Gene table of RDH12 : retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

Gene-disease associations table

Disease IDDisease nameSource of annotation with RDH12OMIM linkNumber of associated genesgenes
PS204000LEBER CONGENITAL AMAUROSISClinVar, OMIM, HUMSAVAR link to OMIM 19PRPH2, TULP1, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, RPGRIP1, GUCY2D, CRB1, ROM1, KCNJ13, RD3, NMNAT1, LCA5, IMPDH1, AIPL1
PS268000RETINITIS PIGMENTOSAClinVar, OMIM, HUMSAVAR link to OMIM 69PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A

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Annotation of the gene RDH12

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 637, together with the genes:

Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Retinol metabolismhsa008306.79
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Diseases associated with visual transductionR-HSA-24747959.28
Visual phototransductionR-HSA-21873386.44
Diseases of signal transductionR-HSA-56632024.89
Retinoid cycle disease eventsR-HSA-24538649.28
Signal TransductionR-HSA-1625821.78
The canonical retinoid cycle in rods (twilight vision)R-HSA-24539028.52
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
aldo-keto reductase (NADP) activityGO:00040336.48
alcohol dehydrogenase (NADP+) activityGO:00081066.97
oxidoreductase activity, acting on CH-OH group of donorsGO:00166144.83
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptorGO:00166165.0
NADP-retinol dehydrogenase activityGO:00526507.54
catalytic activityGO:00038241.05
bindingGO:00054880.18
protein bindingGO:00055150.46
retinol dehydrogenase activityGO:00047456.85
oxidoreductase activityGO:00164913.12