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

RPGR Gene

protein-coding   GIFtS: 56
GCID: GC0XM038128

retinitis pigmentosa GTPase regulator

(Previous names: retinitis pigmentosa 15, cone dystrophy 1 (X-linked) )
(Previous symbols: CRD, RP3, RP15, COD1)
 Explore 35 diseases affiliated with
RPGR via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RPGR    

Aliases
for RPGR gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Retinitis Pigmentosa GTPase Regulator1 2     XLRP32 3
RP31 2 3 5     Cone Dystrophy 1 (X-Linked)1
COD11 2 5     PCDX2
CORDX11 2 5     Orf151
CRD1 2 5     Retinitis Pigmentosa 3 GTPase Regulator2
RP151 2 5     X-Linked Retinitis Pigmentosa GTPase Regulator2
Retinitis Pigmentosa 151 2     

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


Summaries
for RPGR gene

(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 RPGR:
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)

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)


Genomic Views
for RPGR 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences 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 plasmid: RPGR promoter sequence
   Search SABiosciences Chromatin IP Primers for RPGR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: Xp21.1

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:
 38,128,423 bp from pter      End:
 38,186,817 bp from pter
Size:
 58,395 bases      Orientation:
 minus strand

Proteins
for RPGR gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cytoplasm, cytoskeleton, flagellum axoneme (By similarity). Golgi apparatus
Subcellular location: Isoform 6: Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, cilium basal body.
Cytoplasm, cytoskeleton, cilium axoneme
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

Post-translational modifications:

  • Prenylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92834

    • RPGR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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

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    Uscn Proteins for RPGR

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA12140192
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus ISS--
    GO:0005813centrosome IDA15772089


    RPGR for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for RPGR gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RPGR for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000408 Reg_chr_condens
     IPR009091 Reg_csome_cond/b-lactamase_inh

    Graphical View of Domain Structure for InterPro Entry Q92834

    ProtoNet protein and cluster: Q92834

    1 Blocks protein family: IPB000408 Regulator of chromosome condensation

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


    Function
    for RPGR gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    hsa-miR-498 hsa-miR-101* hsa-miR-26a hsa-miR-26b hsa-miR-1305 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmid: RPGR 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI19430481


    RPGR for ontologies           About GeneDecksing


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

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

    RPGR for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RPGR gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPGR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/15 Interacting proteins for RPGR (Q928343 ENSP000003677664) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPGRIP1Q96KN73, ENSP000003828954I2D: score=2 STRING: ENSP00000382895
    SMC1AQ146833, ENSP000003234214I2D: score=2 STRING: ENSP00000323421
    SMC3Q9UQE73, ENSP000003547204I2D: score=2 STRING: ENSP00000354720
    DCTN1Q142033, ENSP000003547914I2D: score=1 STRING: ENSP00000354791
    KIF3AQ9Y4963, ENSP000003680204I2D: score=1 STRING: ENSP00000368020
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

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


    RPGR for ontologies           About GeneDecksing



    Drugs & Compounds
    for RPGR gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RPGR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RPGR
    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about RPGR 

    Transcripts
    for RPGR gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:
    ENST00000476559 ENST00000482855 ENST00000318842 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 QIAGEN miScript miRNA 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 plasmid: RPGR 3' UTR sequence
    Inhib. RNA
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    Primer
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    Additional cDNA 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 

    24/52 AceView cDNA sequences (see all 52):

    NM_000328 AI268515 BM665779 CA313540 BQ439339 N62125 AA582729 BC031624 
    U57629 BI769564 AJ238395 X97668 AI356712 AW055029 CB853555 BQ446671 
    BE379863 BQ447314 BM976523 BP357671 BX644678 BG032027 AA027902 BM694031 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for RPGR gene

    (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

    RPGR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAAAAACAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RPGR expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See RPGR Protein Expression from SPIRE MOPED and PaxDB
    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:     
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    Orthologs
    for RPGR gene

    (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 RPGR gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RPGR1 retinitis pigmentosa GTPase regulator 59.8(n)
    51.93(a)    		   418578  XM_416780.3  XP_416780.3 
    lizard
    (Anolis carolinensis)    		 Reptilia RPGR6
    HERC56
    		 --
    		 77(a)
    33(a)
    		 1 ↔ 1
    possible ortholog
    		 3(132435101-132450935)
    5(45779034-45782126)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.38132 Transcribed sequence with moderate similarity to protein more 76.63(n)    AL849961.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii rpgrb1 retinitis pigmentosa GTPase regulator b 50.69(n)
    39.78(a)    		   557752  XM_680872.5  XP_685964.5 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 12(a)
    		 1 ↔ 1
    		 GroupUn.188(76820-89640)


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

    Paralogs
    for RPGR gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPGR gene
    RCC22  RCC12  

    RPGR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RPGR
    PGOHUM00000242615


    Genomic Variants
    for RPGR gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/925 NCBI SNPs in RPGR are shown (see all 925)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs626420571,2
    		Cpathogenic38163999(-) AGCTGA/GGTCTT 4 S G mis10--------
    rs626386511,2
    		Cpathogenic38169943(-) GAACAC/TCCCAG 4 P S mis10--------
    rs626386441,2
    		Cpathogenic38178162(-) CACTTG/TTCATG 4 C F mis10--------
    rs626386371,2
    		Cpathogenic38180294(-) CCACAA/CCCTGG 4 N T mis10--------
    rs626386341,2
    		Cpathogenic38182174(-) GTTTGG/TCAGTA 4 G V mis10--------
    rs18016871,2
    		C,F,untested38156677(-) AATGAG/AGAGAA 4 /K /R mis14Minor allele frequency- A:0.09NA CSA 4545
    rs1116319881,2
    		C,F,untested38182130(+) GCTGAT/CGGCTG 4 /I /V mis14Minor allele frequency- C:0.04CSA NA 4549
    rs557734661,2
    		C,--38128021(+) AGCCTA/GGCCAA 1 -- ds50010--------
    rs1398834781,2
    		--38128075(+) AGTGTA/GGTGGT 1 -- ds50010--------
    rs1126572851,2
    		C,--38128126(+) AGAATC/TGCTTG 1 -- ds50011Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for RPGR (38128423 - 38186817 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RPGR: --
    Human Gene Mutation Database (HGMD): RPGR

    Locus Specific Mutation Databases (LSDB): RPGR

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPGR
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    Disorders / Diseases
    for RPGR gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    RPGR for disorders           About GeneDecksing

    OMIM gene information: 312610   
    OMIM disorders: 300029  304020  300455  
    UniProtKB/Swiss-Prot: RPGR_HUMAN, Q92834
  • Defects in RPGR are the cause of retinitis pigmentosa type 3 (RP3) [MIM:300029]; also known as X-linked
    • retinitis pigmentosa 3 (XLRP-3) or retinitis pigmentosa type 15 (RP15). A X-linked retinal dystrophy belonging to the
    group of pigmentary retinopathies. RP 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
  • Defects in RPGR are the cause of 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
  • Defects in RPGR are the cause of cone-rod dystrophy X-linked type 1 (CORDX1) [MIM:304020]; also known as cone
    • dystrophy 1 (CO1). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs
    are 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 CORDX1 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
  • Defects in RPGR are a cause of macular degeneration X-linked atrophic (MDXLA) [MIM:300834]. MDXLA is 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

    20/35 diseases for RPGR (see all 35):    About MalaCards
    retinitis pigmentosa    retinitis    retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness    retinitis pigmentosa 3
    retinitis pigmentosa 15    cone-rod dystrophy    macular degeneration, x-linked atrophic    cone dystrophy
    cone-rod dystrophy 1    laurence-moon syndrome    leber congenital amaurosis    senior-loken syndrome
    ciliary dyskinesia    primary ciliary dyskinesia    retinitis pigmentosa-2    night blindness
    macular degeneration    duchenne muscular dystrophy    muscular dystrophy    retinal degeneration

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

    10/16 Novoseek 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

    Publications
    for RPGR gene

    (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 RPGR gene, integrated from 9 sources (see all 177):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (2001)

    External Searches for RPGR gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    Genome Databases showing RPGR gene

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

    Other Databases showing RPGR gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RPGR gene

    (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 RPGR Pharmacogenomics, SNPs, Pathways
    Mutations of the RPGR genehttp://www.retina-international.org/files/sci-news/rpgrmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPGR

    Intellectual Property
    for RPGR gene

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

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