1. Gene
  2. RP2 - RP2 activator of ARL3 GTPase Gene

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

RP2 Protein Structure

TBCC

TBCC: Tubulin binding cofactor C (59 - 177)

  • 0
  • 100
  • 200
  • 300
  • 350 a.a.
Protein Preferred Names Protein Names

protein XRP2

RP2, ARL3 GTPase activating protein

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

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