RPGR Gene (Protein Coding)

Retinitis Pigmentosa GTPase Regulator

GC0XM038269
GIFtS:
40
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... See more...

Aliases for RPGR Gene

Aliases for RPGR Gene

  • Retinitis Pigmentosa GTPase Regulator 2 3 5
  • X-Linked Retinitis Pigmentosa GTPase Regulator 3 4
  • Retinitis Pigmentosa 15 2 3
  • CORDX1 2 3
  • XLRP3 3 4
  • RP3 3 4
  • Retinitis Pigmentosa 3 GTPase Regulator 3
  • Cone Dystrophy 1 (X-Linked) 2
  • Orf15 3
  • COD1 3
  • PCDX 3
  • RP15 3
  • RPGR 5
  • CRD 3

External Ids for RPGR Gene

Previous HGNC Symbols for RPGR Gene

  • CRD
  • RP3
  • RP15
  • COD1

Previous GeneCards Identifiers for RPGR Gene

  • GC0XM036233
  • GC0XM036416
  • GC0XM036972
  • GC0XM037159
  • GC0XM037884
  • GC0XM038013
  • GC0XM038128
  • GC0XM035873

Summaries for RPGR Gene

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, X-Linked, And Sinorespiratory Infections, With Or Without Deafness and Retinitis Pigmentosa 3. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is HERC1.

UniProtKB/Swiss-Prot Summary for RPGR Gene

  • 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 Gene

Additional gene information for RPGR Gene

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

Genomics for RPGR Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RPGR Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ038325 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 604.9 +0.3 274 3.3 SP1 CREB1 CTCF TEAD4 PRDM10 ZNF629 RFX1 FOXA1 ZNF143 ZIC2 RPGR lnc-SRPX-2 SRPX ENSG00000250349
GH0XJ038271 Enhancer 1 FANTOM5 Ensembl 17.6 +56.2 56243 1 BACH1 RELA IKZF2 TRIM22 ARID3A DPF2 RELB RUNX3 ZNF316 BCLAF1 RF00017-8299 RPGR ENSG00000226679 SRPX CYBB RF00017-8298 ENSG00000250349
GH0XJ038350 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 13 -27.5 -27522 8.7 ATF7 SP1 ATF3 YY1 ATF2 JUND HNF4A RXRA ZNF664 MAX OTC RPGR SRPX piR-57460-711 TSPAN7
GH0XJ038305 Enhancer 0.7 FANTOM5 Ensembl 17.5 +21.5 21543 2.8 SP1 HNF4A JUN POLR2A ZNF652 NR3C1 lnc-SRPX-1 RPGR ENSG00000252050 SRPX ENSG00000250349
GH0XJ038231 Enhancer 0.7 Ensembl ENCODE 11 +94.2 94236 3.3 CEBPB NFE2 MAFG ATF4 JUND HNF4A L3MBTL2 RPGR SRPX RF00017-8298 RF00017-8299 ENSG00000250349
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPGR on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the RPGR gene promoter:
  • AP-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • Evi-1
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA9
  • HOXA9B
  • Pax-4a

Genomic Locations for RPGR Gene

Genomic Locations for RPGR Gene
chrX:38,269,163-38,327,544
(GRCh38/hg38)
Size:
58,382 bases
Orientation:
Minus strand
chrX:38,128,416-38,186,817
(GRCh37/hg19)
Size:
58,402 bases
Orientation:
Minus strand

Genomic View for RPGR Gene

Genes around RPGR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RPGR Gene

Proteins for RPGR Gene

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  • Protein details for RPGR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92834-RPGR_HUMAN
    Recommended name:
    X-linked retinitis pigmentosa GTPase regulator
    Protein Accession:
    Q92834
    Secondary Accessions:
    • B1ARN3
    • E9PE28
    • O00702
    • O00737
    • Q3KN84
    • Q8N5T6
    • Q93039
    • Q9HD29
    • Q9UMR1

    Protein attributes for RPGR Gene

    Size:
    1020 amino acids
    Molecular mass:
    113387 Da
    Quaternary structure:
    • Interacts with SPATA7 (By similarity). Interacts with CEP290 (By similarity). Interacts with WHRN (By similarity). Interacts with PDE6D (PubMed:9990021, PubMed:23559067, PubMed:24981858). Interacts with RPGRIP1 (PubMed:10958648, PubMed:24981858). Interacts with RPGRIP1L (PubMed:19430481, PubMed:24981858). PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (PubMed:24981858). Isoform 6 interacts with NPM1 (via C-terminus) (PubMed:15772089). Isoform 6 interacts with SMC1A and SMC3 (PubMed:16043481).

    Three dimensional structures from OCA and Proteopedia for RPGR Gene

    Alternative splice isoforms for RPGR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPGR Gene

Protein Expression for RPGR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RPGR Gene

Other Protein References for RPGR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPGR Gene

Domains & Families for RPGR Gene

Gene Families for RPGR Gene

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

Protein Domains for RPGR Gene

InterPro:
Blocks:
  • Regulator of chromosome condensation, RCC1
ProtoNet:

Suggested Antigen Peptide Sequences for RPGR Gene

GenScript: Design optimal peptide antigens:
  • Retinitis pigmentosa GTPase regulator (Q9HD28_HUMAN)
  • X-linked retinitis pigmentosa GTPase regulator (RPGR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92834

UniProtKB/Swiss-Prot:

RPGR_HUMAN :
  • The RCC1 repeat region mediates interactions with RPGRIP1.
Domain:
  • The RCC1 repeat region mediates interactions with RPGRIP1.
genes like me logo Genes that share domains with RPGR: view

Function for RPGR Gene

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Molecular function for RPGR Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for RPGR Gene

Gene Ontology (GO) - Molecular Function for RPGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 9990021
genes like me logo Genes that share ontologies with RPGR: view
genes like me logo Genes that share phenotypes with RPGR: view

Human Phenotype Ontology for RPGR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RPGR Gene

MGI Knock Outs for RPGR:

Animal Model Products

CRISPR Products

miRNA for RPGR Gene

miRTarBase miRNAs that target RPGR

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPGR

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RPGR Gene

Localization for RPGR Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPGR Gene

Cytoplasm, cytoskeleton, flagellum axoneme. Golgi apparatus. Cell projection, cilium. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with WHRN in the photoreceptor connecting cilium (By similarity). Colocalizes with CEP290 in the photoreceptor connecting cilium (By similarity). Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (By similarity). {ECO:0000250 UniProtKB:Q9R0X5}.
[Isoform 6]: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IDA 12140192
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus ISS --
GO:0005813 centrosome IDA 15772089
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with RPGR: view

Pathways & Interactions for RPGR Gene

PathCards logo

SuperPathways for RPGR Gene

No Data Available

SIGNOR curated interactions for RPGR Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RPGR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport TAS 9990021
GO:0007601 visual perception IMP 9399904
GO:0030030 cell projection organization IEA --
GO:0042073 intraciliary transport ISS --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RPGR: view

No data available for Pathways by source for RPGR Gene

Drugs & Compounds for RPGR Gene

Products:

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(2) Drugs for RPGR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RPGR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RPGR: view

Transcripts for RPGR Gene

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mRNA/cDNA for RPGR Gene

10 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPGR

Clone Products

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

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:
SP6: - - - -

Relevant External Links for RPGR Gene

GeneLoc Exon Structure for
RPGR

Expression for RPGR Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPGR Gene

mRNA expression in normal human tissues for RPGR Gene
mRNA expression by BioGPS for RPGR GenemRNA expression by GTEx for RPGR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPGR Gene

This gene is overexpressed in Breast (21.8), Cerebrospinal fluid (21.2), and Monocytes (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPGR Gene



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

SOURCE GeneReport for Unigene cluster for RPGR Gene:

Hs.61438

mRNA Expression by UniProt/SwissProt for RPGR Gene:

Q92834-RPGR_HUMAN
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.

Evidence on tissue expression from TISSUES for RPGR Gene

  • Eye(4.6)
  • Kidney(2.4)
  • Nervous system(2.3)
  • Lung(2.3)
  • Skin(2.2)
  • Liver(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • lacrimal apparatus
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • pituitary gland
  • sinus
  • skull
Thorax:
  • breast
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • elbow
  • hip
  • knee
  • lower limb
  • shoulder
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with RPGR: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for RPGR Gene

Orthologs for RPGR Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPGR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RPGR 30
  • 93.81 (n)
Dog
(Canis familiaris)
 Mammalia RPGR 30
  • 81.89 (n)
Rat
(Rattus norvegicus)
 Mammalia Rpgr 30
  • 79.61 (n)
Mouse
(Mus musculus)
 Mammalia Rpgr 30 17 31
  • 75.75 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RPGR 31
  • 46 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia RPGR 31
  • 46 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia RPGR 31
  • 41 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RPGR 31
  • 48 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RPGR 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rpgr 30
  • 64.37 (n)
Str.3813 30
Zebrafish
(Danio rerio)
 Actinopterygii rpgrb 30 31
  • 60.49 (n)
 OneToMany
rpgra 31
  • 23 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 18 (a)
 OneToOne
Species where no ortholog for RPGR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RPGR Gene

ENSEMBL:
Gene Tree for RPGR (if available)
TreeFam:
Gene Tree for RPGR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPGR: view image

Paralogs for RPGR Gene

Paralogs for RPGR Gene

Pseudogenes.org Pseudogenes for RPGR Gene

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

Variants for RPGR Gene

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

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
636101 Likely Pathogenic: Retinitis pigmentosa 38,299,022(-) A/C NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
636102 Pathogenic: Retinitis pigmentosa; Retinal dystrophy 38,298,967(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
636103 Likely Pathogenic: Retinitis pigmentosa 38,298,961(-) CTCTT/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
636104 Likely Pathogenic: Cone-rod dystrophy 38,322,946(-) C/T SPLICE_ACCEPTOR_VARIANT
636105 Likely Pathogenic: Retinitis pigmentosa 38,288,044(-) G/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RPGR Gene

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

Variant ID Type Subtype PubMed ID
dgv510n21 CNV gain 19592680
esv3576846 CNV gain 25503493
nsv516365 CNV gain 19592680
nsv522957 CNV gain 19592680

Variation tolerance for RPGR Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.90; 87.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPGR Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RPGR Gene

MalaCards: The human disease database

(94) MalaCards diseases for RPGR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness
  • primary ciliary dyskinesia-retinitis pigmentosa syndrome
retinitis pigmentosa 3
  • rp3
cone-rod dystrophy, x-linked, 1
  • cordx1
macular degeneration, x-linked atrophic
  • macular degeneration, x-linked, atrophic
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RPGR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RPGR_HUMAN
  • Retinitis pigmentosa 3 (RP3) [MIM:300029]: An 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. {ECO:0000269 PubMed:10482958, ECO:0000269 PubMed:10737996, ECO:0000269 PubMed:10932196, ECO:0000269 PubMed:10937588, ECO:0000269 PubMed:10970770, ECO:0000269 PubMed:11180598, ECO:0000269 PubMed:11992260, ECO:0000269 PubMed:12657579, ECO:0000269 PubMed:14564670, ECO:0000269 PubMed:24981858, ECO:0000269 PubMed:8673101, ECO:0000269 PubMed:8817343, ECO:0000269 PubMed:9399904, ECO:0000269 PubMed:9855162}. 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. {ECO:0000269 PubMed:12920075, ECO:0000269 PubMed:14627685}. 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. {ECO:0000269 PubMed:11857109}. 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. {ECO:0000269 PubMed:12160730}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPGR

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

No data available for Genatlas for RPGR Gene

Publications for RPGR Gene

  1. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. (PMID: 14564670) Sharon D … Berson EL (American journal of human genetics 2003) 3 4 23 41
  2. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). (PMID: 8673101) Meindl A … Wright A (Nature genetics 1996) 2 3 4 23
  3. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. (PMID: 16969763) Pelletier V … Rozet JM (Human mutation 2007) 3 23 41
  4. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. (PMID: 17325176) Sandberg MA … Berson EL (Investigative ophthalmology & visual science 2007) 3 23 41
  5. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. (PMID: 15772089) Shu X … Wright AF (Human molecular genetics 2005) 3 4 23

ExternalLinks

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