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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RP2 Gene

protein-coding GIFtS: 55
GCID: GC0XP046696

retinitis pigmentosa 2 (X-linked recessive)

Explore 17 diseases affiliated with
RP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Retinitis Pigmentosa 2 (X-Linked Recessive)¹ ²		DELXp11.3²
NM23-H10¹ ²		XRP2²
NME10¹ ²		Protein XRP2²
TBCCD2¹ ²

External Ids:	HGNC: 10274¹	Entrez Gene: 6102²	Ensembl: ENSG00000102218⁷	OMIM: 300757⁵	UniProtKB: O75695³

Export aliases for RP2 gene to outside databases

Previous GC identifers: GC0XP045499 GC0XP044957 GC0XP045742 GC0XP046452 GC0XP046581 GC0XP044407

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RP2:

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)

UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695

Function: Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane.

Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3,

leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with

tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation

inhibitor towards ADP-ribosylation factor-like proteins

Gene Wiki entry for RP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_079573.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RP2 gene promoter:
MEF-2A AML1a POU2F1 POU2F1a HSF2 Chx10 Cart-1 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RP2 promoter sequence

Search SABiosciences Chromatin IP Primers for RP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.3 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.3

RP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RP2 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP046696: view genomic region (about GC identifiers)

Start:	46,696,347 bp from pter	End:	46,741,793 bp from pter
Size:	45,447 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695 (See protein sequence)

Recommended Name: Protein XRP2

Size: 350 amino acids; 39641 Da

Subunit: Found in a complex with ARL3, RP2 and UNC119 (or UNC119B); RP2 induces hydrolysis of GTP ARL3 in the complex,

leading to the release of UNC119 (or UNC119B). Interacts with ARL3; interaction is direct and stimulated with the

activated GTP-bound form of ARL3

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side. Cell projection, cilium. Note=Detected

predominantly to the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus

3 PDB 3D structures from and Proteopedia for RP2:

2BX6 (3D)

3BH6 (3D)

3BH7 (3D)

Secondary accessions: Q86XJ7 Q9NU67

Explore the universe of human proteins at neXtProt for RP2: NX_O75695

Post-translational modifications:

Myristoylated on Gly-2; which may be required for membrane targeting (Probable)¹

Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets the

protein to internal membranes¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75695

RP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_008846.2

ENSEMBL proteins:

ENSP00000218340

Human Recombinant Protein Products:

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	Novus Biologicals RP2 Proteins Novus Biologicals RP2 Lysates
	Sino Biological Recombinant Protein for RP2
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RP2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	12417528
GO:0005886	plasma membrane	IDA	12417528
GO:0005929	cilium	IEA	--

RP2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for RP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RP2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR016098 CAP/MinC_C

IPR001564 Nucleoside_diP_kinase

IPR006599 CARP_motif

IPR017332 Protein_XRP2

IPR017901 C-CAP_CF_C-like

Graphical View of Domain Structure for InterPro Entry O75695

ProtoNet protein and cluster: O75695

1 Blocks protein family: IPB012945 Tubulin binding cofactor C

UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695

Similarity: Belongs to the TBCC family

Similarity: Contains 1 C-CAP/cofactor C-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695

Function: Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane.

Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3,

leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with

tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation

inhibitor towards ADP-ribosylation factor-like proteins

Genatlas biochemistry entry for RP2:

gene ubiquitously expressed,with significant homology to cofactor C,involved in beta-tubulin folding

miRNA Products:		OriGene 3'-UTR Clone: RP2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP2
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate RP2 (see all 34):
		hsa-miR-218-1* hsa-miR-4305 hsa-miR-9 hsa-miR-556-3p hsa-miR-181b hsa-miR-3163 hsa-miR-4324 hsa-miR-181a

		SwitchGear 3'UTR luciferase reporter plasmid: RP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RP2 (see all 4) OriGene shRNA RFP: RP2 OriGene siRNA: RP2
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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP2

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004550	nucleoside diphosphate kinase activity	IEA	--
GO:0005096	GTPase activator activity	IDA	18376416
GO:0005515	protein binding	IPI	18376416
GO:0005524	ATP binding	IEA	--
GO:0005525	GTP binding	IEA	--

RP2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for RP2:

Synthetic lethal with c-Myc af

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RP2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5 Interacting proteins for RP2 (O75695^{2, 3} ENSP00000218340⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARL3	P36405²^,³, ENSP00000260746⁴	MINT-6602347 MINT-6602360 MINT-6602369 I2D: score=3 STRING: ENSP00000260746
UNC119	Q13432², ENSP00000337040⁴	MINT-6602347 MINT-6602360 MINT-6602369 STRING: ENSP00000337040
APLP2	Q06481³	I2D: score=1
YWHAB	P31946³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000902	cell morphogenesis	IEA	--
GO:0006183	GTP biosynthetic process	IEA	--
GO:0006228	UTP biosynthetic process	IEA	--
GO:0006241	CTP biosynthetic process	IEA	--
GO:0006457	protein folding	TAS	9697692

RP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RP2

3 HMDB Compounds for RP2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Search CenterWatch for drugs/clinical trials and news about RP2 / XRP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RP2 gene:

NM_006915.2

Unigene Cluster for RP2:

Retinitis pigmentosa 2 (X-linked recessive)

Hs.44766 [show with all ESTs]

Unigene Representative Sequence: NM_006915

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000218340(uc004dgw.4)

miRNA Products:		OriGene 3'-UTR Clone: RP2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP2
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate RP2 (see all 34):
		hsa-miR-218-1* hsa-miR-4305 hsa-miR-9 hsa-miR-556-3p hsa-miR-181b hsa-miR-3163 hsa-miR-4324 hsa-miR-181a

		SwitchGear 3'UTR luciferase reporter plasmid: RP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RP2

Additional cDNA sequence:

AJ007590.1 AK312555.1 AL049366.1 BC027851.1 BC043348.2 BC053530.1

2 DOTS entries:

DT.108706 DT.91664728

24/69 AceView cDNA sequences (see all 69):

BC053530 CA307411 AL543198 BI020123 AL049366 BX106200 AW674269 AA885767

AI824459 BQ019722 BU181281 BU619730 BC027851 BU616754 AI610511 CA748579

BC043348 AW503300 AW473707 AJ007590 AL079912 BG677369 CF995062 AL121304

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

RP2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Spermatid

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RP2

SOURCE GeneReport for Unigene cluster: Hs.44766

UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695

Tissue specificity: Ubiquitous. Expressed in the rod and cone photoreceptors, extending from the tips of the outer

segment (OS) through the inner segment (IS) and outer nuclear layer (ONL) and into the synaptic terminals of the outer

plexiform layer (ONL). Also detected in the bipolar, horizontal and amacrine cells in the inner nuclear layer (INL),

extending to the inner plexiform layer (IPL) and though the ganglion cell layer (GCL) and into the nerve fiber layer

(NFL) (at protein level)

SABiosciences Custom PCR Arrays for RP2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RP2 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rp2h^{1 , 5}	retinitis pigmentosa 2 homolog (human)^{1, 5}	86.55(n)¹ 88.76(a)¹		X (15.83 cM)⁵ 19889¹ NM_133669.4¹ NP_598430.1¹ 20364481⁵
chicken (Gallus gallus)	Aves	RP2¹	retinitis pigmentosa 2 (X-linked recessive)	77.52(n) 80.29(a)		418675 NM_001008680.1 NP_001008680.1
lizard (Anolis carolinensis)	Reptilia	RP2⁶	--	74(a)	1 ↔ 1	3(112022687-112036399)
African clawed frog (Xenopus laevis)	Amphibia	rp2-prov²	retinitis pigmentosa 2 (X-linked recessive)	76.46(n)		BC041222.1
zebrafish (Danio rerio)	Actinopterygii	Dr.9089²	Danio rerio mRNA similar to retinitis pigmentosa 2 more	74.92(n)		BC046879.1
worm (Caenorhabditis elegans)	Secernentea	rpi-2⁶	Protein RPI-2	26(a)	possible ortholog	IV(1711278-1714178)

ENSEMBL Gene Tree for RP2 (if available)
TreeFam Gene Tree for RP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RP2 gene

TBCC²

RP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894925^1,2	C	pathogenic	46696611(+)	`CAAAGC/TAGTAC`	2	Q *	stg¹		0	--	--	--	--
rs28933687^1,2	C	pathogenic	46713161(+)	`ATTTCA/G/TTGTGC`	3	H R L	mis¹		1		NA	2
rs104894926^1,2	C	pathogenic	46713261(+)	`TGGTAC/GTATCC`	2	Y *	stg¹		0	--	--	--	--
rs201788843^1,2	C,	--	46694673(+)	`GCCCG-/CCCCCC`	1	--	us2k¹		0	--	--	--	--
rs185103846^1,2		--	46694731(+)	`TCTGTC/TGCCCA`	1	--	us2k¹		0	--	--	--	--
rs189282782^1,2		--	46694997(+)	`CACCGC/TGCCCG`	1	--	us2k¹		0	--	--	--	--
rs143629876^1,2		--	46695292(+)	`GCCTGA/GGCGAC`	1	--	us2k¹		0	--	--	--	--
rs192198560^1,2		--	46695633(+)	`TTGTAA/GTTCCA`	1	--	us2k¹		0	--	--	--	--
rs6609440^1,2	C,	--	46695672(+)	`GGATCG/TCTTGA`	1	--	us2k¹		2		NA CSA	3
rs143023548^1,2		--	46695751(+)	`TGACAC/TAGCGA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RP2 (46696347 - 46741793 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RP2: --
Human Gene Mutation Database (HGMD): RP2

Locus Specific Mutation Databases (LSDB): RP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RP2

DNA2.0 Custom Variant and Variant Library Synthesis for RP2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RP2 for disorders           About GeneDecksing

OMIM gene information: 300757
OMIM disorders: 312600
UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695

Defects in RP2 are the cause of retinitis pigmentosa type 2 (RP2) [MIM:312600]; also known as X-linked

retinitis pigmentosa 2 (XLRP-2). RP leads to degeneration of retinal photoreceptor cells. Patients typically have

night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far

peripheral visual field and eventually central vision as well

17 diseases for RP2: About MalaCards

retinitis pigmentosa retinitis pigmentosa 2, x linked retinitis pigmentosa-2 retinitis

retinal degeneration aland island eye disease cone-rod dystrophy leber hereditary optic neuropathy

night blindness x inactivation myopia neuronitis

blindness eye disease neuropathy retinal disease

malaria

2 diseases from the University of Copenhagen DISEASES database for RP2:

Aland Island eye disease Retinitis pigmentosa

7 Novoseek disease relationships for RP2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinitis pigmentosa	93.1	49	10634633 (4), 20021257 (3), 11020419 (2), 16472755 (2) (see all 32)
night blindness	80.4	1	1357178 (1)
retinal degeneration	75.1	5	10634633 (1), 9697692 (1), 10862093 (1), 11371510 (1) (see all 5)
myopia	53.6	4	20021257 (1), 1357178 (1), 17724181 (1), 17093403 (1)
retinitis	48.5	1	10401005 (1)
retinopathy	46.6	2	14566651 (1), 15031171 (1)
atrophy	0	1	15031171 (1)

Genatlas disease: RP2

retinitis pigmentosa 2,X-linked,putatively due to the accumulation of incorrectly-folded photoreceptor or

neuron-specific tubulin isoforms followed by progressive cell death

Genetic Association Database (GAD): RP2
Human Genome Epidemiology (HuGE) Navigator: RP2 (9 documents)

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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RP2 gene, integrated from 9 sources (see all 79):
(articles sorted by number of sources associating them with RP2)

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RP2 and RPGR mutations and clinical correlations in patients with X- linked retinitis pigmentosa. (PubMed id 14564670)^{1, 2, 4, 9} Sharon D....Berson E.L. (2003)
Positional cloning of the gene for X-linked retinitis pigmentosa 2. (PubMed id 9697692)^{1, 2, 3, 9} Schwahn U.... Berger W. (1998)
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. (PubMed id 12417528)^{1, 2, 9} Grayson C....Cheetham M.E. (2002)
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. (PubMed id 11462235)^{1, 2, 9} Miano M.G.... Ciccodicola A. (2001)
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. (PubMed id 10937588)^{1, 2, 9} Sharon D....Dryja T.P. (2000)
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). (PubMed id 10520237)^{1, 2, 9} Rosenberg T.... Berger W. (1999)
Novel frameshift mutations in the RP2 gene and polymorphic variants. (PubMed id 10862093)^{1, 2, 9} Thiselton D.L.... Hardcastle A.J. (2000)
A new Leu253Arg mutation in the RP2 gene in a Japanese family with X- linked retinitis pigmentosa. (PubMed id 10634633)^{1, 2, 9} Wada Y.... Tamai M. (2000)
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. (PubMed id 10942419)^{1, 2, 9} Chapple J.P.... Cheetham M.E. (2000)
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. (PubMed id 18376416)^{1, 2, 9} Veltel S....Wittinghofer A. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6102	HGNC: 10274	AceView: RP2	Ensembl:ENSG00000102218	euGenes: HUgn6102
ECgene: RP2	H-InvDB: RP2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RP2	Pharmacogenomics, SNPs, Pathways
Mutations of the RP2 gene	http://www.retina-international.org/files/sci-news/rp2mut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP2

Intellectual Property for RP2 gene
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Patent Information for RP2 gene:
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retinitis pigmentosa 2 (X-linked recessive)

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RP2 Gene

retinitis pigmentosa 2 (X-linked recessive)

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