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Gene

RPGR

retinitis pigmentosa GTPase regulator

Summary

Cytogenetic location
Xp11.4
Coordinates
Chromosome X: 38,284,408–38,327,509 (GRCh38)
Exons
15 exons across 43.1 kb
Protein
1,152 amino acids
Inheritance
X-linked recessive
Also known as
CORDX1
Previous symbols
CRD, RP3, RP15, COD1
MANE Select transcript
ENST00000645032.1NM_001034853.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Retinitis Pigmentosa

    • RPGR-Related RetinopathyX-linked recessive

      A retinal dystrophy caused by changes in the RPGR gene, the most common cause of X-linked retinitis pigmentosa.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 4 GenCC submitters rate it definitive or strong

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How RPGR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome X, with a bracket where RPGR sits. RPGR and 10 genes near it on chromosome X, from 37,805,959 to 38,805,958.Chromosome XXp11.4p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2838 Mb38.2 Mb38.4 Mb38.6 Mb38.8 Mb: 37,349,330–38,687,674, forward strandCYBB: 37,780,018–37,816,994, forward strandCYBBDYNLT3: 37,836,611–37,847,593, reverse strandDYNLT3H2AP: 37,990,779–37,991,314, forward strandH2APH2AL3: 37,994,272–37,994,904, forward strandH2AL3SYTL5: 38,006,515–38,128,964, forward strandSYTL5SRPX: 38,149,336–38,220,941, reverse strandSRPXRPGR: 38,284,408–38,327,509, reverse strandRPGROTC: 38,327,598–38,424,632, forward strandOTCTSPAN7: 38,561,498–38,689,249, forward strandTSPAN7MID1IP1: 38,801,417–38,806,555, forward strandMID1IP1Diagram of RPGR: 15 exons on the reverse strand of chromosome XExon 15: 321 known disease-causing sitesExon 14: 17 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 14 known disease-causing sitesExon 10: 18 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 8: 21 known disease-causing sitesExon 7: 15 known disease-causing sitesExon 6: 17 known disease-causing sitesExon 5: 14 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 15: 38,284,408–38,287,245, 2,838 bases. 77 variants with a page in exon 15. List themExon 14: 38,287,861–38,288,041, 181 bases. 6 variants with a page in exon 14. List themExon 13: 38,290,959–38,291,024, 66 bases. 3 variants with a page in exon 13. List themExon 12: 38,291,393–38,291,484, 92 bases. 1 variant with a page in exon 12. List themExon 11: 38,297,284–38,297,452, 169 bases. 5 variants with a page in exon 11. List themExon 10: 38,298,956–38,299,141, 186 bases. 8 variants with a page in exon 10. List themExon 9: 38,301,247–38,301,371, 125 bases. 1 variant with a page in exon 9. List themExon 8: 38,304,635–38,304,790, 156 bases. 9 variants with a page in exon 8. List themExon 7: 38,310,615–38,310,773, 159 bases. 6 variants with a page in exon 7. List themExon 6: 38,317,316–38,317,465, 150 bases. 9 variants with a page in exon 6. List themExon 5: 38,318,829–38,318,987, 159 bases. 2 variants with a page in exon 5. List themExon 4: 38,321,027–38,321,089, 63 bases. 5 variants with a page in exon 4. List themExon 3: 38,322,853–38,322,945, 93 bases. 3 variants with a page in exon 3. List themExon 2: 38,323,399–38,323,524, 126 bases. 4 variants with a page in exon 2. List themExon 1: 38,327,340–38,327,509, 170 bases. 2 variants with a page in exon 1. List them15141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.7 kb of the gene's 43.1 kb; 3,459 of those bases code for the protein.

How a genome test reads RPGR

551

positions in RPGR where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 43.1 kb of RPGR, introns included, not only the 4.7 kb of exons.

Variants with a page (184)

The RPGR variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A308Pc.922G>CExon 838,304,647Likely pathogenic3 stars out of 4 reviewed by expert panel
A365Cfs*12c.1092dupExon 1038,299,108Pathogenic3 stars out of 4 reviewed by expert panel
A781Rfs*34c.2340delExon 1538,286,658Pathogenic3 stars out of 4 reviewed by expert panel
c.28+1G>AIntron 138,327,339Pathogenic3 stars out of 4 reviewed by expert panel
c.28+1G>CIntron 138,327,339Pathogenic3 stars out of 4 reviewed by expert panel
c.28+2T>CIntron 138,327,338Pathogenic3 stars out of 4 reviewed by expert panel
c.28+2T>GIntron 138,327,338Pathogenic3 stars out of 4 reviewed by expert panel
c.29-2A>GIntron 138,323,526Pathogenic3 stars out of 4 reviewed by expert panel
c.154+1G>AIntron 238,323,398Pathogenic3 stars out of 4 reviewed by expert panel
c.154+3_154+6delIntron 238,323,392Pathogenic3 stars out of 4 reviewed by expert panel

See all 184 RPGR variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RPGR gene: retinitis pigmentosa GTPase regulator. Retrieved 16 October 2026, from https://dantelabs.com/genes/rpgr

Vancouver

Dante Labs. RPGR gene: retinitis pigmentosa GTPase regulator [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rpgr

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