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Ask your administrator if you think this is wrong. ======= RDH12 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: RDH12 * **<color #00a2e8>Official Name</color>**: retinol dehydrogenase 12 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=145226|145226]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96NR8|Q96NR8]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RDH12&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RDH12|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608830|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]. * **<color #00a2e8>UniProt Summary</color>**: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments. {ECO:0000269|PubMed:12226107}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Epimerase| |KR| |adh short| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |photoreceptor inner segment membrane| |cellular detoxification of aldehyde| |cellular response to aldehyde| |NADP-retinol dehydrogenase activity| |retinol dehydrogenase activity| |photoreceptor cell maintenance| |retinol metabolic process| |photoreceptor inner segment| |retina homeostasis| |primary alcohol metabolic process| |cellular detoxification| |retinoid metabolic process| |diterpenoid metabolic process| |terpenoid metabolic process| |cellular hormone metabolic process| |detoxification| |isoprenoid metabolic process| |tissue homeostasis| |hormone metabolic process| |cellular response to toxic substance| |visual perception| |sensory perception of light stimulus| |alcohol metabolic process| |multicellular organismal homeostasis| |anatomical structure homeostasis| |organic hydroxy compound metabolic process| |response to toxic substance| |regulation of hormone levels| |endoplasmic reticulum membrane| |cellular lipid metabolic process| |oxidation-reduction process| |sensory perception| |cellular response to oxygen-containing compound| |lipid metabolic process| |nervous system process| |response to oxygen-containing compound| |homeostatic process| |small molecule metabolic process| |system process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp83|Trametinib 10μM R02 exp83]]|1.84| |[[:results:exp216|Erlotinib 10μM R05 exp216]]|1.95| |[[:results:exp81|Selumetinib 20μM R02 exp81]]|2| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 5670 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.79 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='RDH12 Expression in NALM6 Cells: -2.79'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1