ENSG00000139988


Homo sapiens

Features
Gene ID: ENSG00000139988
  
Biological name :RDH12
  
Synonyms : Q96NR8 / RDH12 / retinol dehydrogenase 12 (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: 67701886
Gene end: 67734452
  
Corresponding Affymetrix probe sets: 242998_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000267502
Ensembl peptide - ENSP00000449079
NCBI entrez gene - 145226     See in Manteia.
OMIM - 608830
RefSeq - NM_152443
RefSeq Peptide - NP_689656
swissprot - A0A0S2Z613
swissprot - Q96NR8
Ensembl - ENSG00000139988
  
Related genetic diseases (OMIM): 612712 - Leber congenital amaurosis 13, 612712
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
 Rdh12ENSMUSG00000021123Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RDH11 / Q8TC12 / retinol dehydrogenase 11 (all-trans/9-cis/11-cis)ENSG0000007204272
RDH13 / Q8NBN7 / retinol dehydrogenase 13ENSG0000016043949
DHRS13 / Q6UX07 / dehydrogenase/reductase 13ENSG0000016753645
RDH14 / Q9HBH5 / retinol dehydrogenase 14ENSG0000024085745
WWOX / Q9NZC7 / WW domain containing oxidoreductaseENSG0000018615339
DHRSX / Q8N5I4 / dehydrogenase/reductase X-linkedENSG0000016908438
A0PJE2 / DHRS12 / dehydrogenase/reductase 12ENSG0000010279630


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:0007601 visual perception TAS
 biological_processGO:0042572 retinol metabolic process IDA
 biological_processGO:0045494 photoreceptor cell maintenance TAS
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0060342 photoreceptor inner segment membrane TAS
 molecular_functionGO:0004745 retinol dehydrogenase activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0052650 NADP-retinol dehydrogenase activity TAS


Pathways (from Reactome)
Pathway description
Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)


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:0000035 Abnormality of the testis 
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 HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000512 Abnormal electroretinogram "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000556 Retinal dystrophy 
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 HP:0000563 Keratoconus "A cone-shaped deformity of the cornea." [HPO:curators]
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 HP:0000602 Ophthalmoplegia 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000618 Blindness 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000842 Hyperinsulinemia 
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 HP:0000987 Scarring 
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 HP:0001141 Severe visual impairment 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [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:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0002084 Encephalocele 
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 HP:0002269 Neuronal migration disorder 
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 HP:0004374 Hemiplegia/hemiparesis "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators]
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 HP:0005978 Noninsulin-dependent diabetes mellitus 
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 HP:0006817 Cerebellar vermis aplasia/hypoplasia "Absence or underdevelopment of the cerebellar vermis." [HPO:curators]
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 HP:0007675 Progressive night blindness 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0008046 Abnormality of the retinal vasculature 
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 HP:0008736 Hypoplasia of penis 
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 HP:0012795 Abnormality of the optic disc "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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