RP2 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	RP2
Entrez Gene ID	6102
Full Name	RP2, ARL3 GTPase activating protein
Synonyms	DELXp11.3,NM23-H10,NME10,TBCCD2,XRP2
General protein information	Preferred Names RP2, ARL3 GTPase activating protein Names protein XRP2 retinitis pigmentosa 2 (X-linked recessive)
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xp11.3
Summary	The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008].
Disorder MIM:	300757
Disorder Html:	Retinitis pigmentosa 2, 312600 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_006915.3	NP_008846.2	protein XRP2
NM_006915.2	NP_008846.2	protein XRP2

Pathways from BioSystems

Homologies

Mus musculus (house mouse)	Rp2h	NP_598430.1
Rattus norvegicus (Norway rat)	Rp2	NP_001102482.1
Xenopus tropicalis (tropical clawed frog)	rp2	XP_002937023.1
Pan troglodytes (chimpanzee)	RP2	XP_521029.2
Canis lupus familiaris (dog)	RP2	XP_548972.2
Bos taurus (cattle)	RP2	NP_001030480.1
Gallus gallus (chicken)	RP2	NP_001008680.1
Homo sapiens (human)	RP2	NP_008846.2
Danio rerio (zebrafish)	rp2	NP_998611.1

Gene Ontology
Bibliography

Related articles in PubMed

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu F, Qin Y, Yu S, Soares DC, Yang L, Weng J, Li C, Gao M, Lu Z, Hu X, Liu X, Jiang T, Liu JY, Shu X, Tang Z, Liu M
The Journal of biological chemistry292(15)6225-6239(2017 04)

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Jiang J, Wu X, Shen D, Dong L, Jiao X, Hejtmancik JF, Li N
Scientific reports744465(2017 Mar)

Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
Lyraki R, Megaw R, Hurd T
Biochemical Society transactions44(5)1235-1244(2016 10)

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

study also reveals a role of the C-terminal domain of RP2 in maintaining the overall protein stability.
Title: Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.

Three XLRP families (RP-001, RP-002, and RP-003), composed of 13 individuals, were reported in this study, and 2 different mutations were detcted We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene
Title: Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.

We identified a novel causative mutation in RP2 from a single proband's exome sequence data analysis. This study highlights the effectiveness of the whole-exome sequencing in the genetic diagnosis of X-linked retinitis pigmentosa, over the conventional sequencing methods.
Title: Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa.

Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or retinitis pigmentosa 2 protein (RP2) genes.
Title: Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.

Three mutations were identified in the ORF15 exon of RPGR. No RP2 mutations were found among the examined families. Mutation screening of RP patients is essential to understand the mechanism behind this disease and develop treatments
Title: Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.

The following RP2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the RP2 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)
OHu22150	NM_006915.3 Latest version!	Homo sapiens RP2 activator of ARL3 GTPase (RP2), 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 >>
OHu22150	NM_006915.2	Homo sapiens RP2, ARL3 GTPase activating protein (RP2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$159.50-$223.30 $319.00
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)

RP2 ( NM_006915.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_008846.2 Homo sapiens RP2 activator of ARL3 GTPase (RP2), mRNA.

Price & Availability↑

CloneID	OHu22150
Clone ID Related Accession (Same CDS sequence)	NM_006915.3 , NM_006915.2
Accession Version	NM_006915.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1053bp) 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	2019-09-09
Organism	Homo sapiens(human)
Product	protein XRP2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC053530.1 and AL627143.15. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_006915.2. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: BC043348.2, SRR1660803.127077.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218340.4/ ENSP00000218340.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGGCTGCT TCTTCTCCAA GAGACGGAAG GCTGACAAGG AGTCGCGGCC CGAGAACGAG 
GAGGAGCGGC CAAAGCAGTA CAGCTGGGAT CAGCGCGAGA AGGTTGATCC AAAAGACTAC 
ATGTTCAGTG GACTGAAGGA TGAAACAGTA GGTCGCTTAC CTGGGACGGT AGCAGGACAA 
CAGTTTCTCA TTCAAGACTG TGAGAACTGT AACATCTATA TTTTTGATCA CTCTGCTACA 
GTTACCATTG ATGACTGTAC TAACTGCATA ATTTTTCTGG GACCCGTGAA AGGCAGCGTG 
TTTTTCCGGA ATTGCAGAGA TTGCAAGTGC ACATTAGCCT GCCAACAATT TCGTGTGCGA 
GATTGTAGAA AGCTGGAAGT CTTTTTGTGT TGTGCCACTC AACCCATCAT TGAGTCTTCC 
TCAAATATCA AATTTGGATG TTTTCAATGG TACTATCCTG AATTAGCTTT CCAGTTCAAA 
GATGCAGGGC TAAGTATCTT CAACAATACA TGGAGTAACA TTCATGACTT TACACCTGTG 
TCAGGAGAAC TCAACTGGAG CCTTCTTCCA GAAGATGCTG TGGTTCAGGA CTATGTTCCT 
ATACCTACTA CCGAAGAGCT CAAAGCTGTT CGTGTTTCCA CAGAAGCCAA TAGAAGCATT 
GTTCCAATAT CCCGGGGTCA GAGACAGAAG AGCAGCGATG AATCATGCTT AGTGGTATTA 
TTTGCTGGTG ATTACACTAT TGCAAATGCC AGAAAACTAA TTGATGAGAT GGTTGGTAAA 
GGCTTTTTCC TAGTTCAGAC AAAGGAAGTG TCCATGAAAG CTGAGGATGC TCAAAGGGTT 
TTTCGGGAAA AAGCACCTGA CTTCCTTCCT CTTCTGAACA AAGGTCCTGT TATTGCCTTG 
GAGTTTAATG GGGATGGTGC TGTAGAAGTA TGTCAACTTA TTGTAAACGA GATATTCAAT 
GGGACCAAGA TGTTTGTATC TGAAAGCAAG GAGACGGCAT CTGGAGATGT AGACAGCTTC 
TACAACTTTG CTGATATACA GATGGGAATA TGA

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

RefSeq	NP_008846.2
CDS	59..1111
Translation	MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENCNIYIFDHSATVTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFKDAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISRGQRQKSSDESCLVVLFAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFNGTKMFVSESKETASGDVDSFYNFADIQMGI

Target ORF information:

RefSeq Version	NM_006915.3
Organism	Homo sapiens(human)
Definition	Homo sapiens RP2 activator of ARL3 GTPase (RP2), mRNA.

Target ORF information:

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

NM_006915.3

ORF Insert Sequence:

ATGGGCTGCT TCTTCTCCAA GAGACGGAAG GCTGACAAGG AGTCGCGGCC CGAGAACGAG 
GAGGAGCGGC CAAAGCAGTA CAGCTGGGAT CAGCGCGAGA AGGTTGATCC AAAAGACTAC 
ATGTTCAGTG GACTGAAGGA TGAAACAGTA GGTCGCTTAC CTGGGACGGT AGCAGGACAA 
CAGTTTCTCA TTCAAGACTG TGAGAACTGT AACATCTATA TTTTTGATCA CTCTGCTACA 
GTTACCATTG ATGACTGTAC TAACTGCATA ATTTTTCTGG GACCCGTGAA AGGCAGCGTG 
TTTTTCCGGA ATTGCAGAGA TTGCAAGTGC ACATTAGCCT GCCAACAATT TCGTGTGCGA 
GATTGTAGAA AGCTGGAAGT CTTTTTGTGT TGTGCCACTC AACCCATCAT TGAGTCTTCC 
TCAAATATCA AATTTGGATG TTTTCAATGG TACTATCCTG AATTAGCTTT CCAGTTCAAA 
GATGCAGGGC TAAGTATCTT CAACAATACA TGGAGTAACA TTCATGACTT TACACCTGTG 
TCAGGAGAAC TCAACTGGAG CCTTCTTCCA GAAGATGCTG TGGTTCAGGA CTATGTTCCT 
ATACCTACTA CCGAAGAGCT CAAAGCTGTT CGTGTTTCCA CAGAAGCCAA TAGAAGCATT 
GTTCCAATAT CCCGGGGTCA GAGACAGAAG AGCAGCGATG AATCATGCTT AGTGGTATTA 
TTTGCTGGTG ATTACACTAT TGCAAATGCC AGAAAACTAA TTGATGAGAT GGTTGGTAAA 
GGCTTTTTCC TAGTTCAGAC AAAGGAAGTG TCCATGAAAG CTGAGGATGC TCAAAGGGTT 
TTTCGGGAAA AAGCACCTGA CTTCCTTCCT CTTCTGAACA AAGGTCCTGT TATTGCCTTG 
GAGTTTAATG GGGATGGTGC TGTAGAAGTA TGTCAACTTA TTGTAAACGA GATATTCAAT 
GGGACCAAGA TGTTTGTATC TGAAAGCAAG GAGACGGCAT CTGGAGATGT AGACAGCTTC 
TACAACTTTG CTGATATACA GATGGGAATA TGA

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

RP2 ( NM_006915.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_008846.2 Homo sapiens RP2, ARL3 GTPase activating protein (RP2), mRNA.

Price & Availability↑

CloneID	OHu22150
Clone ID Related Accession (Same CDS sequence)	NM_006915.3 , NM_006915.2
Accession Version	NM_006915.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1053bp) 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	protein XRP2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA211161.1, BC053530.1 and AL627143.15. This sequence is a reference standard in the RefSeqGene project. On Mar 16, 2008 this sequence version replaced NM_006915.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: AJ007590.1, SRR1803611.68920.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGGCTGCT TCTTCTCCAA GAGACGGAAG GCTGACAAGG AGTCGCGGCC CGAGAACGAG 
GAGGAGCGGC CAAAGCAGTA CAGCTGGGAT CAGCGCGAGA AGGTTGATCC AAAAGACTAC 
ATGTTCAGTG GACTGAAGGA TGAAACAGTA GGTCGCTTAC CTGGGACGGT AGCAGGACAA 
CAGTTTCTCA TTCAAGACTG TGAGAACTGT AACATCTATA TTTTTGATCA CTCTGCTACA 
GTTACCATTG ATGACTGTAC TAACTGCATA ATTTTTCTGG GACCCGTGAA AGGCAGCGTG 
TTTTTCCGGA ATTGCAGAGA TTGCAAGTGC ACATTAGCCT GCCAACAATT TCGTGTGCGA 
GATTGTAGAA AGCTGGAAGT CTTTTTGTGT TGTGCCACTC AACCCATCAT TGAGTCTTCC 
TCAAATATCA AATTTGGATG TTTTCAATGG TACTATCCTG AATTAGCTTT CCAGTTCAAA 
GATGCAGGGC TAAGTATCTT CAACAATACA TGGAGTAACA TTCATGACTT TACACCTGTG 
TCAGGAGAAC TCAACTGGAG CCTTCTTCCA GAAGATGCTG TGGTTCAGGA CTATGTTCCT 
ATACCTACTA CCGAAGAGCT CAAAGCTGTT CGTGTTTCCA CAGAAGCCAA TAGAAGCATT 
GTTCCAATAT CCCGGGGTCA GAGACAGAAG AGCAGCGATG AATCATGCTT AGTGGTATTA 
TTTGCTGGTG ATTACACTAT TGCAAATGCC AGAAAACTAA TTGATGAGAT GGTTGGTAAA 
GGCTTTTTCC TAGTTCAGAC AAAGGAAGTG TCCATGAAAG CTGAGGATGC TCAAAGGGTT 
TTTCGGGAAA AAGCACCTGA CTTCCTTCCT CTTCTGAACA AAGGTCCTGT TATTGCCTTG 
GAGTTTAATG GGGATGGTGC TGTAGAAGTA TGTCAACTTA TTGTAAACGA GATATTCAAT 
GGGACCAAGA TGTTTGTATC TGAAAGCAAG GAGACGGCAT CTGGAGATGT AGACAGCTTC 
TACAACTTTG CTGATATACA GATGGGAATA TGA

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

RefSeq	NP_008846.2
CDS	190..1242
Translation	MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENCNIYIFDHSATVTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFKDAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISRGQRQKSSDESCLVVLFAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFNGTKMFVSESKETASGDVDSFYNFADIQMGI

Target ORF information:

RefSeq Version	NM_006915.2
Organism	Homo sapiens(human)
Definition	Homo sapiens RP2, ARL3 GTPase activating protein (RP2), mRNA.

Target ORF information:

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

NM_006915.2

ORF Insert Sequence:

ATGGGCTGCT TCTTCTCCAA GAGACGGAAG GCTGACAAGG AGTCGCGGCC CGAGAACGAG 
GAGGAGCGGC CAAAGCAGTA CAGCTGGGAT CAGCGCGAGA AGGTTGATCC AAAAGACTAC 
ATGTTCAGTG GACTGAAGGA TGAAACAGTA GGTCGCTTAC CTGGGACGGT AGCAGGACAA 
CAGTTTCTCA TTCAAGACTG TGAGAACTGT AACATCTATA TTTTTGATCA CTCTGCTACA 
GTTACCATTG ATGACTGTAC TAACTGCATA ATTTTTCTGG GACCCGTGAA AGGCAGCGTG 
TTTTTCCGGA ATTGCAGAGA TTGCAAGTGC ACATTAGCCT GCCAACAATT TCGTGTGCGA 
GATTGTAGAA AGCTGGAAGT CTTTTTGTGT TGTGCCACTC AACCCATCAT TGAGTCTTCC 
TCAAATATCA AATTTGGATG TTTTCAATGG TACTATCCTG AATTAGCTTT CCAGTTCAAA 
GATGCAGGGC TAAGTATCTT CAACAATACA TGGAGTAACA TTCATGACTT TACACCTGTG 
TCAGGAGAAC TCAACTGGAG CCTTCTTCCA GAAGATGCTG TGGTTCAGGA CTATGTTCCT 
ATACCTACTA CCGAAGAGCT CAAAGCTGTT CGTGTTTCCA CAGAAGCCAA TAGAAGCATT 
GTTCCAATAT CCCGGGGTCA GAGACAGAAG AGCAGCGATG AATCATGCTT AGTGGTATTA 
TTTGCTGGTG ATTACACTAT TGCAAATGCC AGAAAACTAA TTGATGAGAT GGTTGGTAAA 
GGCTTTTTCC TAGTTCAGAC AAAGGAAGTG TCCATGAAAG CTGAGGATGC TCAAAGGGTT 
TTTCGGGAAA AAGCACCTGA CTTCCTTCCT CTTCTGAACA AAGGTCCTGT TATTGCCTTG 
GAGTTTAATG GGGATGGTGC TGTAGAAGTA TGTCAACTTA TTGTAAACGA GATATTCAAT 
GGGACCAAGA TGTTTGTATC TGAAAGCAAG GAGACGGCAT CTGGAGATGT AGACAGCTTC 
TACAACTTTG CTGATATACA GATGGGAATA TGA

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

PubMed

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
The Journal of biological chemistry292(15)6225-6239(2017 04)
Liu F,Qin Y,Yu S,Soares DC,Yang L,Weng J,Li C,Gao M,Lu Z,Hu X,Liu X,Jiang T,Liu JY,Shu X,Tang Z,Liu M

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Scientific reports744465(2017 Mar)
Jiang J,Wu X,Shen D,Dong L,Jiao X,Hejtmancik JF,Li N

Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
Biochemical Society transactions44(5)1235-1244(2016 10)
Lyraki R,Megaw R,Hurd T

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RP2 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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