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... See more...

Aliases for RP2 Gene

Aliases for RP2 Gene

  • RP2 Activator Of ARL3 GTPase 2 3 5
  • Retinitis Pigmentosa 2 (X-Linked Recessive) 2 3
  • RP2, ARL3 GTPase Activating Protein 2 3
  • Protein XRP2 3 4
  • 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 (RP2 Activator Of ARL3 GTPase) is a Protein Coding gene. Diseases associated with RP2 include Retinitis Pigmentosa 2 and Retinitis Pigmentosa. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activator activity.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for RP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RP2 Gene

Genomics for RP2 Gene

GeneHancer (GH) Regulatory Elements for RP2 Gene

Promoters and enhancers for RP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ046836 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 516.2 +2.0 2012 5.4 ZBTB40 NRF1 TCF12 POLR2G USF1 SP1 JUND FOS ZNF10 POLR2A RP2 CDK16 ZNF674 CHST7 RF00017-8379
GH0XJ046572 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.8 -261.9 -261886 6 SIN3A POLR2G PHF8 ZFX CTCF EP300 ZIC2 ZNF423 ZBTB26 TRIM28 CHST7 INE1 SLC9A7 RP2 UBA1 ENSG00000224072 RBM10 ZNF674 RF00017-8377 RF00017-8374
GH0XJ046791 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 9.7 -44.1 -44117 3.4 ZNF217 TCF12 JUND FOS ZIC2 REST CUX1 CTBP1 BCL11A ZNF384 RP2 CHST7 SLC9A7 ZNF674 piR-33804-181 RF00017-8374
GH0XJ046625 Enhancer 1.1 FANTOM5 ENCODE 9 -208.7 -208698 4.2 ZBTB40 SP1 TRIM28 RELA MEF2C TRIM22 ATF2 OSR2 BCL11A WT1 CHST7 SLC9A7 RP2 ZNF674 lnc-ZNF674-9 piR-35852 PGAM1P7 lnc-ZNF674-8 RF00017-8374
GH0XJ046864 Enhancer 0.7 Ensembl ENCODE 12.2 +28.2 28189 2.6 E4F1 FOSL2 JUN SPI1 JUND FOS USF2 ZNF664 ZNF629 FOXA1 RP2 RF00017-8379 lnc-JADE3-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RP2

Top Transcription factor binding sites by QIAGEN in the RP2 gene promoter:
  • AML1a
  • Cart-1
  • Chx10
  • Hlf
  • HSF2
  • MEF-2A
  • POU2F1
  • POU2F1a

Genomic Locations for RP2 Gene

Genomic Locations for RP2 Gene
chrX:46,836,912-46,882,358
(GRCh38/hg38)
Size:
45,447 bases
Orientation:
Plus strand
chrX:46,696,347-46,741,793
(GRCh37/hg19)
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

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 Lys38 and Lys260
  • Modification sites at PhosphoSitePlus

Other Protein References for RP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RP2 Gene

Domains & Families for RP2 Gene

Gene Families for RP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RP2 Gene

Blocks:
  • Tubulin binding cofactor C
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RP2 Gene

GenScript: Design optimal peptide antigens:
  • Protein XRP2 (XRP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75695

UniProtKB/Swiss-Prot:

XRP2_HUMAN :
  • Belongs to the TBCC family.
Family:
  • Belongs to the TBCC family.
genes like me logo Genes that share domains with RP2: view

Function for RP2 Gene

Molecular function for RP2 Gene

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.
GENATLAS Biochemistry:
gene ubiquitously expressed,with significant homology to cofactor C,involved in beta-tubulin folding

Gene Ontology (GO) - Molecular Function for RP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 26455799
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 11847227
GO:0005525 GTP binding IEA --
GO:0051082 unfolded protein binding TAS 9697692
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:
  • Rp2 Rp2<tm1.2Asw>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for RP2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 at the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus. {ECO:0000269 PubMed:12417528}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RP2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 4
golgi apparatus 2
cytosol 1
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nuclear bodies (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 12417528
GO:0005794 Golgi apparatus IEA --
GO:0005814 centriole IEA --
GO:0005886 plasma membrane IEA,IDA 12417528
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:0006892 post-Golgi vesicle-mediated transport IMP,IBA 20106869
GO:0007023 NOT post-chaperonin tubulin folding pathway IDA 11847227
GO:0007601 visual perception TAS 9697692
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 :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for RP2

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

No ASD Table

Relevant External Links for RP2 Gene

GeneLoc Exon Structure for
RP2

Expression for RP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for RP2 Gene



Protein tissue co-expression partners for RP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RP2

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).

Evidence on tissue expression from TISSUES for RP2 Gene

  • Eye(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns 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 31 30
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RP2 31 30
  • 92.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RP2 31 30
  • 92.1 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rp2 30
  • 86.57 (n)
mouse
(Mus musculus)
Mammalia Rp2h 31 30
  • 86.55 (n)
OneToOne
Rp2 17
oppossum
(Monodelphis domestica)
Mammalia RP2 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RP2 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves RP2 31 30
  • 77.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RP2 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rp2 30
  • 71.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia rp2-prov 30
zebrafish
(Danio rerio)
Actinopterygii rp2 31 30
  • 67.96 (n)
OneToOne
Dr.9089 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3664 30
worm
(Caenorhabditis elegans)
Secernentea rpi-2 31
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToOne
Species where no ortholog for RP2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RP2: view image

Paralogs for RP2 Gene

No data available for Paralogs for RP2 Gene

Variants for RP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RP2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
635480 Likely Pathogenic: Retinitis pigmentosa 2 46,854,130(+) CT/C FRAMESHIFT_VARIANT
636097 Likely Pathogenic: Retinitis pigmentosa 46,853,725(+) C/G MISSENSE_VARIANT
636098 Likely Pathogenic: Retinitis pigmentosa 46,853,763(+) T/A NONSENSE
636099 Likely Pathogenic: Retinitis pigmentosa 46,837,149(+) C/T MISSENSE_VARIANT
636100 Likely Pathogenic: Retinitis pigmentosa 46,860,043(+) AG/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for RP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RP2 Gene

Variant ID Type Subtype PubMed ID
dgv2285e212 CNV loss 25503493
esv3573924 CNV loss 25503493

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)

Additional Variant Information for RP2 Gene

Human Gene Mutation Database (HGMD)
RP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RP2 Gene

Disorders for RP2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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:10942419, ECO:0000269 PubMed:11462235, ECO:0000269 PubMed:11847227, ECO:0000269 PubMed:11992260, ECO:0000269 PubMed:12657579, ECO:0000269 PubMed:14564670, ECO:0000269 PubMed:16472755, 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

Additional Disease Information for RP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RP2: view

Publications for RP2 Gene

  1. The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. (PMID: 18376416) Veltel S … Wittinghofer A (Nature structural & molecular biology 2008) 2 3 4 23 54
  2. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. (PMID: 14564670) Sharon D … Berson EL (American journal of human genetics 2003) 3 4 23 41 54
  3. Positional cloning of the gene for X-linked retinitis pigmentosa 2. (PMID: 9697692) Schwahn U … Berger W (Nature genetics 1998) 2 3 4 23 54
  4. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. (PMID: 16969763) Pelletier V … Rozet JM (Human mutation 2007) 3 23 41 54
  5. Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. (PMID: 16472755) Kühnel K … Wittinghofer A (Structure (London, England : 1993) 2006) 3 4 23 54

Products for RP2 Gene

Sources for RP2 Gene