• Gene id: 145226

Gene Summary

• Gene Symbol: RDH12   Gene   UCSC   Ensembl
• Aliases: LCA13, RP53, SDR7C2
• Gene name: retinol dehydrogenase 12
• Alternate names: retinol dehydrogenase 12, all-trans and 9-cis retinol dehydrogenase, retinol dehydrogenase 12 (all-trans/9-cis/11-cis), retinol dehydrogenase 12, all-trans and 9-cis, short chain dehydrogenase/reductase family 7C member 2,
• Gene location: 14q24.1 (67701885: 67734450)     Exons: 9     NC_000014.9
• Gene summary(Entrez): 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 dehydrogena
• OMIM: 601398

Protein Summary

• Protein general information: Q96NR8  
  • Name: Retinol dehydrogenase 12 (EC 1.1.1.300) (All trans and 9 cis retinol dehydrogenase) (Short chain dehydrogenase/reductase family 7C member 2)
  • Length: 316  
  • Mass: 35094
  • Tissue specificity: Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach. {ECO
• Sequence:

  MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLK
  GESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLG
  HFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTT
  YAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTA
  ERLWNVSCELLGIRWE

• Structural information:
  • Interpro: IPR036291  IPR002347  
  • STRING: ENSP00000449079
• Other Databases: GeneCards:  RDH12  Malacards:  RDH12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0110095	cellular detoxification of aldehyde	IDA	biological process
GO:0052650	NADP-retinol dehydrogenase activity	IDA	molecular function
GO:0007601	visual perception	IMP	biological process
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0052650	NADP-retinol dehydrogenase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0052650	NADP-retinol dehydrogenase activity	TAS	molecular function
GO:0060342	photoreceptor inner segment membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0110095	cellular detoxification of aldehyde	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0004745	retinol dehydrogenase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process
GO:0004745	retinol dehydrogenase activity	IDA	molecular function
GO:0042572	retinol metabolic process	IDA	biological process
GO:0045494	photoreceptor cell maintenance	TAS	biological process
GO:0007601	visual perception	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis	KEGG:H00837
Leber hereditary optic neuropathy	PMID:15322982
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881