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RPGR Gene

protein-coding   GIFtS: 58
GCID: GC0XM038128

Retinitis Pigmentosa GTPase Regulator

(Previous names: retinitis pigmentosa 15, cone dystrophy 1 (X-linked))
(Previous symbols: CRD, RP3, RP15, COD1)
  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)
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Aliases
Retinitis Pigmentosa GTPase Regulator1 2     CORDX12 5
RP31 2 3 5     Cone Dystrophy 1 (X-Linked)1
COD11 2 5     PCDX2
CRD1 2 5     orf152
RP151 2 5     Retinitis Pigmentosa 3 GTPase Regulator2
Retinitis Pigmentosa 151 2     X-Linked Retinitis Pigmentosa GTPase Regulator2
XLRP32 3     

External Ids:    HGNC: 102951   Entrez Gene: 61032   Ensembl: ENSG000001563137   OMIM: 3126105   UniProtKB: Q928343   

Export aliases for RPGR gene to outside databases

Previous GC identifers: GC0XM036233 GC0XM036416 GC0XM036972 GC0XM037159 GC0XM037884 GC0XM038013 GC0XM035873


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RPGR Gene:
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved
guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1.
This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations
in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced
transcript variants that encode different isoforms of this gene have been reported, but the full-length natures
of only some have been determined. (provided by RefSeq, Dec 2008)

GeneCards Summary for RPGR Gene:
RPGR (retinitis pigmentosa GTPase regulator) is a protein-coding gene. Diseases associated with RPGR include retinitis pigmentosa 15, and laurence-moon syndrome. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is SERGEF.

UniProtKB/Swiss-Prot: RPGR_HUMAN, Q92834
Function: Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia
formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor
integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity).
May be involved in microtubule organization and regulation of transport in primary cilia

Gene Wiki entry for RPGR (Retinitis pigmentosa GTPase regulator) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPGR gene promoter:
         HOXA9B   HOXA9   COUP-TF1   AP-1   COUP   HNF-4alpha2   Evi-1   HNF-4alpha1   COUP-TF   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPGR promoter sequence
   Search Chromatin IP Primers for RPGR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPGR


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

Entrez Gene cytogenetic band: Xp21.1   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp11.4

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM038128:  view genomic region     (about GC identifiers)

Start:
38,128,416 bp from pter      End:
38,186,817 bp from pter
Size:
58,402 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RPGR_HUMAN, Q92834 (See protein sequence)
Recommended Name: X-linked retinitis pigmentosa GTPase regulator precursor  
Size: 1020 amino acids; 113387 Da
Subunit: Interacts with PDE6D and RPGRIP1. Isoform 6 interacts with NPM1 (via C-terminus). Interacts with
RPGRIP1L. Isoform 6 interacts with SMC1A and SMC3. Interacts with CEP290 (By similarity). Interacts with DFNB31
(By similarity)
2 PDB 3D structures from and Proteopedia for RPGR:
4JHN (3D)        4JHP (3D)    
Secondary accessions: B1ARN3 E9PE28 O00702 O00737 Q3KN84 Q8N5T6 Q93039 Q9HD29 Q9UMR1
Alternative splicing: 6 isoforms:  Q92834-1   Q92834-2   Q92834-3   Q92834-4   Q92834-5   Q92834-6   (Ref.17 (DAA05713) sequence is in conflict in position: 1144:V->I)

Explore the universe of human proteins at neXtProt for RPGR: NX_Q92834

Explore proteomics data for RPGR at MOPED

Post-translational modifications: 

  • Prenylated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RPGR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000319.1  NP_001030025.1  

    ENSEMBL proteins: 
     ENSP00000322219   ENSP00000419276   ENSP00000418926   ENSP00000417336   ENSP00000367766  
     ENSP00000417574   ENSP00000343671   ENSP00000308783   ENSP00000339531   ENSP00000340208  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000408 Reg_chr_condens
     IPR009091 RCC1/BLIP-II

    Graphical View of Domain Structure for InterPro Entry Q92834

    ProtoNet protein and cluster: Q92834

    1 Blocks protein domain: IPB000408 Regulator of chromosome condensation

    UniProtKB/Swiss-Prot: RPGR_HUMAN, Q92834
    Similarity: Contains 6 RCC1 repeats


    RPGR 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPGR_HUMAN, Q92834
    Function: Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia
    formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor
    integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity).
    May be involved in microtubule organization and regulation of transport in primary cilia

         Genatlas biochemistry entry for RPGR:
    retinitis pigmentosa GTPase regulator,ubiquitously expressed,localized in the Golgi apparatus,potentially involved
    in vesicle transport,exhibiting several alternatively spliced isoforms,including a truncated form,retina specific
    using exon 15a and lacking exons 16 to 19

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI19430481
    GO:0044822poly(A) RNA binding IDA--
         
    RPGR for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RPGR:
     Increased Salmonella enterica   Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rpgr):
     nervous system  vision/eye 

    RPGR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPGR
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPGR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPGR

    miRNA
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    miRTarBase miRNAs that target RPGR:
    hsa-mir-375 (MIRT019979)

    Block miRNA regulation of human, mouse, rat RPGR using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate RPGR:
    hsa-miR-498 hsa-miR-101* hsa-miR-26a hsa-miR-26b hsa-miR-1305 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidRPGR 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPGR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RPGR_HUMAN, Q92834: Cytoplasm, cytoskeleton, flagellum axoneme (By similarity). Golgi apparatus
    RPGR_HUMAN, Q92834: Isoform 6: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
    cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    golgi apparatus5
    nucleus3
    cytosol2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA12140192
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus ISS--
    GO:0005813centrosome IDA15772089
    GO:0005929cilium ----

    RPGR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPGR
    Interactions:

        GeneGlobe Interaction Network for RPGR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for RPGR (Q928341, 3 ENSP000003677664) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDE6DO439241, 3, ENSP000002876004EBI-6558417,EBI-712685 I2D: score=2 STRING: ENSP00000287600
    RPGRIP1Q96KN73, ENSP000003828954I2D: score=2 STRING: ENSP00000382895
    SMC1AQ146833, ENSP000003234214I2D: score=2 STRING: ENSP00000323421
    SMC3Q9UQE73, ENSP000003547204I2D: score=2 STRING: ENSP00000354720
    DCTN1Q142033, ENSP000003547914I2D: score=1 STRING: ENSP00000354791
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport TAS9990021
    GO:0007601visual perception IMP9399904
    GO:0042073intraciliary transport ISS--
    GO:0042384cilium assembly IMP--
    GO:0042462eye photoreceptor cell development IEA--

    RPGR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for RPGR

    3 Novoseek inferred chemical compound relationships for RPGR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ornithine 35.1 3 11581184 (1), 10502831 (1)
    cgmp 0 3 9990021 (2)
    glutamate 0 1 11875055 (1)



    RPGR for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RPGR gene (3 alternative transcripts): 
    NM_000328.2  NM_001034853.1  NM_001023582.1  

    Unigene Cluster for RPGR:

    Retinitis pigmentosa GTPase regulator
    Hs.61438  [show with all ESTs]
    Unigene Representative Sequence: NM_001034853
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318842 ENST00000476559 ENST00000482855 ENST00000474584 ENST00000494707
    ENST00000378505(uc004ded.1) ENST00000494841(uc004dee.1) ENST00000464437
    ENST00000470183 ENST00000339363(uc004deb.3 uc004dea.3) ENST00000309513
    ENST00000342811 ENST00000338898(uc004dec.3)
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    6 qRT-PCR Assays for microRNAs that regulate RPGR:
    hsa-miR-498 hsa-miR-101* hsa-miR-26a hsa-miR-26b hsa-miR-1305 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidRPGR 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): RPGR (NM_001034853)
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      QuantiFast Probe-based Assays in human, mouse, rat RPGR

    Additional mRNA sequence: 

    AK223491.1 AK291832.1 AY927527.1 U57629.1 X97668.1 

    9 DOTS entries:

    DT.95158755  DT.453815  DT.97805525  DT.100020297  DT.92420457  DT.97839612  DT.99955337  DT.75153386 
    DT.86854050 

    Selected AceView cDNA sequences (see all 52):

    BM665779 BC031624 N62125 BI769564 NM_000328 BQ439339 X97668 CA313540 
    AI268515 AJ238395 AA582729 AI356712 U57629 AW439197 AW055029 BP357671 
    BM694031 BG032027 BQ446671 BX282502 CB853555 BX644678 BM976523 BQ447314 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPGR (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19
    SP1:                                                                                                        -                           
    SP2:                                                                                                        -     -                     
    SP3:                                                                          -     -           -     -     -     -                     
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for RPGR

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RPGR expression in normal human tissues (normalized intensities)      RPGR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAAACAA
    RPGR Expression
    About this image


    RPGR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    RPGR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPGR Protein Expression

    Genevestigator expression for RPGR

    SOURCE GeneReport for Unigene cluster: Hs.61438

    UniProtKB/Swiss-Prot: RPGR_HUMAN, Q92834
    Tissue specificity: Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal
    pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod
    photoreceptors and cone outer segments

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPGR

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RPGR gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpgr1 , 5 retinitis pigmentosa GTPase regulator1, 5 75.75(n)1
    63.62(a)1
      X (4.62 cM)5
    198931  NM_001177950.11  NP_001171421.11 
     100736215 
    chicken
    (Gallus gallus)
    Aves RPGR6
    retinitis pigmentosa GTPase regulator
    48(a)
    1 ↔ 1
    1(112266516-112364076)
    lizard
    (Anolis carolinensis)
    Reptilia RPGR6
    retinitis pigmentosa GTPase regulator
    76(a)
    1 ↔ 1
    3(132420383-132454936)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.38132 Transcribed sequence with moderate similarity to protein refNP_000319.1 (H.sapiens) retinitis pigmentosa GTPase regulator; retinitis pigmentosa 3 GTPase regulator [Homo sapiens] less 76.63(n)    AL849961.2 
    zebrafish
    (Danio rerio)
    Actinopterygii rpgrb1 retinitis pigmentosa GTPase regulator b 60.49(n)
    57.06(a)
      557752  XM_005169349.1  XP_005169406.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPGR gene
    SERGEF2  RCC22  RCBTB22  IBTK2  WBSCR162  RCC12  RCBTB12  

    RPGR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RPGR
    PGOHUM00000242615


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RPGR (see all 1120)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626405901,2,,4
    C,FRetinitis pigmentosa 3 (RP3)4 untested138080430(-) TTCTTA/C/GTGGAG 4 Y C mis11NA 4220
    VAR_0180674
    Retinitis pigmentosa 3 (RP3)4--see VAR_0180672 G R mis40--------
    VAR_0068524
    Retinitis pigmentosa 3 (RP3)4--see VAR_0068522 G S mis40--------
    VAR_0085014
    Retinitis pigmentosa 3 (RP3)4--see VAR_0085012 G V mis40--------
    VAR_0068514
    Retinitis pigmentosa 3 (RP3)4--see VAR_0068512 P S mis40--------
    VAR_0180574
    Retinitis pigmentosa 3 (RP3)4--see VAR_0180572 G E mis40--------
    VAR_0261274
    Retinitis pigmentosa 3 (RP3)4--see VAR_0261272 G R mis40--------
    VAR_0180634
    Retinitis pigmentosa 3 (RP3)4--see VAR_0180632 G E mis40--------
    VAR_0136254
    Retinitis pigmentosa 3 (RP3)4--see VAR_0136252 T N mis40--------
    VAR_0180594
    Retinitis pigmentosa 3 (RP3)4--see VAR_0180592 R G mis40--------

    HapMap Linkage Disequilibrium report for RPGR (38128416 - 38186817 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RPGR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516365CNV Gain19592680
    dgv510n21CNV Gain19592680
    nsv522957CNV Gain19592680

    Human Gene Mutation Database (HGMD): RPGR
    Locus Specific Mutation Databases (LSDB): RPGR

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    (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.)
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    OMIM gene information: 312610   
    OMIM disorders: 300029  300455  300834  304020  
    UniProtKB/Swiss-Prot: RPGR_HUMAN, Q92834
  • Retinitis pigmentosa 3 (RP3) [MIM:300029]: A X-linked 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. In RP3, affected
    males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from
    completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal
    degeneration which is distinguished from other types by the absence of visual defects in the presence of a
    brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like
    retinal reflex. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI) [MIM:300455]: A
    disease characterized by the association primary ciliary dyskinesia features with retinitis pigmentosa. Some
    patients also manifest deafness. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Cone-rod dystrophy, X-linked 1 (CORDX1) [MIM:304020]: An inherited retinal dystrophy characterized by
    retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of
    cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the
    central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in
    retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be
    variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom
    are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral
    visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment
    epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at
    onset and severity of symptoms. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Macular degeneration, X-linked, atrophic (MDXLA) [MIM:300834]: An ocular disorder characterized by
    macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some
    patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and
    choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males
    despite advanced macular degeneration. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for RPGR (see all 42):    About MalaCards
    retinitis pigmentosa 15    laurence-moon syndrome    cone-rod dystrophy 1    rpgr-related retinitis pigmentosa
    retinitis pigmentosa 3    cone-rod dystrophy x-linked 1    macular degeneration, x-linked atrophic    retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness
    retinitis pigmentosa 2    ciliary dyskinesia, primary, 13    alstrom syndrome    orofaciodigital syndrome
    retinitis pigmentosa    n syndrome    peripheral retinal degeneration    ornithine carbamoyltransferase deficiency
    achromatopsia 2    retinitis    senior-loken syndrome    cone dystrophy

    11 diseases from the University of Copenhagen DISEASES database for RPGR:
    Retinitis pigmentosa     cone-rod dystrophy     Leber congenital amaurosis     Primary ciliary dyskinesia
    Night blindness     Blindness     Usher syndrome     Myopia
    Fundus dystrophy     Nephronophthisis     Peripheral retinal degeneration

    RPGR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for RPGR gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 95.9 278 9366675 (4), 10958648 (3), 20021257 (3), 9222238 (3) (see all 99)
    retinitis pigmentosa 3 93.3 9 17653054 (1), 17646274 (1), 11702207 (1), 9990021 (1)
    cone-rod dystrophy 87.8 10 15734019 (2), 11857109 (2), 9443860 (1), 11968081 (1) (see all 5)
    retinal degeneration 82.3 12 10932196 (1), 11968081 (1), 11702207 (1), 16632484 (1) (see all 10)
    lebers congenital amaurosis 80.5 2 12874105 (1), 20090203 (1)
    progressive cone dystrophy 78.9 2 8123616 (1)
    night blindness 70.9 1 1357178 (1)
    retinopathy 65.8 21 18332319 (2), 16669610 (2), 12140192 (2), 17653054 (1) (see all 8)
    blindness 57.8 9 10958648 (1), 12160730 (1), 12140192 (1), 17325176 (1) (see all 5)
    myopia 49.9 6 20021257 (1), 1357178 (1), 11559860 (1), 11453854 (1) (see all 6)

    Genetic Association Database (GAD): RPGR
    Human Genome Epidemiology (HuGE) Navigator: RPGR (10 documents)

    Export disorders for RPGR 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)
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    PubMed articles for RPGR gene, integrated from 10 sources (see all 183):
    (articles sorted by number of sources associating them with RPGR)
        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. (Am. J. Hum. Genet. 2003)
    2. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). (PubMed id 8673101)1, 2, 3, 9 Meindl A.... Wright A.F. (Nat. Genet. 1996)
    3. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. (PubMed id 8817343)1, 2, 3 Roepman R.... Berger W. (Hum. Mol. Genet. 1996)
    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. (PubMed id 12657579)1, 2, 9 Bader I....Meitinger T. (Invest. Ophthalmol. Vis. Sci. 2003)
    5. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. (PubMed id 10958648)1, 2, 9 Roepman R.... Ferreira P.A. (Hum. Mol. Genet. 2000)
    6. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. (PubMed id 10970770)1, 2, 9 Mears A.J....Swaroop A. (Am. J. Hum. Genet. 2000)
    7. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. (PubMed id 9990021)1, 2, 9 Linari M.... Becker J. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    8. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. (PubMed id 12140192)1, 2, 9 Mavlyutov T.A.... Ferreira P.A. (Hum. Mol. Genet. 2002)
    9. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. (PubMed id 11857109)1, 2, 9 Demirci F.Y.K.... Gorin M.B. (Am. J. Hum. Genet. 2002)
    10. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. (PubMed id 11702207)1, 2, 9 Kirschner R.... Berger W. (Hum. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6103 HGNC: 10295 AceView: RPGR Ensembl:ENSG00000156313 euGenes: HUgn6103
    ECgene: RPGR H-InvDB: RPGR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RPGR Pharmacogenomics, SNPs, Pathways
    Mutations of the RPGR genehttp://www.retina-international.org/files/sci-news/rpgrmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RPGR[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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