PDE6H cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	PDE6H
Entrez Gene ID	5149
Full Name	phosphodiesterase 6H
Synonyms	ACHM6,RCD3
General protein information	Preferred Names phosphodiesterase 6H Names retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma GMP-PDE gamma phosphodiesterase 6H, cGMP-specific, cone, gamma
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 12 Map Location: 12p12.3
Summary	This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010].
Disorder MIM:	601190
Disorder Html:	Retinal cone dystrophy 3, 610024 (3); Achromatopsia 6, 610024 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_006205.3	NP_006196.1	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
NM_006205.2	NP_006196.1	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
XM_017019431.1	XP_016874920.1	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1
XM_017019431.2	XP_016874920.1	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

Pathways from BioSystems

Homologies

Pan troglodytes (chimpanzee)	PDE6H	XP_001158553.1
Canis lupus familiaris (dog)	PDE6H	XP_005637168.1
Bos taurus (cattle)	PDE6H	NP_776847.1
Rattus norvegicus (Norway rat)	Pde6h	NP_446140.1
	PDE6H	XP_001091111.1
Mus musculus (house mouse)	Pde6h	NP_076387.2
Gallus gallus (chicken)	PDE6H	NP_989739.1
Homo sapiens (human)	PDE6H	NP_006196.1
Danio rerio (zebrafish)	zgc:73359	NP_957131.1
Xenopus tropicalis (tropical clawed frog)	pde6h	NP_001016745.1

Gene Ontology
Bibliography

Related articles in PubMed

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, , Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B
American journal of human genetics91(3)527-32(2012 Sep)

Mapping of transcription start sites of human retina expressed genes.
Roni V, Carpio R, Wissinger B
BMC genomics842(2007 Feb)

A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB
Ophthalmology112(1)159-66(2005 Jan)

Three-dimensional structure of non-activated cGMP phosphodiesterase 6 and comparison of its image with those of activated forms.
Kajimura N, Yamazaki M, Morikawa K, Yamazaki A, Mayanagi K
Journal of structural biology139(1)27-38(2002 Jul)

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

These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory gamma subunit in cone phototransduction
Title: A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Our results indicate that mutations in the PDE6H gene are not common, because only 1 of 240 patients with cone dystrophy showed a single nucleotide substitution in the 5' UTR of PDE6H mRNA
Title: A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.

The following PDE6H gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PDE6H 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)
OHu18077	NM_006205.3 Latest version!	Homo sapiens phosphodiesterase 6H (PDE6H), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu18077	XM_017019431.2 Latest version!	Homo sapiens phosphodiesterase 6H (PDE6H), transcript variant X1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
View Old Accession Versions >>
OHu18077	NM_006205.2	Homo sapiens phosphodiesterase 6H (PDE6H), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu18077	XM_017019431.1	Homo sapiens phosphodiesterase 6H (PDE6H), transcript variant X1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
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)

PDE6H ( NM_006205.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_006196.1 Homo sapiens phosphodiesterase 6H (PDE6H), mRNA.

Price & Availability↑

CloneID	OHu18077
Clone ID Related Accession (Same CDS sequence)	NM_006205.3 , NM_006205.2 , XM_017019431.1 , XM_017019431.2
Accession Version	NM_006205.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 252bp) 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	2019-12-30
Organism	Homo sapiens(human)
Product	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from EL946662.1, D45399.1 and BU729922.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_006205.2. ##Evidence-Data-START## Transcript exon combination :: D45399.1, EL953697.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000266395.3/ ENSP00000266395.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

RefSeq	NP_006196.1
CDS	87..338
Translation	MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDITVICPWEAFSHLELHELAQFGII

Target ORF information:

RefSeq Version	NM_006205.3
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphodiesterase 6H (PDE6H), mRNA.

Target ORF information:

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

NM_006205.3

ORF Insert Sequence:

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

PDE6H ( NM_006205.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_006196.1 Homo sapiens phosphodiesterase 6H (PDE6H), mRNA.

Price & Availability↑

CloneID	OHu18077
Clone ID Related Accession (Same CDS sequence)	NM_006205.3 , NM_006205.2 , XM_017019431.1 , XM_017019431.2
Accession Version	NM_006205.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 252bp) 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	2017-10-01
Organism	Homo sapiens(human)
Product	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from EL946662.1, D45399.1 and BU729922.1. This sequence is a reference standard in the RefSeqGene project. On Mar 13, 2010 this sequence version replaced NM_006205.1. ##Evidence-Data-START## Transcript exon combination :: D45399.1, EL953697.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

RefSeq	NP_006196.1
CDS	107..358
Translation	MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDITVICPWEAFSHLELHELAQFGII

Target ORF information:

RefSeq Version	NM_006205.2
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphodiesterase 6H (PDE6H), mRNA.

Target ORF information:

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

NM_006205.2

ORF Insert Sequence:

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

PDE6H ( XM_017019431.1 ) cDNA ORF clone, Homo sapiens(human) -> XP_016874920.1 Homo sapiens phosphodiesterase 6H (PDE6H), transcript variant X1, mRNA.

Price & Availability↑

CloneID	OHu18077
Clone ID Related Accession (Same CDS sequence)	NM_006205.3 , NM_006205.2 , XM_017019431.1 , XM_017019431.2
Accession Version	XM_017019431.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 252bp) 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	2016-06-05
Organism	Homo sapiens(human)
Product	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1
Comment	Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000012.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

RefSeq	XP_016874920.1
CDS	350..601
Translation	MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDITVICPWEAFSHLELHELAQFGII

Target ORF information:

RefSeq Version	XM_017019431.1
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphodiesterase 6H (PDE6H), transcript variant X1, mRNA.

Target ORF information:

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

XM_017019431.1

ORF Insert Sequence:

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

PDE6H ( XM_017019431.2 ) cDNA ORF clone, Homo sapiens(human) -> XP_016874920.1 Homo sapiens phosphodiesterase 6H (PDE6H), transcript variant X1, mRNA.

Price & Availability↑

CloneID	OHu18077
Clone ID Related Accession (Same CDS sequence)	NM_006205.3 , NM_006205.2 , XM_017019431.1 , XM_017019431.2
Accession Version	XM_017019431.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 252bp) 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	2019-12-05
Organism	Homo sapiens(human)
Product	retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1
Comment	Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000012.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process On Mar 26, 2018 this sequence version replaced XM_017019431.1. ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

RefSeq	XP_016874920.1
CDS	350..601
Translation	MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDITVICPWEAFSHLELHELAQFGII

Target ORF information:

RefSeq Version	XM_017019431.2
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphodiesterase 6H (PDE6H), transcript variant X1, mRNA.

Target ORF information:

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

XM_017019431.2

ORF Insert Sequence:

ATGAGTGACA ACACTACTCT GCCTGCTCCA GCTTCAAACC AGGGTCCTAC CACCCCACGC 
AAAGGCCCTC CCAAGTTCAA GCAGAGGCAG ACTCGCCAAT TCAAGAGTAA ACCTCCAAAG 
AAAGGTGTGA AAGGATTTGG AGATGACATT CCAGGAATGG AGGGGCTAGG AACAGATATC 
ACAGTGATTT GTCCATGGGA GGCATTCAGC CACCTGGAAT TGCATGAGCT CGCTCAGTTT 
GGGATTATCT GA

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

PubMed

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
American journal of human genetics91(3)527-32(2012 Sep)
Kohl S,Coppieters F,Meire F,Schaich S,Roosing S,Brennenstuhl C,Bolz S,van Genderen MM,Riemslag FC,,Lukowski R,den Hollander AI,Cremers FP,De Baere E,Hoyng CB,Wissinger B

Mapping of transcription start sites of human retina expressed genes.
BMC genomics842(2007 Feb)
Roni V,Carpio R,Wissinger B

A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
Ophthalmology112(1)159-66(2005 Jan)
Piri N,Gao YQ,Danciger M,Mendoza E,Fishman GA,Farber DB

Three-dimensional structure of non-activated cGMP phosphodiesterase 6 and comparison of its image with those of activated forms.
Journal of structural biology139(1)27-38(2002 Jul)
Kajimura N,Yamazaki M,Morikawa K,Yamazaki A,Mayanagi K

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PDE6H 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:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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