RP2 - RP2 activator of ARL3 GTPase Gene

Homo sapiens

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

Gene ID: 6102 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Phase
HY-109067A	Opiranserin hydrochloride	Antagonist	99.44%	Phase 3
HY-109067	Opiranserin	Antagonist	/	Phase 3
HY-123857	JNJ-55308942	Antagonist	99.92%	Phase 2
HY-117508	JNJ-54175446	Antagonist	99.30%	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

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	98.77%	Unkown
HY-15568A	A-317491 sodium salt hydrate	Antagonist	99.88%	Unkown
HY-153710	P2X3 antagonist 38	Antagonist	/	Unkown
HY-RS12140	RP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-112461	NF449	Antagonist	/	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
Macaca fascicularis	RP2	NCBI	NCBI:102132768
Others	RP2	NCBI

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