Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51109
Gene name Gene Name - the full gene name approved by the HGNC.
Retinol dehydrogenase 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RDH11
Synonyms (NCBI Gene) Gene synonyms aliases
ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, RDJCSS, SCALD, SDR7C1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RDJCSS
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs606231423 G>A Pathogenic Coding sequence variant, stop gained
rs606231424 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016191 hsa-miR-590-3p Sequencing 20371350
MIRT020023 hsa-miR-375 Microarray 20215506
MIRT020293 hsa-miR-130b-3p Sequencing 20371350
MIRT025299 hsa-miR-34a-5p Proteomics 21566225
MIRT025299 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IDA 12226107
GO:0001523 Process Retinoid metabolic process TAS
GO:0004745 Function Retinol dehydrogenase activity ISS
GO:0005515 Function Protein binding IPI 29410696
GO:0005789 Component Endoplasmic reticulum membrane IDA 12807874
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607849 17964 ENSG00000072042
Protein
UniProt ID Q8TC12
Protein name Retinol dehydrogenase 11 (EC 1.1.1.300) (Androgen-regulated short-chain dehydrogenase/reductase 1) (HCV core-binding protein HCBP12) (Prostate short-chain dehydrogenase/reductase 1) (Retinal reductase 1) (RalR1) (Short chain dehydrogenase/reductase family
Protein function Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12036956, PubMed:12226107, PubMed:29410696). Exhibits a low reductive ac
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 42 247 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in the epithelial cells of prostate, in both basal and luminal secretory cell populations. Expressed at low levels in spleen, thymus, testis, ovary, small intestine, colon, peripherical blood leukocytes, kidney,
Sequence
Sequence length 318
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors
  The canonical retinoid cycle in rods (twilight vision)
RA biosynthesis pathway
Retinoid metabolism and transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Retinal dystrophy Retinal Dystrophies rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803
View all (2328 more)
Retinitis pigmentosa-cataract-short stature-intellectual disability syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome rs606231423, rs606231424
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa-Cataract-Short Stature-Intellectual Disability Syndrome retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Creutzfeldt Jakob Syndrome Associate 24916380
Inflammatory Bowel Diseases Associate 35275975
Prostatic Neoplasms Associate 29248718
Retinitis Pigmentosa Associate 24916380