RDH12 Gene

Compound Synonyms Cas Number PubMed IDs
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(1) Drugbank Compounds for RDH12 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(1) Novoseek inferred chemical compound relationships for RDH12 Gene

Compound -log(P) Hits PubMed IDs
vitamin a 73.1 17
genes like me logo Genes that share compounds with RDH12: view

Transcripts for RDH12 Gene

mRNA/cDNA for RDH12 Gene

Unigene Clusters for RDH12 Gene

Retinol dehydrogenase 12 (all-trans/9-cis/11-cis):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RDH12

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RDH12 Gene

No ASD Table

Relevant External Links for RDH12 Gene

GeneLoc Exon Structure for
RDH12
ECgene alternative splicing isoforms for
RDH12

Expression for RDH12 Gene

mRNA expression in normal human tissues for RDH12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RDH12 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (15.5), Skin - Not Sun Exposed (Suprapubic) (13.3), Esophagus - Mucosa (6.6), and Vagina (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RDH12 Gene

SOURCE GeneReport for Unigene cluster for RDH12 Gene Hs.415322

mRNA Expression by UniProt/SwissProt for RDH12 Gene

Q96NR8-RDH12_HUMAN
Tissue specificity: Widely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach
genes like me logo Genes that share expressions with RDH12: view

In Situ Assay Products

Orthologs for RDH12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RDH12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RDH12 35
  • 99.58 (n)
  • 100 (a)
RDH12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RDH12 35
  • 88.4 (n)
  • 90.51 (a)
RDH12 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RDH12 35
  • 91.24 (n)
  • 92.72 (a)
RDH12 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rdh12 35
  • 83.23 (n)
  • 86.39 (a)
Rdh12 16
Rdh12 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RDH12 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RDH12 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rdh12 35
  • 84.49 (n)
  • 86.71 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 66 (a)
OneToMany
RDH12 35
  • 67.95 (n)
  • 68.91 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
ManyToMany
-- 36
  • 66 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rdh12 35
  • 61.5 (n)
  • 63.7 (a)
rdh12 36
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007572 35
  • 55.81 (n)
  • 55.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2064 36
  • 47 (a)
ManyToMany
CG2065 36
  • 52 (a)
ManyToMany
CG2070 36
  • 51 (a)
ManyToMany
CG30491 36
  • 48 (a)
ManyToMany
CG30495 36
  • 47 (a)
ManyToMany
CG3842 36
  • 39 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL089W 35
  • 51.54 (n)
  • 39.92 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 38
ENV9 35
  • 42.96 (n)
  • 35.56 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06127g 35
  • 44.99 (n)
  • 36.63 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G23420 35
  • 45.1 (n)
  • 38.24 (a)
rice
(Oryza sativa)
Liliopsida Os09g0570300 35
  • 49.94 (n)
  • 42.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.13 35
  • 45.53 (n)
  • 38.41 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1180 35
Species with no ortholog for RDH12:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RDH12 Gene

ENSEMBL:
Gene Tree for RDH12 (if available)
TreeFam:
Gene Tree for RDH12 (if available)

Paralogs for RDH12 Gene

Paralogs for RDH12 Gene

Selected SIMAP similar genes for RDH12 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RDH12: view

Variants for RDH12 Gene

Sequence variations from dbSNP and Humsavar for RDH12 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs722567 -- 67,715,221(+) AAAAA(A/T)AAAAG intron-variant
rs1117516 -- 67,706,177(+) acagg(C/T)gctga intron-variant
rs1120877 -- 67,712,826(+) ttggc(A/G)gctag intron-variant
rs1555193 -- 67,718,719(+) CCAGA(C/T)TGAAA intron-variant
rs1955472 -- 67,710,313(+) atgta(A/G)taacc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RDH12 Gene

Variant ID Type Subtype PubMed ID
nsv902068 CNV Gain 21882294
nsv521832 CNV Loss 19592680
esv2661248 CNV Deletion 23128226

Relevant External Links for RDH12 Gene

HapMap Linkage Disequilibrium report
RDH12
Human Gene Mutation Database (HGMD)
RDH12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDH12 Gene

Disorders for RDH12 Gene

(1) OMIM Diseases for RDH12 Gene (608830)

UniProtKB/Swiss-Prot

RDH12_HUMAN
  • Leber congenital amaurosis 13 (LCA13) [MIM:612712]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:15258582, ECO:0000269 PubMed:15322982}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 53 (RP53) [MIM:612712]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:19140180, ECO:0000269 PubMed:19956407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for RDH12 Gene

(2) Novoseek inferred disease relationships for RDH12 Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 96.9 6
retinitis pigmentosa 74.9 4

Relevant External Links for RDH12

GeneTests
RDH12
GeneReviews
RDH12
Genetic Association Database (GAD)
RDH12
Human Genome Epidemiology (HuGE) Navigator
RDH12
genes like me logo Genes that share disorders with RDH12: view

Publications for RDH12 Gene

  1. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. (PMID: 15322982) Perrault I. … Rozet J.-M. (Am. J. Hum. Genet. 2004) 3 4 23 48
  2. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P. … Stone E.M. (Mol. Vis. 2009) 3 23 48
  3. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PMID: 12226107) Haeseleer F. … Palczewski K. (J. Biol. Chem. 2002) 2 3 4
  4. Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations. (PMID: 19011012) Valverde D. … Baiget M. (Invest. Ophthalmol. Vis. Sci. 2009) 3 23
  5. Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates. (PMID: 20006610) Lee S.A. … Kedishvili N.Y. (FEBS Lett. 2010) 3 23

Products for RDH12 Gene

Sources for RDH12 Gene

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