RDH12 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

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	Preferred Names retinol dehydrogenase 12 (all-trans/9-cis/11-cis) Names retinol dehydrogenase 12 all-trans and 9-cis retinol dehydrogenase retinol dehydrogenase 12, all-trans and 9-cis short chain dehydrogenase/reductase family 7C member 2
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 14 Map Location: 14q24.1
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:	608830
Disorder Html:	Leber congenital amaurosis 13, 612712 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_152443.3	NP_689656.2	retinol dehydrogenase 12 precursor
NM_152443.2	NP_689656.2	retinol dehydrogenase 12 precursor

Pathways from BioSystems

Homologies

Homo sapiens (human)	RDH12	NP_689656.2
Canis lupus familiaris (dog)	RDH12	XP_547866.3
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP007572	XP_308302.4
Eremothecium gossypii	AGOS_AAL089W	NP_982453.1
Rattus norvegicus (Norway rat)	Rdh12	NP_001101507.1
Gallus gallus (chicken)	RDH12	XP_421193.1
Kluyveromyces lactis	KLLA0D06127g	XP_453335.1
Oryza sativa (rice)	Os09g0570300	NP_001063985.1
	RDH12	XP_002805156.1
Bos taurus (cattle)	RDH12	NP_899207.1
Danio rerio (zebrafish)	rdh12	NP_001002325.1
Saccharomyces cerevisiae (baker's yeast)	ENV9	NP_014889.3
Arabidopsis thaliana (thale cress)	AT4G23420	NP_001190811.1
Pan troglodytes (chimpanzee)	RDH12	XP_003314454.1
Mus musculus (house mouse)	Rdh12	NP_084293.1
Schizosaccharomyces pombe (fission yeast)	SPCC736.13	NP_587784.1
Arabidopsis thaliana (thale cress)	AT4G23430	NP_849428.1
Arabidopsis thaliana (thale cress)	AT4G11410	NP_192880.1

Gene Ontology
Bibliography

Related articles in PubMed

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Garg A, Lee W, Sengillo JD, Allikmets R, Garg K, Tsang SH
Ophthalmic genetics38(6)575-579(2017 Dec)

Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
Li Y, Pan Q, Gu YS
Journal of Zhejiang University. Science. B18(5)421-429(2017 May)

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
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
Cell164(4)805-17(2016 Feb)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Peripapillary sparing is a novel phenotypic feature of RDH12-associated Leber congenital amaurosis.
Title: Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

The mutation detection of RDH12 in this study also implies that whole exome sequencing is a useful method for detection of potential mutations in small families with atypical clinical manifestations of genetic disease.
Title: Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing.

We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12).
Title: Elevation deficiency in children with recessive RDH12-related retinopathy.

Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
Title: Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.

The three patients with Leber congenital amaurosis/early-onset retinal dystrophy had a progressive decrease of their vision with the formation of a posterior staphyloma.
Title: Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.

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.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu18672	NM_152443.3 Latest version!	Homo sapiens retinol dehydrogenase 12 (RDH12), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$99.50-$139.30 $199.00
View Old Accession Versions >>
OHu18672	NM_152443.2	Homo sapiens retinol dehydrogenase 12 (RDH12), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$99.50-$139.30 $199.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

RDH12 ( NM_152443.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_689656.2 Homo sapiens retinol dehydrogenase 12 (RDH12), mRNA.

Price & Availability↑

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 SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-25
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.

ATGCTGGTCA 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 G

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_689656.2
CDS	325..1275
Translation	MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE

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	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_152443.3

ORF Insert Sequence:

ATGCTGGTCA 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 G

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RDH12 ( NM_152443.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_689656.2 Homo sapiens retinol dehydrogenase 12 (RDH12), mRNA.

Price & Availability↑

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 SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-02-23
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.

ATGCTGGTCA 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 G

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_689656.2
CDS	325..1275
Translation	MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE

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	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_152443.2

ORF Insert Sequence:

ATGCTGGTCA 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 G

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Ophthalmic genetics38(6)575-579(2017 Dec)
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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RDH12 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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