RP2 - RP2 activator of ARL3 GTPase Gene

Also Known as XRP2; NME10; TBCCD2; NM23-H10; DELXp11.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6102

About RP2

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:46,837,043-46,882,358 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 18.5), placenta (RPKM 13.6) and 24 other tissues.

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]

RP2 Products (1)

mRNA	Protein	Name
NM_006915.3	NP_008846.2	protein XRP2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	11847227	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	26455799	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11847227	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within post-Golgi vesicle-mediated transport	IGI IGI: Inferred from genetic interaction	20106869	GOA
acts upstream of or within post-Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	20106869	GOA
NOT involved in post-chaperonin tubulin folding pathway	IDA IDA: Inferred from direct assay	11847227	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in ciliary basal body	IDA IDA: Inferred from direct assay	20106869	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12417528	GOA
located in cytoplasmic vesicle	IGI IGI: Inferred from genetic interaction	20106869	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12417528	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RP2 Protein Structure

TBCC

0
100
200
300
350 a.a.

Protein Preferred Names	Protein Names
protein XRP2	RP2, ARL3 GTPase activating protein

RP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RP2	O75695	PM20D2	Homo sapiens	Q8IYS1	Y2H Prey Pooling	32296183
Intra	RP2	O75695	PM20D2	Homo sapiens	Q8IYS1	Y2H Array	32296183
Intra	RP2	O75695	PM20D2	Homo sapiens	Q8IYS1	Validated Y2H	32296183
Cross	RP2	O75695	Arl3	Mus musculus	Q9WUL7	X-Ray Diffraction	18376416
Cross	RP2	O75695	Arl3	Mus musculus	Q9WUL7	GMS	18376416
Cross	RP2	O75695	Arl3	Mus musculus	Q9WUL7	FPS	16472755
Cross	RP2	O75695	Arl3	Mus musculus	Q9WUL7	FPS	18376416

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74593	RP2 Protein, Human (sf9, GST)	O75695 (M1-T350)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 2	RP2 X-Linked Retinitis Pigmentosa 2 Xlrp2 Xlrp-2 Retinitis Pigmentosa-2 Retinitis Pigmentosa, Type 2
Retinitis Pigmentosa 3	RP3 Retinitis Pigmentosa 15 Rp15 Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women Cone-Rod Degeneration, X-Linked Retinitis Pigmentosa Type 15 X-Linked Cone-Rod Degeneration X-Linked Retinitis Pigmentosa 3 Xlrp3 Xlrp-3 Retinitis Pigmentosa-3 Retinitis Pigmentosa, Type 3
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Ciliary Dyskinesia, Primary, 6	Primary Ciliary Dyskinesia 6 CILD6 Ics6 Immotile Cilia Syndrome 6 Dyskinesia, Ciliary, Primary, 6
Retinal Degeneration	Degeneration Of Retina
Night Blindness	Nyctalopia
Retinitis Pigmentosa 13	RP13 Retinitis Pigmentosa-13 Retinitis Pigmentosa, Type 13
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Phase
HY-109067A	Opiranserin hydrochloride	Antagonist	99.62%	Phase 3
HY-109067	Opiranserin	Antagonist	/	Phase 3
HY-123857	JNJ-55308942	Antagonist	99.92%	Phase 2
HY-117508	JNJ-54175446	Antagonist	98.84%	Phase 2

Pre-clinical Phase

Bioactive Molecules (19)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112461A	NF449 octasodium	Antagonist	≥99.0%	Unkown
HY-122575	Aurintricarboxylic acid		92.0%	Unkown
HY-101911	5-BDBD	Antagonist	99.94%	Unkown
HY-15568	A-317491	Antagonist	98.64%	Unkown
HY-15568A	A-317491 sodium salt hydrate	Antagonist	99.88%	Unkown
HY-153710	P2X3 antagonist 38	Antagonist	/	Unkown
HY-176143	P2Y1/P2Y6 antagonist 1	Antagonist	/	Unkown
HY-179373	UB-MBX-46	Antagonist	/	Unkown
HY-RS09898	P2rx1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12140	RP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-112461	NF449	Antagonist	/	Unkown
HY-137648C	Rp-2'-O-Me-GTPαS tetrasodium		/	Unkown
HY-137649C	Rp-2'-O-Me-CTPαS tetrasodium		/	Unkown
HY-175135	Rp-2'-Deoxy-2'-fluoroadenosine-5'-O-1-thiotriphosphate sodium		/	Unkown
HY-176004	Rp-2'-Deoxyadenosine-5'-O-1-thiodiphosphate sodium		/	Unkown
HY-176005	Sp-2'-Deoxyadenosine-5'-O-1-thiodiphosphate sodium		/	Unkown
HY-RS17800	Rp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24268	Rp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28256	Rplp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RP2	VGNC	VGNC:45700
Macaca mulatta	RP2	VGNC	VGNC:76720
Rattus norvegicus	RP2	RGD	RGD:1565124
Mus musculus	RP2	MGD	MGI:1277953
Bos taurus	RP2	VGNC	VGNC:34092
Others	RP2	NCBI