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Aliases for RDH12 Gene

Aliases for RDH12 Gene

  • Retinol Dehydrogenase 12 2 3 3
  • Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis) 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 7C Member 2 3 4
  • All-Trans And 9-Cis Retinol Dehydrogenase 3 4
  • SDR7C2 3 4
  • Short Chain Dehydrogenase/Reductase Family 7C, Member 2 2
  • Retinol Dehydrogenase 12 (All-Trans And 9-Cis) 2
  • Retinol Dehydrogenase 12, All-Trans And 9-Cis 3
  • EC 1.1.1.- 4
  • LCA13 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 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]

GeneCards Summary for RDH12 Gene

RDH12 (Retinol Dehydrogenase 12) is a Protein Coding gene. Diseases associated with RDH12 include Leber Congenital Amaurosis 13 and Retinitis Pigmentosa. Among its related pathways are Drug metabolism - cytochrome P450 and Vitamin A and Carotenoid Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH11.

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

Additional gene information for RDH12 Gene

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

Genomics for RDH12 Gene

GeneHancer (GH) Regulatory Elements for RDH12 Gene

Promoters and enhancers for RDH12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J067721 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 650.3 +20.5 20466 0.9 IRF2 AFF1 SUZ12 SAP130 HCFC1 MAFG SIX5 ETS1 MAFF ZNF316 RDH12 ARG2 ENSG00000201529 PIGH VTI1B RPL21P9 ENSG00000271697
GH14J067700 Enhancer 0.9 Ensembl ENCODE 650.7 -1.1 -1085 0.4 TAF9B ZNF384 RARA FOSL1 ZNF316 NFE2 FOSL2 FOS TRIM24 KLF8 RDH12 RDH11
GH14J067701 Promoter 0.5 EPDnew 650.7 0.0 -19 0.1 RDH12 RDH11
GH14J067673 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.7 -27.3 -27294 2.5 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF766 ZNF207 VTI1B PIGH RDH11 RDH12 RN7SL369P ZFYVE26 ARG2 EIF2S1 ENSG00000258466 GC14M067658
GH14J067679 Enhancer 1.1 Ensembl ENCODE 17.6 -21.3 -21337 1.9 ATF1 IRF4 TCF12 ZFP91 FOS ATF7 RUNX3 JUNB NCOA1 ZNF592 RDH12 RN7SL369P PIGH PLEKHH1 ARG2 ENSG00000258466 GC14P067688 VTI1B RDH11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RDH12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RDH12 gene promoter:
  • Arnt
  • AREB6
  • MyoD
  • TBP
  • ITF-2
  • Tal-1beta
  • c-Myb
  • NF-AT
  • NF-AT1

Genomic Locations for RDH12 Gene

Genomic Locations for RDH12 Gene
chr14:67,701,886-67,734,452
(GRCh38/hg38)
Size:
32,567 bases
Orientation:
Plus strand
chr14:68,168,603-68,201,169
(GRCh37/hg19)
Size:
32,567 bases
Orientation:
Plus strand

Genomic View for RDH12 Gene

Genes around RDH12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDH12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for RDH12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RDH12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RDH12 Gene

Domains & Families for RDH12 Gene

Gene Families for RDH12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

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 :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
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:0004745 retinol dehydrogenase activity IDA 12226107
GO:0005515 protein binding IPI 20006610
GO:0016491 oxidoreductase activity IEA,IBA --
GO:0052650 NADP-retinol dehydrogenase activity TAS --
genes like me logo Genes that share ontologies with RDH12: view
genes like me logo Genes that share phenotypes with RDH12: view

Human Phenotype Ontology for RDH12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RDH12 Gene

MGI Knock Outs for RDH12:

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for RDH12 Gene

Localization for RDH12 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RDH12 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 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 and Subcellular locations from the Human Protein Atlas (HPA) for RDH12 Gene

Pathways & Interactions for RDH12 Gene

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

Pathways by source for RDH12 Gene

1 GeneGo (Thomson Reuters) pathway for RDH12 Gene
1 Qiagen pathway 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:0042572 retinol metabolic process IDA 12226107
GO:0045494 photoreceptor cell maintenance TAS 12226107
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RDH12: view

No data available for SIGNOR curated interactions for RDH12 Gene

Drugs & Compounds for RDH12 Gene

(1) Drugs for RDH12 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Target 529

(1) Additional Compounds for RDH12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with RDH12: view

Transcripts for RDH12 Gene

mRNA/cDNA for RDH12 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RDH12 Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RDH12 Gene

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x15.5), Skin - Not Sun Exposed (Suprapubic) (x13.3), Esophagus - Mucosa (x6.6), and Vagina (x4.6).

Protein differential expression in normal tissues from HIPED for RDH12 Gene

This gene is overexpressed in Retina (42.9) and Cervix (23.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RDH12 Gene



NURSA nuclear receptor signaling pathways regulating expression of RDH12 Gene:

RDH12

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.

Evidence on tissue expression from TISSUES for RDH12 Gene

  • Kidney(4.2)
  • Nervous system(4.2)
  • Eye(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RDH12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • olfactory bulb
  • outer ear
  • skull
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with RDH12: view

No data available for Protein tissue co-expression partners for RDH12 Gene

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 34 33
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RDH12 34 33
  • 91.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RDH12 34 33
  • 88.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rdh12 33
  • 84.49 (n)
mouse
(Mus musculus)
Mammalia Rdh12 16 34 33
  • 83.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RDH12 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RDH12 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves RDH12 33
  • 67.95 (n)
-- 34
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
ManyToMany
-- 34
  • 66 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rdh12 34 33
  • 61.5 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007572 33
  • 55.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2065 34
  • 52 (a)
ManyToMany
CG2070 34
  • 51 (a)
ManyToMany
CG30491 34
  • 48 (a)
ManyToMany
CG2064 34
  • 47 (a)
ManyToMany
CG30495 34
  • 47 (a)
ManyToMany
CG3842 34
  • 39 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL089W 33
  • 51.54 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06127g 33
  • 44.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENV9 36 33
  • 42.96 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G23420 33
  • 45.1 (n)
rice
(Oryza sativa)
Liliopsida Os09g0570300 33
  • 49.94 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.13 33
  • 45.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.1180 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1180 33
Species where no ortholog for RDH12 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RDH12: view image

Paralogs for RDH12 Gene

Paralogs for RDH12 Gene

(7) SIMAP similar genes for RDH12 Gene using alignment to 1 proteins:

  • RDH12_HUMAN
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 Variation AA Info Type
rs1002595925 uncertain-significance, Retinitis Pigmentosa, Recessive 67,734,282(+) A/T 3_prime_UTR_variant
rs104894470 pathogenic, Leber congenital amaurosis 13 67,727,097(+) C/T coding_sequence_variant, stop_gained
rs104894471 pathogenic, Leber congenital amaurosis 13 67,724,588(+) C/T coding_sequence_variant, stop_gained
rs104894472 pathogenic, Leber congenital amaurosis 13, Leber congenital amaurosis 13 (LCA13) [MIM:612712] 67,727,055(+) T/C coding_sequence_variant, missense_variant
rs104894473 pathogenic, Leber congenital amaurosis 13, Leber congenital amaurosis 13 (LCA13) [MIM:612712] 67,724,556(+) T/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2661248 CNV deletion 23128226
esv3634807 CNV loss 21293372
nsv477636 CNV novel sequence insertion 20440878
nsv521832 CNV loss 19592680
nsv952856 CNV duplication 24416366
nsv976349 CNV duplication 23825009

Variation tolerance for RDH12 Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.18; 69.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RDH12 Gene

Human Gene Mutation Database (HGMD)
RDH12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDH12

SNP Genotyping and Copy Number Assay Products

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

Disorders for RDH12 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RDH12 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis 13
  • lca13
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus dystrophy
  • retinal dystrophy
ewing sarcoma
  • es
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search RDH12 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for RDH12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RDH12: view

No data available for Genatlas for RDH12 Gene

Publications for RDH12 Gene

  1. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. (PMID: 15322982) Perrault I … Rozet JM (American journal of human genetics 2004) 3 4 22 44 58
  2. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (PMID: 19753312) Sundaresan P … Stone EM (Molecular vision 2009) 3 22 44 58
  3. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PMID: 12226107) Haeseleer F … Palczewski K (The Journal of biological chemistry 2002) 2 3 4 58
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 44 58
  5. Disease-associated variants of microsomal retinol dehydrogenase 12 (RDH12) are degraded at mutant-specific rates. (PMID: 20006610) Lee SA … Kedishvili NY (FEBS letters 2010) 3 22 58

Products for RDH12 Gene

Sources for RDH12 Gene

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