PRPH2 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	PRPH2
Entrez Gene ID	5961
Full Name	peripherin 2
Synonyms	AOFMD,AVMD,CACD2,DS,MDBS1,PRPH,RDS,RP7,TSPAN22,rd2
General protein information	Preferred Names peripherin 2 Names peripherin-2 peripherin 2 (retinal degeneration, slow) peripherin 2, homolog of mouse peripherin, photoreceptor type retinal degeneration slow protein retinal peripherin tetraspanin-22 tspan-22
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 6 Map Location: 6p21.1
Summary	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008].
Disorder MIM:	179605
Disorder Html:	Retinitis pigmentosa 7 and digenic, 608133 (3); Leber congenital amaurosis 18, 608133 (3); Macular dystrophy, patterned, 1, 169150 (3); Retinitis punctata albescens, 136880 (3); Choroidal dystrophy, central areolar 2, 613105 (3); Macular dystrophy, vitelliform, 3, 608161 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000322.4	NP_000313.2	peripherin-2
NM_000322.5	NP_000313.2	peripherin-2

Pathways from BioSystems

Homologies

Mus musculus (house mouse)	Prph2	NP_032964.1
Rattus norvegicus (Norway rat)	Prph2	NP_037153.1
	PRPH2	XP_001088507.1
Pan troglodytes (chimpanzee)	PRPH2	XP_001134673.1
Gallus gallus (chicken)	PRPH2	NP_990369.1
Homo sapiens (human)	PRPH2	NP_000313.2
Danio rerio (zebrafish)	prph2a	NP_571641.1
Danio rerio (zebrafish)	prph2b	NP_571642.1
Xenopus tropicalis (tropical clawed frog)	prph2	XP_002934729.1
Canis lupus familiaris (dog)	PRPH2	NP_001003289.1
Bos taurus (cattle)	PRPH2	NP_001159959.1

Gene Ontology
Bibliography

Related articles in PubMed

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Ramkumar HL, Gudiseva HV, Kishaba KT, Suk JJ, Verma R, Tadimeti K, Thorson JA, Ayyagari R
Genetic testing and molecular biomarkers21(2)66-73(2017 Feb)

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Conley SM, Stuck MW, Watson JN, Naash MI
Human molecular genetics26(3)509-518(2017 02)

Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP
Molecular vision23470-481(2017)

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

Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (2), PRPH2 (1), and TIMP3
Title: A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype
Title: Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.

there are phenotypic variabilities of late-onset or nonpenetrance in individuals who carried the R172W mutation of the PRPH2 gene. The phenotypes ranged from severe cone-rod dystrophy to asymptomatic individuals with normal retinal function
Title: High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation.

In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis.
Title: Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.

These results support the idea that mutations may differentially affect Prph2's role as a structural component, and its role as a functional protein key for organizing membrane domains for cellular signalling. These roles may be different in rods and cones, thus contributing to the phenotypic heterogeneity that characterizes diseases associated with Prph2 mutations.
Title: The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.

The following PRPH2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PRPH2 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)
OHu24375	NM_000322.5 Latest version!	Homo sapiens peripherin 2 (PRPH2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$159.50-$223.30 $319.00
View Old Accession Versions >>
OHu24375	NM_000322.4	Homo sapiens peripherin 2 (PRPH2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$265.30 $379.00
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)

PRPH2 ( NM_000322.5 ) cDNA ORF clone, Homo sapiens(human) -> NP_000313.2 Homo sapiens peripherin 2 (PRPH2), mRNA.

Price & Availability↑

CloneID	OHu24375
Clone ID Related Accession (Same CDS sequence)	NM_000322.4 , NM_000322.5
Accession Version	NM_000322.5 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1041bp) 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	2019-12-29
Organism	Homo sapiens(human)
Product	peripherin-2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL049843.18 and BC074720.2. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_000322.4. 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 :: SRR1803611.105378.1, SRR1803614.121211.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230381.7/ ENSP00000230381.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCGCTAC TGAAAGTCAA GTTTGACCAG AAGAAGCGGG TCAAGTTGGC CCAAGGGCTC 
TGGCTCATGA ACTGGTTCTC CGTGTTGGCT GGCATCATCA TCTTCAGCCT AGGACTGTTC 
CTGAAGATTG AACTCCGAAA GAGGAGCGAT GTGATGAATA ATTCTGAGAG CCATTTTGTG 
CCCAACTCAT TGATAGGGAT GGGGGTGCTA TCCTGTGTCT TCAACTCGCT GGCTGGGAAG 
ATCTGCTACG ACGCCCTGGA CCCAGCCAAG TATGCCAGAT GGAAGCCCTG GCTGAAGCCG 
TACCTGGCTA TCTGTGTTCT CTTCAACATC ATCCTCTTCC TTGTGGCTCT CTGCTGCTTT 
CTGCTTCGGG GCTCGCTGGA GAACACCCTG GGCCAAGGGC TCAAGAACGG CATGAAGTAC 
TACCGGGACA CAGACACCCC TGGCAGGTGT TTCATGAAGA AGACCATCGA CATGCTGCAG 
ATCGAGTTCA AATGCTGCGG CAACAACGGT TTTCGGGACT GGTTTGAGAT TCAGTGGATC 
AGCAATCGCT ACCTGGACTT TTCCTCCAAA GAAGTCAAAG ATCGAATCAA GAGCAACGTG 
GATGGGCGGT ACCTGGTGGA CGGCGTCCCT TTCAGCTGCT GCAATCCTAG CTCGCCACGG 
CCCTGCATCC AGTATCAGAT CACCAACAAC TCAGCACACT ACAGTTACGA CCACCAGACG 
GAGGAGCTCA ACCTGTGGGT GCGTGGCTGC AGGGCTGCCC TGCTGAGCTA CTACAGCAGC 
CTCATGAACT CCATGGGTGT CGTCACGCTC CTCATTTGGC TCTTCGAGGT GACCATTACA 
ATTGGGCTGC GCTACCTACA GACGTCGCTG GATGGTGTGT CCAACCCCGA GGAATCTGAG 
AGCGAGAGCC AGGGCTGGCT GCTGGAGAGG AGCGTGCCGG AGACCTGGAA GGCCTTTCTG 
GAGAGTGTGA AGAAGCTGGG CAAGGGCAAC CAGGTGGAAG CCGAGGGCGC AGACGCAGGC 
CAGGCCCCAG AGGCTGGCTG A

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

RefSeq	NP_000313.2
CDS	264..1304
Translation	MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAGQAPEAG

Target ORF information:

RefSeq Version	NM_000322.5
Organism	Homo sapiens(human)
Definition	Homo sapiens peripherin 2 (PRPH2), mRNA.

Target ORF information:

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

NM_000322.5

ORF Insert Sequence:

ATGGCGCTAC TGAAAGTCAA GTTTGACCAG AAGAAGCGGG TCAAGTTGGC CCAAGGGCTC 
TGGCTCATGA ACTGGTTCTC CGTGTTGGCT GGCATCATCA TCTTCAGCCT AGGACTGTTC 
CTGAAGATTG AACTCCGAAA GAGGAGCGAT GTGATGAATA ATTCTGAGAG CCATTTTGTG 
CCCAACTCAT TGATAGGGAT GGGGGTGCTA TCCTGTGTCT TCAACTCGCT GGCTGGGAAG 
ATCTGCTACG ACGCCCTGGA CCCAGCCAAG TATGCCAGAT GGAAGCCCTG GCTGAAGCCG 
TACCTGGCTA TCTGTGTTCT CTTCAACATC ATCCTCTTCC TTGTGGCTCT CTGCTGCTTT 
CTGCTTCGGG GCTCGCTGGA GAACACCCTG GGCCAAGGGC TCAAGAACGG CATGAAGTAC 
TACCGGGACA CAGACACCCC TGGCAGGTGT TTCATGAAGA AGACCATCGA CATGCTGCAG 
ATCGAGTTCA AATGCTGCGG CAACAACGGT TTTCGGGACT GGTTTGAGAT TCAGTGGATC 
AGCAATCGCT ACCTGGACTT TTCCTCCAAA GAAGTCAAAG ATCGAATCAA GAGCAACGTG 
GATGGGCGGT ACCTGGTGGA CGGCGTCCCT TTCAGCTGCT GCAATCCTAG CTCGCCACGG 
CCCTGCATCC AGTATCAGAT CACCAACAAC TCAGCACACT ACAGTTACGA CCACCAGACG 
GAGGAGCTCA ACCTGTGGGT GCGTGGCTGC AGGGCTGCCC TGCTGAGCTA CTACAGCAGC 
CTCATGAACT CCATGGGTGT CGTCACGCTC CTCATTTGGC TCTTCGAGGT GACCATTACA 
ATTGGGCTGC GCTACCTACA GACGTCGCTG GATGGTGTGT CCAACCCCGA GGAATCTGAG 
AGCGAGAGCC AGGGCTGGCT GCTGGAGAGG AGCGTGCCGG AGACCTGGAA GGCCTTTCTG 
GAGAGTGTGA AGAAGCTGGG CAAGGGCAAC CAGGTGGAAG CCGAGGGCGC AGACGCAGGC 
CAGGCCCCAG AGGCTGGCTG A

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

PRPH2 ( NM_000322.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_000313.2 Homo sapiens peripherin 2 (PRPH2), mRNA.

Price & Availability↑

CloneID	OHu24375
Clone ID Related Accession (Same CDS sequence)	NM_000322.4 , NM_000322.5
Accession Version	NM_000322.4	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1041bp) 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	peripherin-2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL049843.18 and BC074720.2. This sequence is a reference standard in the RefSeqGene project. On Jul 15, 2008 this sequence version replaced NM_000322.3. 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 :: SRR1803611.105378.1, SRR1803614.121211.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCGCTAC TGAAAGTCAA GTTTGACCAG AAGAAGCGGG TCAAGTTGGC CCAAGGGCTC 
TGGCTCATGA ACTGGTTCTC CGTGTTGGCT GGCATCATCA TCTTCAGCCT AGGACTGTTC 
CTGAAGATTG AACTCCGAAA GAGGAGCGAT GTGATGAATA ATTCTGAGAG CCATTTTGTG 
CCCAACTCAT TGATAGGGAT GGGGGTGCTA TCCTGTGTCT TCAACTCGCT GGCTGGGAAG 
ATCTGCTACG ACGCCCTGGA CCCAGCCAAG TATGCCAGAT GGAAGCCCTG GCTGAAGCCG 
TACCTGGCTA TCTGTGTTCT CTTCAACATC ATCCTCTTCC TTGTGGCTCT CTGCTGCTTT 
CTGCTTCGGG GCTCGCTGGA GAACACCCTG GGCCAAGGGC TCAAGAACGG CATGAAGTAC 
TACCGGGACA CAGACACCCC TGGCAGGTGT TTCATGAAGA AGACCATCGA CATGCTGCAG 
ATCGAGTTCA AATGCTGCGG CAACAACGGT TTTCGGGACT GGTTTGAGAT TCAGTGGATC 
AGCAATCGCT ACCTGGACTT TTCCTCCAAA GAAGTCAAAG ATCGAATCAA GAGCAACGTG 
GATGGGCGGT ACCTGGTGGA CGGCGTCCCT TTCAGCTGCT GCAATCCTAG CTCGCCACGG 
CCCTGCATCC AGTATCAGAT CACCAACAAC TCAGCACACT ACAGTTACGA CCACCAGACG 
GAGGAGCTCA ACCTGTGGGT GCGTGGCTGC AGGGCTGCCC TGCTGAGCTA CTACAGCAGC 
CTCATGAACT CCATGGGTGT CGTCACGCTC CTCATTTGGC TCTTCGAGGT GACCATTACA 
ATTGGGCTGC GCTACCTACA GACGTCGCTG GATGGTGTGT CCAACCCCGA GGAATCTGAG 
AGCGAGAGCC AGGGCTGGCT GCTGGAGAGG AGCGTGCCGG AGACCTGGAA GGCCTTTCTG 
GAGAGTGTGA AGAAGCTGGG CAAGGGCAAC CAGGTGGAAG CCGAGGGCGC AGACGCAGGC 
CAGGCCCCAG AGGCTGGCTG A

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

RefSeq	NP_000313.2
CDS	287..1327
Translation	MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFLESVKKLGKGNQVEAEGADAGQAPEAG

Target ORF information:

RefSeq Version	NM_000322.4
Organism	Homo sapiens(human)
Definition	Homo sapiens peripherin 2 (PRPH2), mRNA.

Target ORF information:

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

NM_000322.4

ORF Insert Sequence:

ATGGCGCTAC TGAAAGTCAA GTTTGACCAG AAGAAGCGGG TCAAGTTGGC CCAAGGGCTC 
TGGCTCATGA ACTGGTTCTC CGTGTTGGCT GGCATCATCA TCTTCAGCCT AGGACTGTTC 
CTGAAGATTG AACTCCGAAA GAGGAGCGAT GTGATGAATA ATTCTGAGAG CCATTTTGTG 
CCCAACTCAT TGATAGGGAT GGGGGTGCTA TCCTGTGTCT TCAACTCGCT GGCTGGGAAG 
ATCTGCTACG ACGCCCTGGA CCCAGCCAAG TATGCCAGAT GGAAGCCCTG GCTGAAGCCG 
TACCTGGCTA TCTGTGTTCT CTTCAACATC ATCCTCTTCC TTGTGGCTCT CTGCTGCTTT 
CTGCTTCGGG GCTCGCTGGA GAACACCCTG GGCCAAGGGC TCAAGAACGG CATGAAGTAC 
TACCGGGACA CAGACACCCC TGGCAGGTGT TTCATGAAGA AGACCATCGA CATGCTGCAG 
ATCGAGTTCA AATGCTGCGG CAACAACGGT TTTCGGGACT GGTTTGAGAT TCAGTGGATC 
AGCAATCGCT ACCTGGACTT TTCCTCCAAA GAAGTCAAAG ATCGAATCAA GAGCAACGTG 
GATGGGCGGT ACCTGGTGGA CGGCGTCCCT TTCAGCTGCT GCAATCCTAG CTCGCCACGG 
CCCTGCATCC AGTATCAGAT CACCAACAAC TCAGCACACT ACAGTTACGA CCACCAGACG 
GAGGAGCTCA ACCTGTGGGT GCGTGGCTGC AGGGCTGCCC TGCTGAGCTA CTACAGCAGC 
CTCATGAACT CCATGGGTGT CGTCACGCTC CTCATTTGGC TCTTCGAGGT GACCATTACA 
ATTGGGCTGC GCTACCTACA GACGTCGCTG GATGGTGTGT CCAACCCCGA GGAATCTGAG 
AGCGAGAGCC AGGGCTGGCT GCTGGAGAGG AGCGTGCCGG AGACCTGGAA GGCCTTTCTG 
GAGAGTGTGA AGAAGCTGGG CAAGGGCAAC CAGGTGGAAG CCGAGGGCGC AGACGCAGGC 
CAGGCCCCAG AGGCTGGCTG A

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

PubMed

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Genetic testing and molecular biomarkers21(2)66-73(2017 Feb)
Ramkumar HL,Gudiseva HV,Kishaba KT,Suk JJ,Verma R,Tadimeti K,Thorson JA,Ayyagari R

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Human molecular genetics26(3)509-518(2017 02)
Conley SM,Stuck MW,Watson JN,Naash MI

Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Molecular vision23470-481(2017)
Jones KD,Wheaton DK,Bowne SJ,Sullivan LS,Birch DG,Chen R,Daiger SP

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PRPH2 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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