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Gene

RP2

RP2 activator of ARL3 GTPase

Summary

Cytogenetic location
Xp11.3
Coordinates
Chromosome X: 46,837,043–46,882,358 (GRCh38)
Exons
5 exons across 45.3 kb
Protein
350 amino acids
Also known as
TBCCD2, NME10, NM23-H10
MANE Select transcript
ENST00000218340.4NM_006915.3
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

    • Rp2-Related Retinopathy

      A retinopathy caused by variants in the X-linked gene, RP2.

      • ClinGen rates the link definitive
      • 4 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.

      • 3 GenCC submitters rate it definitive or strong

How RP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where RP2 sits. RP2 and 11 genes near it on chromosome X, from 46,359,701 to 47,359,700.Chromosome XXp11.3p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2846.4 Mb46.6 Mb46.8 Mb47 Mb47.2 MbKRABD4: 46,447,205–46,498,471, forward strandKRABD4ZNF674: 46,497,725–46,545,459, reverse strandZNF674CHST7: 46,573,391–46,626,260, forward strandCHST7SLC9A7: 46,599,251–46,759,215, reverse strandSLC9A7RP2: 46,837,043–46,882,358, forward strandRP2JADE3: 46,912,276–47,061,242, forward strandJADE3RGN: 47,061,388–47,096,431, forward strandRGNNDUFB11: 47,142,071–47,145,507, reverse strandNDUFB11RBM10: 47,144,284–47,186,814, forward strandRBM10UBA1: 47,190,713–47,215,173, forward strandUBA1CDK16: 47,217,860–47,230,000, forward strandCDK16USP11: 47,232,866–47,248,328, forward strandUSP11Diagram of RP2: 5 exons on the forward strand of chromosome XExon 1: 9 known disease-causing sitesExon 2: 29 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 1: 46,837,043–46,837,202, 160 basesExon 2: 46,853,476–46,854,141, 666 basesExon 3: 46,859,988–46,860,102, 115 basesExon 4: 46,877,505–46,877,590, 86 basesExon 5: 46,879,686–46,882,358, 2,673 bases123455′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 3.7 kb of the gene's 45.3 kb; 1,053 of those bases code for the protein.

How a genome test reads RP2

55

positions in RP2 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 45.3 kb of RP2, introns included, not only the 3.7 kb of exons.

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.). RP2 gene: RP2 activator of ARL3 GTPase. Retrieved 17 October 2026, from https://dantelabs.com/genes/rp2

Vancouver

Dante Labs. RP2 gene: RP2 activator of ARL3 GTPase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rp2

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