Details for: RPGR

Gene ID: 6103

Symbol: RPGR

Ensembl ID: ENSG00000156313

Description: retinitis pigmentosa GTPase regulator

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 58.3374
    Cell Significance Index: -23.7000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 58.2476
    Cell Significance Index: -27.5000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 51.9649
    Cell Significance Index: -26.7300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.4778
    Cell Significance Index: -23.3700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.1125
    Cell Significance Index: -27.0900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.0834
    Cell Significance Index: -18.6900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.0896
    Cell Significance Index: 33.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.2312
    Cell Significance Index: 77.6000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.9338
    Cell Significance Index: 13.4300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.8418
    Cell Significance Index: 14.8800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7403
    Cell Significance Index: 148.5100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.6866
    Cell Significance Index: 197.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6806
    Cell Significance Index: 135.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6519
    Cell Significance Index: 356.0200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6446
    Cell Significance Index: 70.1100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5947
    Cell Significance Index: 35.7000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5771
    Cell Significance Index: 93.8600
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.5402
    Cell Significance Index: 3.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4547
    Cell Significance Index: 44.9800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4476
    Cell Significance Index: 28.8800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.4392
    Cell Significance Index: 4.9900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.4209
    Cell Significance Index: 11.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4058
    Cell Significance Index: 22.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3138
    Cell Significance Index: 112.5400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2861
    Cell Significance Index: 6.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2852
    Cell Significance Index: 7.1300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2839
    Cell Significance Index: 196.3600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2516
    Cell Significance Index: 19.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2359
    Cell Significance Index: 5.1100
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.2255
    Cell Significance Index: 1.7800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.2155
    Cell Significance Index: 3.6300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1729
    Cell Significance Index: 23.7500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1639
    Cell Significance Index: 7.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1517
    Cell Significance Index: 18.6600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1368
    Cell Significance Index: 24.6600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1340
    Cell Significance Index: 5.0800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1242
    Cell Significance Index: 54.9100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1215
    Cell Significance Index: 5.3800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1171
    Cell Significance Index: 4.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0913
    Cell Significance Index: 6.3200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0574
    Cell Significance Index: 10.9300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0102
    Cell Significance Index: 19.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0057
    Cell Significance Index: 10.4300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0049
    Cell Significance Index: 0.3300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0030
    Cell Significance Index: 4.6700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0020
    Cell Significance Index: 1.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0058
    Cell Significance Index: -2.6400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0142
    Cell Significance Index: -19.3600
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: -0.0145
    Cell Significance Index: -0.1500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0184
    Cell Significance Index: -2.1800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0196
    Cell Significance Index: -1.4600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0235
    Cell Significance Index: -17.2200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0240
    Cell Significance Index: -17.7600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0285
    Cell Significance Index: -2.9100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0287
    Cell Significance Index: -21.7000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0352
    Cell Significance Index: -1.8300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0419
    Cell Significance Index: -23.6400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0464
    Cell Significance Index: -29.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0474
    Cell Significance Index: -8.0900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0512
    Cell Significance Index: -0.6100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0597
    Cell Significance Index: -7.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0699
    Cell Significance Index: -9.0400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0722
    Cell Significance Index: -10.5000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0889
    Cell Significance Index: -6.2900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1041
    Cell Significance Index: -12.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1138
    Cell Significance Index: -3.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1202
    Cell Significance Index: -6.3100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1283
    Cell Significance Index: -27.0200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1342
    Cell Significance Index: -3.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1366
    Cell Significance Index: -2.9100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1437
    Cell Significance Index: -16.4600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1700
    Cell Significance Index: -10.4500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2021
    Cell Significance Index: -9.5000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2110
    Cell Significance Index: -9.8400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2314
    Cell Significance Index: -4.8000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2318
    Cell Significance Index: -24.1400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2885
    Cell Significance Index: -5.6300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2894
    Cell Significance Index: -14.6200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.2960
    Cell Significance Index: -4.5800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3153
    Cell Significance Index: -24.9700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3184
    Cell Significance Index: -4.7000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3379
    Cell Significance Index: -9.0200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3678
    Cell Significance Index: -19.1600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3719
    Cell Significance Index: -22.8000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.4141
    Cell Significance Index: -11.9300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4160
    Cell Significance Index: -11.8700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4212
    Cell Significance Index: -11.2900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4343
    Cell Significance Index: -11.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4437
    Cell Significance Index: -12.7200
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.4491
    Cell Significance Index: -6.1500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4732
    Cell Significance Index: -15.1600
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.4824
    Cell Significance Index: -6.5100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5488
    Cell Significance Index: -14.4300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5639
    Cell Significance Index: -17.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5761
    Cell Significance Index: -20.0200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5803
    Cell Significance Index: -20.3300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.5880
    Cell Significance Index: -4.8000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5930
    Cell Significance Index: -21.7700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5980
    Cell Significance Index: -19.5800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6081
    Cell Significance Index: -15.6300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Location**: The RPGR gene is located on the X chromosome, making it a candidate for X-linked inheritance. 2. **Function**: RPGR regulates the activity of GTPases, which are essential for cilia function, photoreceptor maintenance, and intracellular protein transport. 3. **Expression**: RPGR is highly expressed in photoreceptor cells, ciliated cells, and other cells involved in cilia function. 4. **Pathways**: RPGR is involved in various signaling pathways, including guanyl-nucleotide exchange factor activity, protein binding, and ubiquitin-dependent protein catabolic process. **Pathways and Functions** 1. **Cilia Function**: RPGR regulates the activity of GTPases, which are essential for cilia motility, structure, and function. 2. **Photoreceptor Maintenance**: RPGR maintains the structural and functional integrity of photoreceptor cells, particularly the outer segment. 3. **Intracellular Protein Transport**: RPGR regulates the transport of proteins within cells, including those involved in cilia function and photoreceptor maintenance. 4. **Guanyl-Nucleotide Exchange Factor Activity**: RPGR activates guanyl-nucleotide exchange factors, which are essential for GTPase activity and cilia function. **Clinical Significance** 1. **Retinitis Pigmentosa**: Mutations in the RPGR gene are a common cause of X-linked retinitis pigmentosa, a group of inherited eye disorders characterized by progressive vision loss. 2. **Kassabian Syndrome**: RPGR mutations are associated with Kassabian syndrome, a rare disorder characterized by retinitis pigmentosa, obesity, and intellectual disability. 3. **Bardet-Biedl Syndrome**: RPGR mutations are implicated in Bardet-Biedl syndrome, a disorder characterized by retinitis pigmentosa, obesity, and polydactyly. 4. **Other Disorders**: RPGR mutations have been associated with other disorders, including nephronophthisis, polycystic kidney disease, and idiopathic retinitis pigmentosa. In conclusion, the RPGR gene plays a critical role in maintaining cilia function, photoreceptor maintenance, and overall health. Mutations in the RPGR gene can lead to various ciliopathies, highlighting the importance of this gene in understanding and treating these disorders.

Genular Protein ID: 1663146533

Symbol: RPGR_HUMAN

Name: X-linked retinitis pigmentosa GTPase regulator

UniProtKB Accession Codes:

Q92834 B1ARN3 E9PE28 O00702 O00737 Q3KN84 Q8N5T6 Q93039 Q9HD29 Q9UMR1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 9 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 RNAct 1 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 2 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8673101

Title: A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

PubMed ID: 8673101

DOI: 10.1038/ng0596-35

PubMed ID: 8817343

Title: Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

PubMed ID: 8817343

DOI: 10.1093/hmg/5.7.1035

PubMed ID: 10401007

Title: RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

PubMed ID: 10401007

DOI: 10.1093/hmg/8.8.1571

PubMed ID: 11702207

Title: DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.

PubMed ID: 11702207

DOI: 10.1007/s004390100572

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10932196

Title: Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

PubMed ID: 10932196

DOI: 10.1038/78182

PubMed ID: 9990021

Title: The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.

PubMed ID: 9990021

DOI: 10.1073/pnas.96.4.1315

PubMed ID: 10970770

Title: 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

DOI: 10.1086/303091

PubMed ID: 10958648

Title: The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

PubMed ID: 10958648

DOI: 10.1093/hmg/9.14.2095

PubMed ID: 11857109

Title: X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

PubMed ID: 11857109

DOI: 10.1086/339620

PubMed ID: 12160730

Title: X-linked recessive atrophic macular degeneration from RPGR mutation.

PubMed ID: 12160730

DOI: 10.1006/geno.2002.6815

PubMed ID: 12140192

Title: Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.

PubMed ID: 12140192

DOI: 10.1093/hmg/11.16.1899

PubMed ID: 12920075

Title: RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

PubMed ID: 12920075

DOI: 10.1136/jmg.40.8.609

PubMed ID: 15772089

Title: RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

PubMed ID: 15772089

DOI: 10.1093/hmg/ddi129

PubMed ID: 16043481

Title: RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.

PubMed ID: 16043481

DOI: 10.1074/jbc.m505827200

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19430481

Title: A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

PubMed ID: 19430481

DOI: 10.1038/ng.366

PubMed ID: 21933838

Title: The role of RPGR in cilia formation and actin stability.

PubMed ID: 21933838

DOI: 10.1093/hmg/ddr423

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23559067

Title: The interplay between RPGR, PDE? and Arl2/3 regulate the ciliary targeting of farnesylated cargo.

PubMed ID: 23559067

DOI: 10.1038/embor.2013.37

PubMed ID: 24981858

Title: C2 domains as protein-protein interaction modules in the ciliary transition zone.

PubMed ID: 24981858

DOI: 10.1016/j.celrep.2014.05.049

PubMed ID: 9399904

Title: Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

PubMed ID: 9399904

DOI: 10.1086/301646

PubMed ID: 9855162

Title: X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

PubMed ID: 9855162

DOI: 10.1016/s0161-6420(98)91231-3

PubMed ID: 10482958

Title: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

PubMed ID: 10482958

DOI: 10.1038/sj.ejhg.5200352

PubMed ID: 10480356

Title: Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.

PubMed ID: 10480356

DOI: 10.1007/s004399900110

PubMed ID: 10737996

Title: Novel mutations of the RPGR gene in RP3 families.

PubMed ID: 10737996

DOI: 10.1002/(sici)1098-1004(200004)15:4<386::aid-humu23>3.0.co;2-4

PubMed ID: 10980543

Title: Sequence variation within the RPGR gene: evidence for a founder complex allele.

PubMed ID: 10980543

DOI: 10.1002/1098-1004(200009)16:3<273::aid-humu19>3.0.co;2-w

PubMed ID: 10937588

Title: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

PubMed ID: 10937588

PubMed ID: 11180598

Title: Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

PubMed ID: 11180598

DOI: 10.1002/1098-1004(200102)17:2<151::aid-humu7>3.0.co;2-w

PubMed ID: 11992260

Title: A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

PubMed ID: 11992260

DOI: 10.1086/340848

PubMed ID: 14564670

Title: RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

PubMed ID: 14564670

DOI: 10.1086/379379

PubMed ID: 12657579

Title: 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

DOI: 10.1167/iovs.02-0605

PubMed ID: 14627685

Title: Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.

PubMed ID: 14627685

DOI: 10.1136/jmg.40.11.e118

PubMed ID: 16969763

Title: 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

DOI: 10.1002/humu.20417

Sequence Information:

  • Length: 1020
  • Mass: 113387
  • Checksum: EAB16275A9A436C3
  • Sequence:
    • MREPEELMPD SGAVFTFGKS KFAENNPGKF WFKNDVPVHL SCGDEHSAVV TGNNKLYMFG 
SNNWGQLGLG SKSAISKPTC VKALKPEKVK LAACGRNHTL VSTEGGNVYA TGGNNEGQLG 
LGDTEERNTF HVISFFTSEH KIKQLSAGSN TSAALTEDGR LFMWGDNSEG QIGLKNVSNV 
CVPQQVTIGK PVSWISCGYY HSAFVTTDGE LYVFGEPENG KLGLPNQLLG NHRTPQLVSE 
IPEKVIQVAC GGEHTVVLTE NAVYTFGLGQ FGQLGLGTFL FETSEPKVIE NIRDQTISYI 
SCGENHTALI TDIGLMYTFG DGRHGKLGLG LENFTNHFIP TLCSNFLRFI VKLVACGGCH 
MVVFAAPHRG VAKEIEFDEI NDTCLSVATF LPYSSLTSGN VLQRTLSARM RRRERERSPD 
SFSMRRTLPP IEGTLGLSAC FLPNSVFPRC SERNLQESVL SEQDLMQPEE PDYLLDEMTK 
EAEIDNSSTV ESLGETTDIL NMTHIMSLNS NEKSLKLSPV QKQKKQQTIG ELTQDTALTE 
NDDSDEYEEM SEMKEGKACK QHVSQGIFMT QPATTIEAFS DEEVGNDTGQ VGPQADTDGE 
GLQKEVYRHE NNNGVDQLDA KEIEKESDGG HSQKESEAEE IDSEKETKLA EIAGMKDLRE 
REKSTKKMSP FFGNLPDRGM NTESEENKDF VKKRESCKQD VIFDSERESV EKPDSYMEGA 
SESQQGIADG FQQPEAIEFS SGEKEDDEVE TDQNIRYGRK LIEQGNEKET KPIISKSMAK 
YDFKCDRLSE IPEEKEGAED SKGNGIEEQE VEANEENVKV HGGRKEKTEI LSDDLTDKAE 
DHEFSKTEEL KLEDVDEEIN AENVESKKKT VGDDESVPTG YHSKTEGAER TNDDSSAETI 
EKKEKANLEE RAICEYNENP KGYMLDDADS SSLEILENSE TTPSKDMKKT KKIFLFKRVP 
SINQKIVKNN NEPLPEIKSI GDQIILKSDN KDADQNHMSQ NHQNIPPTNT ERRSKSCTIL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.