ENSG00000170426


Homo sapiens

Features
Gene ID: ENSG00000170426
  
Biological name :SDR9C7
  
Synonyms : Q8NEX9 / SDR9C7 / short chain dehydrogenase/reductase family 9C member 7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.3
Gene start: 56923154
Gene end: 56934405
  
Corresponding Affymetrix probe sets: 1553077_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000293502
NCBI entrez gene - 121214     See in Manteia.
OMIM - 609769
RefSeq - NM_148897
RefSeq Peptide - NP_683695
swissprot - Q8NEX9
Ensembl - ENSG00000170426
  
Related genetic diseases (OMIM): 617574 - Ichthyosis, congenital, autosomal recessive 13, 617574
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
 ENSGALG00000034701Gallus gallus
 ENSGALG00000041909Gallus gallus
 Q8K3P0ENSMUSG00000040127Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RDH16 / O75452 / retinol dehydrogenase 16 (all-trans)ENSG0000013954752
O14756 / HSD17B6 / hydroxysteroid 17-beta dehydrogenase 6ENSG0000002542351
RDH5 / Q92781 / retinol dehydrogenase 5ENSG0000013543748
DHRS9 / Q9BPW9 / dehydrogenase/reductase 9ENSG0000007373745
BDH1 / Q02338 / 3-hydroxybutyrate dehydrogenase 1ENSG0000016126735
P37059 / HSD17B2 / hydroxysteroid 17-beta dehydrogenase 2ENSG0000008669633
P80365 / HSD11B2 / hydroxysteroid 11-beta dehydrogenase 2ENSG0000017638731
P14061 / HSD17B1 / hydroxysteroid 17-beta dehydrogenase 1ENSG0000010878627
RDH8 / retinol dehydrogenase 8 (all-trans)ENSG0000008051124
DHRS7B / Q6IAN0 / dehydrogenase/reductase 7BENSG0000010901621
DHRS7 / Q9Y394 / dehydrogenase/reductase 7ENSG0000010061220
A6NNS2 / DHRS7C / dehydrogenase/reductase 7CENSG0000018454417
KDSR / Q06136 / 3-ketodihydrosphingosine reductaseENSG0000011953716


Protein motifs (from Interpro)
Interpro ID Name
 IPR002347  Short-chain dehydrogenase/reductase SDR
 IPR020904  Short-chain dehydrogenase/reductase, conserved site
 IPR032968  Short-chain dehydrogenase/reductase family 9C member 7
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0004745 retinol dehydrogenase activity IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
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 HP:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
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 HP:0000232 Everted lower lip 
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 HP:0000389 Chronic otitis media 
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 HP:0000656 Ectropion "An abnormal turning outward of the lower eyelid." [HPO:sdoelken]
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 HP:0000958 Dry skin 
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001019 Erythroderma "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson]
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001944 Dehydration 
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 HP:0002205 Recurrent respiratory infections 
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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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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008070 Sparse hair 
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 HP:0011039 Abnormality of the helix "An abnormality of the `helix` (FMA:60992)." [HPO:probinson]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0100679 Lack of skin elasticity 
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 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
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 HP:0100806 Sepsis 
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 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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