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RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/11-cis))

Identity

Alias_namesmember 2
Alias_symbol (synonym)FLJ30273
SDR7C2
LCA13
RP53
Other alias
HGNC (Hugo) RDH12
LocusID (NCBI) 145226
Atlas_Id 55050
Location 14q24.1  [Link to chromosome band 14q24]
Location_base_pair Starts at 67701886 and ends at 67734451 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RDH12   19977
Cards
Entrez_Gene (NCBI)RDH12  145226  retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
AliasesLCA13; RP53; SDR7C2
GeneCards (Weizmann)RDH12
Ensembl hg19 (Hinxton)ENSG00000139988 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139988 [Gene_View]  chr14:67701886-67734451 [Contig_View]  RDH12 [Vega]
ICGC DataPortalENSG00000139988
TCGA cBioPortalRDH12
AceView (NCBI)RDH12
Genatlas (Paris)RDH12
WikiGenes145226
SOURCE (Princeton)RDH12
Genetics Home Reference (NIH)RDH12
Genomic and cartography
GoldenPath hg38 (UCSC)RDH12  -     chr14:67701886-67734451 +  14q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RDH12  -     14q24.1   [Description]    (hg19-Feb_2009)
EnsemblRDH12 - 14q24.1 [CytoView hg19]  RDH12 - 14q24.1 [CytoView hg38]
Mapping of homologs : NCBIRDH12 [Mapview hg19]  RDH12 [Mapview hg38]
OMIM608830   612712   
Gene and transcription
Genbank (Entrez)AK054835 AK315462 BC025724 DQ067457 DQ067458
RefSeq transcript (Entrez)NM_152443
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RDH12
Cluster EST : UnigeneHs.739915 [ NCBI ]
CGAP (NCI)Hs.739915
Alternative Splicing GalleryENSG00000139988
Gene ExpressionRDH12 [ NCBI-GEO ]   RDH12 [ EBI - ARRAY_EXPRESS ]   RDH12 [ SEEK ]   RDH12 [ MEM ]
Gene Expression Viewer (FireBrowse)RDH12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)145226
GTEX Portal (Tissue expression)RDH12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96NR8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96NR8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96NR8
Splice isoforms : SwissVarQ96NR8
Catalytic activity : Enzyme1.1.1.- [ Enzyme-Expasy ]   1.1.1.-1.1.1.- [ IntEnz-EBI ]   1.1.1.- [ BRENDA ]   1.1.1.- [ KEGG ]   
PhosPhoSitePlusQ96NR8
Domains : Interpro (EBI)NAD(P)-bd_dom    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)RDH12
DMDM Disease mutations145226
Blocks (Seattle)RDH12
SuperfamilyQ96NR8
Human Protein AtlasENSG00000139988
Peptide AtlasQ96NR8
HPRD10585
IPIIPI00163384   
Protein Interaction databases
DIP (DOE-UCLA)Q96NR8
IntAct (EBI)Q96NR8
FunCoupENSG00000139988
BioGRIDRDH12
STRING (EMBL)RDH12
ZODIACRDH12
Ontologies - Pathways
QuickGOQ96NR8
Ontology : AmiGOretinoid metabolic process  retinol dehydrogenase activity  protein binding  intracellular  visual perception  retinol metabolic process  photoreceptor cell maintenance  response to stimulus  NADP-retinol dehydrogenase activity  oxidation-reduction process  photoreceptor inner segment membrane  
Ontology : EGO-EBIretinoid metabolic process  retinol dehydrogenase activity  protein binding  intracellular  visual perception  retinol metabolic process  photoreceptor cell maintenance  response to stimulus  NADP-retinol dehydrogenase activity  oxidation-reduction process  photoreceptor inner segment membrane  
Pathways : KEGGRetinol metabolism   
NDEx NetworkRDH12
Atlas of Cancer Signalling NetworkRDH12
Wikipedia pathwaysRDH12
Orthology - Evolution
OrthoDB145226
GeneTree (enSembl)ENSG00000139988
Phylogenetic Trees/Animal Genes : TreeFamRDH12
HOVERGENQ96NR8
HOGENOMQ96NR8
Homologs : HomoloGeneRDH12
Homology/Alignments : Family Browser (UCSC)RDH12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRDH12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RDH12
dbVarRDH12
ClinVarRDH12
1000_GenomesRDH12 
Exome Variant ServerRDH12
ExAC (Exome Aggregation Consortium)RDH12 (select the gene name)
Genetic variants : HAPMAP145226
Genomic Variants (DGV)RDH12 [DGVbeta]
DECIPHERRDH12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRDH12 
Mutations
ICGC Data PortalRDH12 
TCGA Data PortalRDH12 
Broad Tumor PortalRDH12
OASIS PortalRDH12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRDH12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRDH12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch RDH12
DgiDB (Drug Gene Interaction Database)RDH12
DoCM (Curated mutations)RDH12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RDH12 (select a term)
intoGenRDH12
Cancer3DRDH12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608830    612712   
Orphanet659    3243   
MedgenRDH12
Genetic Testing Registry RDH12
NextProtQ96NR8 [Medical]
TSGene145226
GENETestsRDH12
Target ValidationRDH12
Huge Navigator RDH12 [HugePedia]
snp3D : Map Gene to Disease145226
BioCentury BCIQRDH12
ClinGenRDH12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD145226
Chemical/Pharm GKB GenePA134864793
Clinical trialRDH12
Miscellaneous
canSAR (ICR)RDH12 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRDH12
EVEXRDH12
GoPubMedRDH12
iHOPRDH12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:52:55 CEST 2017

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