Gene Gene information from NCBI Gene database.
Entrez ID 51109
Gene name Retinol dehydrogenase 11
Gene symbol RDH11
Synonyms (NCBI Gene)
ARSDR1CGI82HCBP12MDT1PSDR1RALR1RDJCSSSCALDSDR7C1
Chromosome 14
Chromosome location 14q24.1
Summary 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.
2
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.
787
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IDA 12226107
GO:0001523 Process Retinoid metabolic process TAS
GO:0001917 Component Photoreceptor inner segment IEA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity ISS
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607849 17964 ENSG00000072042
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Pathogenic; Likely pathogenic rs606231423, rs606231424, rs1470605735 RCV000148296
RCV000148297
RCV003159286
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Optic atrophy Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
RDH11-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA, JUVENILE CATARACT, SHORT STATURE, INTELLECTUAL DISABILITY SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 35275975 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma LHGDN 12532453
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma LHGDN 12532453
★☆☆☆☆
Found in Text Mining only
Metastatic Prostate Carcinoma Metastatic Prostate Carcinoma BEFREE 29248718
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 29248718 Associate
★☆☆☆☆
Found in Text Mining only
Retinal Dystrophies Retinal Dystrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME Retinal Dystrophy, Cataracts, And Short Stature Syndrome ORPHANET_DG 24916380
★☆☆☆☆
Found in Text Mining only
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME Retinal Dystrophy, Cataracts, And Short Stature Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only