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Aliases for RP2 Gene

Aliases for RP2 Gene

  • Retinitis Pigmentosa 2 (X-Linked Recessive) 2 3 5
  • DELXp11.3 3
  • NM23-H10 3
  • TBCCD2 3
  • NME10 3
  • XRP2 3

External Ids for RP2 Gene

Previous GeneCards Identifiers for RP2 Gene

  • GC0XP045499
  • GC0XP044957
  • GC0XP045742
  • GC0XP046452
  • GC0XP046581
  • GC0XP046696
  • GC0XP044407

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. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include GTP binding and GTPase activator activity. An important paralog of this gene is TBCC.

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

Regulatory Elements for RP2 Gene

Enhancers for RP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RP2 on UCSC Golden Path with GeneCards custom track

Promoters for RP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RP2 Gene

Chromosome:
X
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

Genes around RP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Ubiquitination at Lys 38 and Lys 260
  • Modification sites at PhosphoSitePlus

Other Protein References for RP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for RP2

No data available for DME Specific Peptides for RP2 Gene

Domains & Families 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 :
  • Contains 1 C-CAP/cofactor C-like domain.
  • Belongs to the TBCC family.
Domain:
  • Contains 1 C-CAP/cofactor C-like domain.
Family:
  • Belongs to the TBCC family.
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 --
genes like me logo Genes that share ontologies with RP2: view
genes like me logo Genes that share phenotypes with RP2: view

Human Phenotype Ontology for RP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RP2 Gene

MGI Knock Outs for RP2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytoskeleton 5
extracellular 5
plasma membrane 5
cytosol 2
golgi apparatus 2
nucleus 2
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:0036064 ciliary basal body IEA,IDA 20106869
genes like me logo Genes that share ontologies with RP2: view

Pathways & Interactions for RP2 Gene

genes like me logo Genes that share pathways with RP2: view

Gene Ontology (GO) - Biological Process for RP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0006457 protein folding TAS 9697692
GO:0007023 NOT post-chaperonin tubulin folding pathway IDA 11847227
genes like me logo Genes that share ontologies with RP2: view

No data available for SIGNOR curated interactions for RP2 Gene

Drugs & Compounds for RP2 Gene

(3) Drugs for RP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
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 (x7.2).

Protein differential expression in normal tissues from HIPED for RP2 Gene

This gene is overexpressed in Monocytes (11.1), Bone (7.4), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with RP2: view

Protein tissue co-expression partners for RP2 Gene

- Elite partner

Primer Products

Orthologs for RP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RP2 Gene

Organism Taxonomy Gene Similarity Type Details
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)
Rp2 16
Rp2h 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RP2 35
  • 99.38 (n)
  • 99.07 (a)
RP2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rp2 35
  • 86.57 (n)
  • 88.57 (a)
oppossum
(Monodelphis domestica)
Mammalia RP2 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RP2 36
  • 70 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia rp2 35
  • 71.33 (n)
  • 73.43 (a)
African clawed frog
(Xenopus laevis)
Amphibia rp2-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.9089 35
rp2 35
  • 67.96 (n)
  • 71.61 (a)
rp2 36
  • 64 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3664 35
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

Paralogs for RP2 Gene

genes like me logo Genes that share paralogs with RP2: view

Variants for RP2 Gene

Sequence variations from dbSNP and Humsavar for RP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_008498 Retinitis pigmentosa 2 (RP2)
VAR_008499 Retinitis pigmentosa 2 (RP2)
VAR_008500 Retinitis pigmentosa 2 (RP2)
rs1805147 - 46,860,063(+) TTTTT(C/T)GGGAA reference, missense
rs1805148 - 46,879,728(+) ATGTA(G/T)ACAGC reference, missense

Variation tolerance for RP2 Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RP2 Gene

Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

(8) MalaCards diseases for RP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RP2 in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RP2
genes like me logo Genes that share disorders with RP2: view

Publications for RP2 Gene

  1. 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 67
  2. Positional cloning of the gene for X-linked retinitis pigmentosa 2. (PMID: 9697692) Schwahn U. … Berger W. (Nat. Genet. 1998) 2 3 23
  3. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. (PMID: 20021257) Ji Y. … Zhang Q. (Curr. Eye Res. 2010) 3 23
  4. Nme protein family evolutionary history, a vertebrate perspective. (PMID: 19852809) Desvignes T. … Bobe J. (BMC Evol. Biol. 2009) 2 3
  5. The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. (PMID: 18376416) Veltel S. … Wittinghofer A. (Nat. Struct. Mol. Biol. 2008) 3 23

Products for RP2 Gene

Sources for RP2 Gene

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