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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RP2 Gene

protein-coding   GIFtS: 57
GCID: GC0XP046696

Retinitis Pigmentosa 2 (X-Linked Recessive)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Retinitis Pigmentosa 2 (X-Linked Recessive)1 2     TBCCD22
DELXp11.32     XRP22
NM23-H102     Protein XRP22
NME102     

External Ids:    HGNC: 102741   Entrez Gene: 61022   Ensembl: ENSG000001022187   OMIM: 3007575   UniProtKB: O756953   

Export aliases for RP2 gene to outside databases

Previous GC identifers: GC0XP045499 GC0XP044957 GC0XP045742 GC0XP046452 GC0XP046581 GC0XP044407


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 retinitis pigmentosa 2, x linked. GO annotations related to this gene include GTP binding and GTPase activator activity. An important paralog of this gene is TBCC.

UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695
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 Wiki entry for RP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RP2 gene promoter:
         MEF-2A   AML1a   POU2F1   POU2F1a   HSF2   Chx10   Cart-1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.3   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.3

RP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RP2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP046696:  view genomic region     (about GC identifiers)

Start:
46,696,347 bp from pter      End:
46,741,793 bp from pter
Size:
45,447 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695 (See protein sequence)
Recommended Name: Protein XRP2  
Size: 350 amino acids; 39641 Da
Subunit: 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
Subcellular location: 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
3 PDB 3D structures from and Proteopedia for RP2:
2BX6 (3D)        3BH6 (3D)        3BH7 (3D)    
Secondary accessions: Q86XJ7 Q9NU67

Explore the universe of human proteins at neXtProt for RP2: NX_O75695

Explore proteomics data for RP2 at MOPED 

Post-translational modifications:

  • UniProtKB: Myristoylated on Gly-2; which may be required for membrane targeting (Probable)
  • UniProtKB: Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets
    the protein to internal membranes
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75695

  • RP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RP2 Protein Expression
    REFSEQ proteins: NP_008846.2  
    ENSEMBL proteins: 
     ENSP00000218340  

    Human Recombinant Protein Products for RP2: 
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    GenScript Custom Purified and Recombinant Proteins Services for RP2
    Novus Biologicals RP2 Proteins
    Novus Biologicals RP2 Lysates
    Sino Biological Recombinant Protein for RP2
    Sino Biological Cell Lysate for RP2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RP2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12417528
    GO:0005886plasma membrane IDA12417528
    GO:0005929cilium IEA--

    RP2 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for RP2 

    Assay Products for RP2: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RP2 
    Cloud-Clone Corp. CLIAs for RP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR016098 CAP/MinC_C
     IPR001564 Nucleoside_diP_kinase
     IPR006599 CARP_motif
     IPR017332 Protein_XRP2
     IPR017901 C-CAP_CF_C-like

    Graphical View of Domain Structure for InterPro Entry O75695

    ProtoNet protein and cluster: O75695

    1 Blocks protein domain: IPB012945 Tubulin binding cofactor C

    UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695
    Similarity: Belongs to the TBCC family
    Similarity: Contains 1 C-CAP/cofactor C-like domain


    RP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XRP2_HUMAN, O75695
    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 entry for RP2:
    gene ubiquitously expressed,with significant homology to cofactor C,involved in beta-tubulin folding

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0004550nucleoside diphosphate kinase activity IEA--
    GO:0005096GTPase activator activity IDA11847227
    GO:0005515protein binding IPI11847227
    GO:0005524ATP binding IEA--
         
    RP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RP2:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RP2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RP2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP2
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate RP2 (see all 34):
    hsa-miR-218-1* hsa-miR-4305 hsa-miR-9 hsa-miR-556-3p hsa-miR-181b hsa-miR-3163 hsa-miR-4324 hsa-miR-181a
    SwitchGear 3'UTR luciferase reporter plasmidRP2 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RP2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for RP2 (O756952, 3 ENSP000002183404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL3P364052, 3, ENSP000002607464MINT-6602347 MINT-6602360 MINT-6602369 I2D: score=3 STRING: ENSP00000260746
    UNC119Q134322, ENSP000003370404MINT-6602347 MINT-6602360 MINT-6602369 STRING: ENSP00000337040
    APLP2Q064813I2D: score=1 
    YWHABP319463I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0006165nucleoside diphosphate phosphorylation ----
    GO:0006183GTP biosynthetic process IEA--
    GO:0006228UTP biosynthetic process IEA--
    GO:0006241CTP biosynthetic process IEA--

    RP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RP2 (XRP2)

    3 HMDB Compounds for RP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about RP2 / XRP2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RP2 gene: 
    NM_006915.2  

    Unigene Cluster for RP2:

    Retinitis pigmentosa 2 (X-linked recessive)
    Hs.44766  [show with all ESTs]
    Unigene Representative Sequence: NM_006915
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000218340(uc004dgw.4)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP2
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate RP2 (see all 34):
    hsa-miR-218-1* hsa-miR-4305 hsa-miR-9 hsa-miR-556-3p hsa-miR-181b hsa-miR-3163 hsa-miR-4324 hsa-miR-181a
    SwitchGear 3'UTR luciferase reporter plasmidRP2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RP2
    Clone
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    OriGene clones in human, mouse for RP2 (see all 8)
    OriGene ORF clones in mouse, rat for RP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RP2 (NM_001321)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RP2
    Sirion Biotech Customized lentivirus for stable overexpression of RP2 
                         Customized lentivirus expression plasmids for stable overexpression of RP2 
    Primer
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    OriGene qPCR primer pairs and template standards for RP2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RP2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RP2

    Additional mRNA sequence: 

    AJ007590.1 AK312555.1 AL049366.1 BC027851.1 BC043348.2 BC053530.1 

    2 DOTS entries:

    DT.108706  DT.91664728 

    24/69 AceView cDNA sequences (see all 69):

    BQ019722 CA748579 AI610511 BU616754 BC027851 AL543198 CA307411 BI020123 
    AL049366 BC043348 BU181281 BU619730 AA885767 AW674269 BC053530 BX106200 
    AI824459 BI771880 NM_006915 CF995062 AI433058 AV700866 BI461048 AL121304 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RP2 expression in normal human tissues (normalized intensities)      RP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RP2 Expression
    About this image


    RP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
             bone marrow cd34+   
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Lung (Respiratory System)

    See RP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RP2

    SOURCE GeneReport for Unigene cluster: Hs.44766

    UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695
    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)

        SABiosciences Custom PCR Arrays for RP2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RP2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rp2h1 , 5 retinitis pigmentosa 2 homolog (human)1, 5 86.55(n)1
    88.76(a)1
      X (15.83 cM)5
    198891  NM_133669.41  NP_598430.11 
     203644815 
    chicken
    (Gallus gallus)
    Aves RP21 retinitis pigmentosa 2 (X-linked recessive) 77.52(n)
    80.29(a)
      418675  NM_001008680.1  NP_001008680.1 
    lizard
    (Anolis carolinensis)
    Reptilia RP26
    retinitis pigmentosa 2 (X-linked recessive)
    72(a)
    1 ↔ 1
    3(112022548-112038823)
    African clawed frog
    (Xenopus laevis)
    Amphibia rp2-prov2 retinitis pigmentosa 2 (X-linked recessive) 76.46(n)    BC041222.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.90892 Danio rerio mRNA similar to retinitis pigmentosa 2 more 74.92(n)    BC046879.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rpi-26
    Protein RPI-2
    27(a)
    1 ↔ 1
    IV(1711279-1714179)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RP2 gene
    TBCC2  

    RP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/584 SNPs in RP2 are shown (see all 584)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0180704
    Retinitis pigmentosa 2 (RP2)4--see VAR_0180702 C Y mis40--------
    VAR_0180694
    Retinitis pigmentosa 2 (RP2)4--see VAR_0180692 C Y mis40--------
    VAR_0084984
    Retinitis pigmentosa 2 (RP2)4--see VAR_0084982 C G mis40--------
    VAR_0180754
    Retinitis pigmentosa 2 (RP2)4--see VAR_0180752 L P mis40--------
    VAR_0683534
    Retinitis pigmentosa 2 (RP2)4--see VAR_0683532 C Y mis40--------
    VAR_0085004
    Retinitis pigmentosa 2 (RP2)4--see VAR_0085002 L R mis40--------
    VAR_0180744
    Retinitis pigmentosa 2 (RP2)4--see VAR_0180742 E G mis40--------
    VAR_0260584
    Retinitis pigmentosa 2 (RP2)4--see VAR_0260582 R C mis40--------
    VAR_0084994
    Retinitis pigmentosa 2 (RP2)4--see VAR_0084992 R H mis40--------
    rs289336871,2,4
    CRetinitis pigmentosa 2 (RP2)4 pathogenic146632196(+) ATTTCA/G/TTGTGC 3 H R L mis10--------

    HapMap Linkage Disequilibrium report for RP2 (46696347 - 46741793 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RP2: --

    Human Gene Mutation Database (HGMD): RP2

    Locus Specific Mutation Databases (LSDB): RP2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RP2
    DNA2.0 Custom Variant and Variant Library Synthesis for RP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300757   
    OMIM disorders: 312600  
    UniProtKB/Swiss-Prot: XRP2_HUMAN, O75695
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 17 diseases for RP2:    About MalaCards
    retinitis pigmentosa-2    retinitis pigmentosa 2, x linked    rp2-related retinitis pigmentosa    aland island eye disease
    retinal degeneration    retinitis pigmentosa    retinitis    eye disease
    leber hereditary optic neuropathy    retinal disease    night blindness    cone-rod dystrophy
    rhyns syndrome    myopia    blindness    neuropathy
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for RP2:
    Aland Island eye disease     Retinitis pigmentosa

    RP2 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for RP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 93.1 49 10634633 (4), 20021257 (3), 11020419 (2), 16472755 (2) (see all 32)
    night blindness 80.4 1 1357178 (1)
    retinal degeneration 75.1 5 10634633 (1), 9697692 (1), 10862093 (1), 11371510 (1) (see all 5)
    myopia 53.6 4 20021257 (1), 1357178 (1), 17724181 (1), 17093403 (1)
    retinitis 48.5 1 10401005 (1)
    retinopathy 46.6 2 14566651 (1), 15031171 (1)
    atrophy 0 1 15031171 (1)

    Genatlas disease: RP2
    retinitis pigmentosa 2,X-linked,putatively due to the accumulation of incorrectly-folded photoreceptor or
    neuron-specific tubulin isoforms followed by progressive cell death

    Genetic Association Database (GAD): RP2
    Human Genome Epidemiology (HuGE) Navigator: RP2 (9 documents)

    Export disorders for RP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RP2 gene, integrated from 9 sources (see all 83):
    (articles sorted by number of sources associating them with RP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RP2 and RPGR mutations and clinical correlations in patients with X- linked retinitis pigmentosa. (PubMed id 14564670)1, 2, 4, 9 Sharon D....Berson E.L. (2003)
    2. Positional cloning of the gene for X-linked retinitis pigmentosa 2. (PubMed id 9697692)1, 2, 3, 9 Schwahn U.... Berger W. (1998)
    3. Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. (PubMed id 12417528)1, 2, 9 Grayson C....Cheetham M.E. (2002)
    4. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. (PubMed id 11462235)1, 2, 9 Miano M.G.... Ciccodicola A. (2001)
    5. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. (PubMed id 10937588)1, 2, 9 Sharon D....Dryja T.P. (2000)
    6. Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). (PubMed id 10520237)1, 2, 9 Rosenberg T.... Berger W. (1999)
    7. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. (PubMed id 16969763)1, 4, 9 Pelletier V....Rozet J.M. (2007)
    8. Novel frameshift mutations in the RP2 gene and polymorphic variants. (PubMed id 10862093)1, 2, 9 Thiselton D.L.... Hardcastle A.J. (2000)
    9. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X- linked retinitis pigmentosa. (PubMed id 10634633)1, 2, 9 Wada Y.... Tamai M. (2000)
    10. Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. (PubMed id 10942419)1, 2, 9 Chapple J.P.... Cheetham M.E. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6102 HGNC: 10274 AceView: RP2 Ensembl:ENSG00000102218 euGenes: HUgn6102
    ECgene: RP2 H-InvDB: RP2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RP2 Pharmacogenomics, SNPs, Pathways
    Mutations of the RP2 genehttp://www.retina-international.org/files/sci-news/rp2mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RP2 gene:
    Search GeneIP for patents involving RP2

    GeneCards and IP:
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