| Gene Symbol | RDH12 |
| Entrez Gene ID | 145226 |
| Full Name | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
| Synonyms | LCA13,RP53,SDR7C2 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Leber congenital amaurosis 13, 612712 (3) |
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RDH12 cDNA ORF clone, Homo sapiens(human)
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Gene
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Clones
gRNAs
The following RDH12 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the RDH12 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
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Reference Sequences (Refseq)
CloneID OHu18672 
Clone ID Related Accession (Same CDS sequence) NM_152443.3 , NM_152443.2 Accession Version NM_152443.3 Latest version! Documents for ORF clone product in default vector Sequence Information ORF Nucleotide Sequence (Length: 951bp)
Protein sequence
SNPVector pcDNA3.1-C-(k)DYK or customized vector 
User ManualClone information Clone Map MSDSTag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags ORF Insert Method CloneEZ™ Seamless cloning technology Insert Structure linear Update Date 1571932800000 Organism Homo sapiens(human) Product retinol dehydrogenase 12 precursor Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK315462.1 and BC025724.1. This sequence is a reference standard in the RefSeqGene project. On May 17, 2019 this sequence version replaced NM_152443.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK315462.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000551171.6/ ENSP00000449079.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901ATGCTGGTCA CCTTGGGACT GCTCACCTCC TTCTTCTCGT TCCTGTATAT GGTAGCTCCA
TCCATCAGGA AGTTCTTTGC TGGTGGAGTG TGTAGAACAA ATGTGCAGCT TCCTGGCAAG
GTAGTGGTGA TCACTGGCGC CAACACGGGC ATTGGCAAGG AGACGGCCAG AGAGCTCGCT
AGCCGAGGAG CCCGAGTCTA TATTGCCTGC AGAGATGTAC TGAAGGGGGA GTCTGCTGCC
AGTGAAATCC GAGTGGATAC AAAGAACTCC CAGGTGCTGG TGCGGAAATT GGACCTATCC
GACACCAAAT CTATCCGAGC CTTTGCTGAG GGCTTTCTGG CAGAGGAAAA GCAGCTCCAT
ATTCTGATCA ACAATGCGGG AGTAATGATG TGTCCATATT CCAAGACAGC TGATGGCTTT
GAAACCCACC TGGGAGTCAA CCACCTGGGC CACTTCCTCC TCACCTACCT GCTCCTGGAG
CGGCTAAAGG TGTCTGCCCC TGCACGGGTG GTTAATGTGT CCTCGGTGGC TCACCACATT
GGCAAGATTC CCTTCCACGA CCTCCAGAGC GAGAAGCGCT ACAGCAGGGG TTTTGCCTAT
TGCCACAGCA AGCTGGCCAA TGTGCTTTTT ACTCGTGAGC TGGCCAAGAG GCTCCAAGGC
ACCGGGGTCA CCACCTACGC AGTGCACCCA GGCGTCGTCC GCTCTGAGCT GGTCCGGCAC
TCCTCCCTGC TCTGCCTGCT CTGGCGGCTC TTCTCCCCCT TTGTCAAGAC GGCACGGGAG
GGGGCGCAGA CCAGCCTGCA CTGCGCCCTG GCTGAGGGCC TGGAGCCCCT GAGTGGCAAG
TACTTCAGTG ACTGCAAGAG GACCTGGGTG TCTCCAAGGG CCCGAAATAA CAAAACAGCT
GAGCGCCTAT GGAATGTCAG CTGTGAGCTT CTAGGAATCC GGTGGGAGTA GThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq NP_689656.2 CDS 325..1275 Translation 
Target ORF information:
RefSeq Version NM_152443.3 Organism Homo sapiens(human) Definition Homo sapiens retinol dehydrogenase 12 (RDH12), mRNA. Target ORF information:
Epitope DYKDDDDK Bacterial selection AMPR Mammalian selection NeoR Vector pcDNA3.1+/C-(K)DYK 
NM_152443.3
ORF Insert Sequence:
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901ATGCTGGTCA CCTTGGGACT GCTCACCTCC TTCTTCTCGT TCCTGTATAT GGTAGCTCCA
TCCATCAGGA AGTTCTTTGC TGGTGGAGTG TGTAGAACAA ATGTGCAGCT TCCTGGCAAG
GTAGTGGTGA TCACTGGCGC CAACACGGGC ATTGGCAAGG AGACGGCCAG AGAGCTCGCT
AGCCGAGGAG CCCGAGTCTA TATTGCCTGC AGAGATGTAC TGAAGGGGGA GTCTGCTGCC
AGTGAAATCC GAGTGGATAC AAAGAACTCC CAGGTGCTGG TGCGGAAATT GGACCTATCC
GACACCAAAT CTATCCGAGC CTTTGCTGAG GGCTTTCTGG CAGAGGAAAA GCAGCTCCAT
ATTCTGATCA ACAATGCGGG AGTAATGATG TGTCCATATT CCAAGACAGC TGATGGCTTT
GAAACCCACC TGGGAGTCAA CCACCTGGGC CACTTCCTCC TCACCTACCT GCTCCTGGAG
CGGCTAAAGG TGTCTGCCCC TGCACGGGTG GTTAATGTGT CCTCGGTGGC TCACCACATT
GGCAAGATTC CCTTCCACGA CCTCCAGAGC GAGAAGCGCT ACAGCAGGGG TTTTGCCTAT
TGCCACAGCA AGCTGGCCAA TGTGCTTTTT ACTCGTGAGC TGGCCAAGAG GCTCCAAGGC
ACCGGGGTCA CCACCTACGC AGTGCACCCA GGCGTCGTCC GCTCTGAGCT GGTCCGGCAC
TCCTCCCTGC TCTGCCTGCT CTGGCGGCTC TTCTCCCCCT TTGTCAAGAC GGCACGGGAG
GGGGCGCAGA CCAGCCTGCA CTGCGCCCTG GCTGAGGGCC TGGAGCCCCT GAGTGGCAAG
TACTTCAGTG ACTGCAAGAG GACCTGGGTG TCTCCAAGGG CCCGAAATAA CAAAACAGCT
GAGCGCCTAT GGAATGTCAG CTGTGAGCTT CTAGGAATCC GGTGGGAGTA GThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID OHu18672 Clone ID Related Accession (Same CDS sequence) NM_152443.3 , NM_152443.2 Accession Version NM_152443.2 Documents for ORF clone product in default vector Sequence Information ORF Nucleotide Sequence (Length: 951bp)
Protein sequence
SNPVector pcDNA3.1-C-(k)DYK or customized vector User ManualClone information Clone Map MSDSTag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags ORF Insert Method CloneEZ™ Seamless cloning technology Insert Structure linear Update Date 1550851200000 Organism Homo sapiens(human) Product retinol dehydrogenase 12 precursor Comment Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK315462.1 and BC025724.1. This sequence is a reference standard in the RefSeqGene project. On Apr 29, 2008 this sequence version replaced NM_152443.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK315462.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901ATGCTGGTCA CCTTGGGACT GCTCACCTCC TTCTTCTCGT TCCTGTATAT GGTAGCTCCA
TCCATCAGGA AGTTCTTTGC TGGTGGAGTG TGTAGAACAA ATGTGCAGCT TCCTGGCAAG
GTAGTGGTGA TCACTGGCGC CAACACGGGC ATTGGCAAGG AGACGGCCAG AGAGCTCGCT
AGCCGAGGAG CCCGAGTCTA TATTGCCTGC AGAGATGTAC TGAAGGGGGA GTCTGCTGCC
AGTGAAATCC GAGTGGATAC AAAGAACTCC CAGGTGCTGG TGCGGAAATT GGACCTATCC
GACACCAAAT CTATCCGAGC CTTTGCTGAG GGCTTTCTGG CAGAGGAAAA GCAGCTCCAT
ATTCTGATCA ACAATGCGGG AGTAATGATG TGTCCATATT CCAAGACAGC TGATGGCTTT
GAAACCCACC TGGGAGTCAA CCACCTGGGC CACTTCCTCC TCACCTACCT GCTCCTGGAG
CGGCTAAAGG TGTCTGCCCC TGCACGGGTG GTTAATGTGT CCTCGGTGGC TCACCACATT
GGCAAGATTC CCTTCCACGA CCTCCAGAGC GAGAAGCGCT ACAGCAGGGG TTTTGCCTAT
TGCCACAGCA AGCTGGCCAA TGTGCTTTTT ACTCGTGAGC TGGCCAAGAG GCTCCAAGGC
ACCGGGGTCA CCACCTACGC AGTGCACCCA GGCGTCGTCC GCTCTGAGCT GGTCCGGCAC
TCCTCCCTGC TCTGCCTGCT CTGGCGGCTC TTCTCCCCCT TTGTCAAGAC GGCACGGGAG
GGGGCGCAGA CCAGCCTGCA CTGCGCCCTG GCTGAGGGCC TGGAGCCCCT GAGTGGCAAG
TACTTCAGTG ACTGCAAGAG GACCTGGGTG TCTCCAAGGG CCCGAAATAA CAAAACAGCT
GAGCGCCTAT GGAATGTCAG CTGTGAGCTT CTAGGAATCC GGTGGGAGTA GThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq NP_689656.2 CDS 325..1275 Translation
Target ORF information:
RefSeq Version NM_152443.2 Organism Homo sapiens(human) Definition Homo sapiens retinol dehydrogenase 12 (RDH12), mRNA. Target ORF information:
Epitope DYKDDDDK Bacterial selection AMPR Mammalian selection NeoR Vector pcDNA3.1+/C-(K)DYK NM_152443.2
ORF Insert Sequence:
1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901ATGCTGGTCA CCTTGGGACT GCTCACCTCC TTCTTCTCGT TCCTGTATAT GGTAGCTCCA
TCCATCAGGA AGTTCTTTGC TGGTGGAGTG TGTAGAACAA ATGTGCAGCT TCCTGGCAAG
GTAGTGGTGA TCACTGGCGC CAACACGGGC ATTGGCAAGG AGACGGCCAG AGAGCTCGCT
AGCCGAGGAG CCCGAGTCTA TATTGCCTGC AGAGATGTAC TGAAGGGGGA GTCTGCTGCC
AGTGAAATCC GAGTGGATAC AAAGAACTCC CAGGTGCTGG TGCGGAAATT GGACCTATCC
GACACCAAAT CTATCCGAGC CTTTGCTGAG GGCTTTCTGG CAGAGGAAAA GCAGCTCCAT
ATTCTGATCA ACAATGCGGG AGTAATGATG TGTCCATATT CCAAGACAGC TGATGGCTTT
GAAACCCACC TGGGAGTCAA CCACCTGGGC CACTTCCTCC TCACCTACCT GCTCCTGGAG
CGGCTAAAGG TGTCTGCCCC TGCACGGGTG GTTAATGTGT CCTCGGTGGC TCACCACATT
GGCAAGATTC CCTTCCACGA CCTCCAGAGC GAGAAGCGCT ACAGCAGGGG TTTTGCCTAT
TGCCACAGCA AGCTGGCCAA TGTGCTTTTT ACTCGTGAGC TGGCCAAGAG GCTCCAAGGC
ACCGGGGTCA CCACCTACGC AGTGCACCCA GGCGTCGTCC GCTCTGAGCT GGTCCGGCAC
TCCTCCCTGC TCTGCCTGCT CTGGCGGCTC TTCTCCCCCT TTGTCAAGAC GGCACGGGAG
GGGGCGCAGA CCAGCCTGCA CTGCGCCCTG GCTGAGGGCC TGGAGCCCCT GAGTGGCAAG
TACTTCAGTG ACTGCAAGAG GACCTGGGTG TCTCCAAGGG CCCGAAATAA CAAAACAGCT
GAGCGCCTAT GGAATGTCAG CTGTGAGCTT CTAGGAATCC GGTGGGAGTA GThe stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
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PubMed
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Investigative ophthalmology & visual science59(12)5225-5236(2018 10)
Aleman TS,Uyhazi KE,Serrano LW,Vasireddy V,Bowman SJ,Ammar MJ,Pearson DJ,Maguire AM,Bennett J
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Ophthalmic genetics38(6)575-579(2017 12)
Garg A,Lee W,Sengillo JD,Allikmets R,Garg K,Tsang SH
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
Journal of Zhejiang University. Science. B18(5)421-429(2017 May)
Li Y,Pan Q,Gu YS
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Cell164(4)805-17(2016 Feb)
Yang X,Coulombe-Huntington J,Kang S,Sheynkman GM,Hao T,Richardson A,Sun S,Yang F,Shen YA,Murray RR,Spirohn K,Begg BE,Duran-Frigola M,MacWilliams A,Pevzner SJ,Zhong Q,Trigg SA,Tam S,Ghamsari L,Sahni N,Yi S,Rodriguez MD,Balcha D,Tan G,Costanzo M,Andrews B,Boone C,Zhou XJ,Salehi-Ashtiani K,Charloteaux B,Chen AA,Calderwood MA,Aloy P,Roth FP,Hill DE,Iakoucheva LM,Xia Y,Vidal M
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