ENSG00000072042


Homo sapiens

Features
Gene ID: ENSG00000072042
  
Biological name :RDH11
  
Synonyms : Q8TC12 / RDH11 / retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q24.1
Gene start: 67676801
Gene end: 67695814
  
Corresponding Affymetrix probe sets: 217042_at (Human Genome U133 Plus 2.0 Array)   217775_s_at (Human Genome U133 Plus 2.0 Array)   217776_at (Human Genome U133 Plus 2.0 Array)   232359_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451280
Ensembl peptide - ENSP00000452108
Ensembl peptide - ENSP00000452079
Ensembl peptide - ENSP00000370750
Ensembl peptide - ENSP00000416395
Ensembl peptide - ENSP00000450435
Ensembl peptide - ENSP00000450651
Ensembl peptide - ENSP00000450802
NCBI entrez gene - 51109     See in Manteia.
OMIM - 607849
RefSeq - NM_001252650
RefSeq - NM_016026
RefSeq Peptide - NP_001239579
RefSeq Peptide - NP_057110
swissprot - H0YJ46
swissprot - A0A0S2Z583
swissprot - Q8TC12
swissprot - G3V234
swissprot - G3V2G6
swissprot - G3V3K0
swissprot - G3V510
Ensembl - ENSG00000072042
  
Related genetic diseases (OMIM): 616108 - ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rdh12ENSDARG00000018069Danio rerio
 ENSGALG00000009538Gallus gallus
 Rdh11ENSMUSG00000066441Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RDH12 / Q96NR8 / retinol dehydrogenase 12 (all-trans/9-cis/11-cis)ENSG0000013998871
RDH13 / Q8NBN7 / retinol dehydrogenase 13ENSG0000016043949
RDH14 / Q9HBH5 / retinol dehydrogenase 14ENSG0000024085745
DHRS13 / Q6UX07 / dehydrogenase/reductase 13ENSG0000016753644
WWOX / Q9NZC7 / WW domain containing oxidoreductaseENSG0000018615338
DHRSX / Q8N5I4 / dehydrogenase/reductase X-linkedENSG0000016908437
A0PJE2 / DHRS12 / dehydrogenase/reductase 12ENSG0000010279629


Protein motifs (from Interpro)
Interpro ID Name
 IPR002347  Short-chain dehydrogenase/reductase SDR
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0016062 adaptation of rhodopsin mediated signaling IEA
 biological_processGO:0042572 retinol metabolic process ISS
 biological_processGO:0042574 retinal metabolic process IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0001917 photoreceptor inner segment IEA
 cellular_componentGO:0005622 intracellular ISS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004745 retinol dehydrogenase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor TAS
 molecular_functionGO:0052650 NADP-retinol dehydrogenase activity IDA


Pathways (from Reactome)
Pathway description
The canonical retinoid cycle in rods (twilight vision)
RA biosynthesis pathway
Retinoid metabolism and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000556 Retinal dystrophy 
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000687 Widely spaced teeth 
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 HP:0000689 Dental malocclusion "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000140522 RLBP1 / P12271 / retinaldehyde binding protein 1  / reaction
 ENSG00000114113 RBP2 / P50120 / retinol binding protein 2  / reaction






 

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