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Aliases for RP2 Gene

Aliases for RP2 Gene

  • Retinitis Pigmentosa 2 (X-Linked Recessive) 2 3
  • Protein XRP2 3
  • DELXp11.3 3
  • NM23-H10 3
  • TBCCD2 3
  • NME10 3
  • XRP2 3

External Ids for RP2 Gene

Summaries for RP2 Gene

Entrez Gene Summary for RP2 Gene

  • 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]

GeneCards Summary for RP2 Gene

RP2 (Retinitis Pigmentosa 2 (X-Linked Recessive)) is a Protein Coding gene. Diseases associated with RP2 include retinitis pigmentosa 2 and rp2-related retinitis pigmentosa. GO annotations related to this gene include GTP binding and GTPase activator activity.

UniProtKB/Swiss-Prot for RP2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RP2 Gene

Genomics for RP2 Gene

Genomic Location for RP2 Gene

Start:
46,836,912 bp from pter
End:
46,882,358 bp from pter
Size:
45,447 bases
Orientation:
Plus strand

Genomic View for RP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RP2 Gene

Regulatory Elements for RP2 Gene

Proteins for RP2 Gene

  • Protein details for RP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75695-XRP2_HUMAN
    Recommended name:
    Protein XRP2
    Protein Accession:
    O75695
    Secondary Accessions:
    • Q86XJ7
    • Q9NU67

    Protein attributes for RP2 Gene

    Size:
    350 amino acids
    Molecular mass:
    39641 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for RP2 Gene

neXtProt entry for RP2 Gene

Proteomics data for RP2 Gene at MOPED

Post-translational modifications for RP2 Gene

  • Myristoylated on Gly-2; which may be required for membrane targeting.
  • Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets the protein to internal membranes.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys38 and Lys260

Other Protein References for RP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RP2 Gene

Domains for RP2 Gene

Suggested Antigen Peptide Sequences for RP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75695

UniProtKB/Swiss-Prot:

XRP2_HUMAN
Domain:
  • Contains 1 C-CAP/cofactor C-like domain.:
    • O75695
Family:
  • Belongs to the TBCC family.:
    • O75695
genes like me logo Genes that share domains with RP2: view

No data available for Gene Families for RP2 Gene

Function for RP2 Gene

Molecular function for RP2 Gene

GENATLAS Biochemistry: gene ubiquitously expressed,with significant homology to cofactor C,involved in beta-tubulin folding
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for RP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004550 nucleoside diphosphate kinase activity IEA --
GO:0005096 GTPase activator activity IDA 11847227
GO:0005515 protein binding IPI 11847227
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RP2: view

Phenotypes for RP2 Gene

GenomeRNAi human phenotypes for RP2:
genes like me logo Genes that share phenotypes with RP2: view

miRNA for RP2 Gene

miRTarBase miRNAs that target RP2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for RP2 Gene

Localization for RP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RP2 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RP2 Gene COMPARTMENTS Subcellular localization image for RP2 gene
Compartment Confidence
plasma membrane 5
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12417528
GO:0005794 Golgi apparatus IEA --
GO:0005814 centriole IEA --
GO:0005886 plasma membrane IDA 12417528
GO:0031410 cytoplasmic vesicle IGI 20106869
genes like me logo Genes that share ontologies with RP2: view

Pathways for RP2 Gene

SuperPathways for RP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0006165 nucleoside diphosphate phosphorylation IEA --
GO:0006183 GTP biosynthetic process IEA --
GO:0006228 UTP biosynthetic process IEA --
GO:0006241 CTP biosynthetic process IEA --
genes like me logo Genes that share ontologies with RP2: view

No data available for Pathways by source for RP2 Gene

Compounds for RP2 Gene

(3) HMDB Compounds for RP2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with RP2: view

Transcripts for RP2 Gene

mRNA/cDNA for RP2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(69) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RP2 Gene

Retinitis pigmentosa 2 (X-linked recessive):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RP2 Gene

No ASD Table

Relevant External Links for RP2 Gene

GeneLoc Exon Structure for
RP2
ECgene alternative splicing isoforms for
RP2

Expression for RP2 Gene

mRNA expression in normal human tissues for RP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RP2 Gene

This gene is overexpressed in Whole Blood (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RP2 Gene

SOURCE GeneReport for Unigene cluster for RP2 Gene Hs.44766

mRNA Expression by UniProt/SwissProt for RP2 Gene

O75695-XRP2_HUMAN
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).
genes like me logo Genes that share expressions with RP2: view

Orthologs for RP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RP2 35
  • 99.38 (n)
  • 99.07 (a)
RP2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RP2 35
  • 92.47 (n)
  • 93.87 (a)
RP2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RP2 35
  • 92.1 (n)
  • 95.14 (a)
RP2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rp2h 35
  • 86.55 (n)
  • 88.76 (a)
Rp2h 16
Rp2h 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RP2 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RP2 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rp2 35
  • 86.57 (n)
  • 88.57 (a)
chicken
(Gallus gallus)
Aves RP2 35
  • 77.71 (n)
  • 80.29 (a)
RP2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RP2 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rp2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rp2 35
  • 71.33 (n)
  • 73.43 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3664 35
zebrafish
(Danio rerio)
Actinopterygii Dr.9089 35
rp2 35
  • 67.96 (n)
  • 71.61 (a)
rp2 36
  • 64 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rpi-2 36
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for RP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RP2 Gene

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

Paralogs for RP2 Gene

No data available for Paralogs for RP2 Gene

Variants for RP2 Gene

Sequence variations from dbSNP and Humsavar for RP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1805146 -- 46,853,970(+) TATGT(C/T)CCTAT synonymous-codon, reference
rs1805147 - 46,860,063(+) TTTTT(C/T)GGGAA reference, missense
rs1805148 - 46,879,728(+) ATGTA(G/T)ACAGC reference, missense
rs2295178 -- 46,836,599(-) GAGAG(A/G)TCTCT upstream-variant-2KB
rs3117285 -- 46,856,155(-) GAAAA(C/T)TGTTT intron-variant

Relevant External Links for RP2 Gene

HapMap Linkage Disequilibrium report
RP2
Human Gene Mutation Database (HGMD)
RP2
Locus Specific Mutation Databases (LSDB)
RP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RP2 Gene

Disorders for RP2 Gene

(1) OMIM Diseases for RP2 Gene (300757)

UniProtKB/Swiss-Prot

XRP2_HUMAN
  • Retinitis pigmentosa 2 (RP2) [MIM:312600]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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. {ECO:0000269 PubMed:10090907, ECO:0000269 PubMed:10520237, ECO:0000269 PubMed:10634633, ECO:0000269 PubMed:10937588, ECO:0000269 PubMed:11462235, ECO:0000269 PubMed:11992260, ECO:0000269 PubMed:12657579, ECO:0000269 PubMed:14564670, ECO:0000269 PubMed:22334370, ECO:0000269 PubMed:9697692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for RP2 Gene

(7) Novoseek inferred disease relationships for RP2 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 93.1 48
night blindness 80.4 1
retinal degeneration 75.1 5
myopia 53.6 4
retinitis 48.5 1

Genatlas disease for RP2 Gene

retinitis pigmentosa 2,X-linked,putatively due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death

Relevant External Links for RP2

Genetic Association Database (GAD)
RP2
Human Genome Epidemiology (HuGE) Navigator
RP2
genes like me logo Genes that share disorders with RP2: view

Publications for RP2 Gene

  1. Positional cloning of the gene for X-linked retinitis pigmentosa 2. (PMID: 9697692) Schwahn U. … Berger W. (Nat. Genet. 1998) 2 3 4 23
  2. RP2 and RPGR mutations and clinical correlations in patients with X- linked retinitis pigmentosa. (PMID: 14564670) Sharon D. … Berson E.L. (Am. J. Hum. Genet. 2003) 3 4 23 48
  3. Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. (PMID: 12417528) Grayson C. … Cheetham M.E. (Hum. Mol. Genet. 2002) 3 4 23
  4. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. (PMID: 12657579) Bader I. … Meitinger T. (Invest. Ophthalmol. Vis. Sci. 2003) 3 4 23
  5. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. (PMID: 11462235) Miano M.G. … Ciccodicola A. (Hum. Mutat. 2001) 3 4 23

Products for RP2 Gene

Sources for RP2 Gene

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