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Canine gene

RPGR

Human counterpart: RPGR

RPGR is a gene catalogued in the canine genome. Below are the inherited conditions OMIA links to it in dogs, its human counterpart, and its canonical records across the genomics world.

Conditions linked to this gene

The inherited conditions OMIA associates with RPGR in dogs. Each links to the full record.

In the reference databases

RPGR as it is catalogued across the genomics world. Each link is the canonical record, so this gene composes with everything those resources know.

The human counterpart

In humans, this gene's counterpart is RPGR. That ortholog is what connects RPGR to a century of human medical genetics. The dog and human proteins are 47% identical (a lower-confidence 1:1 call, shown for transparency, not hidden).

In people, variants in the RPGR gene are classified as pathogenic in ClinVar for 1 expert-reviewed condition.

Translational evidence balance
balanced · 0

Dog and human evidence are symmetric here, a validated cross-species footprint. Coverage, not importance. D = 1 dog vs H = 1 human cited disease channels.

Medicine face

Q2 · canine filled, medicine dark

RPGR

Two planes on one gene. Disagreement is the reading, not a hole to fill.A characterized canine model. We hold no labeled human product on this target.

Canine plane

Coverage

answered

lit_all

Spectra

4 named streams agree. A recount, not a medicine vote.

Open Spectra

Lookup · Discovery · Frontier

Lookup abstained. Discovery recovered known. A candidate never fills a drug row. Frontier is not the subject here.

Medicine plane

Mechanism

Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP.

Full function description, 6 more sentences
  • GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A.
  • GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity).
  • Involved in photoreceptor integrity (By similarity).
  • May control cilia formation by regulating actin stress filaments and cell contractility.
  • May be involved in microtubule organization and regulation of transport in primary cilia.
  • May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity).

Source UniProt via Open Targets · PMID 20631154 · PMID 21933838

Molecules

We hold no labeled human product and no Open Targets approval row for this target.

Canine trials

unqueryable

We hold no canine registry row. The AVMA Veterinary Clinical Trials Registry is the index that would hold one. This station is unqueryable until that ingest exists. That is not evidence that nobody runs trials in dogs.

PK / tox station

stub

This station is not wired. No PK or tox numbers.

This is not a treatment recommendation and not a claim about any individual dog.

Molecule direction and mechanism of action include ChEMBL (CC BY-SA 3.0).

Coverage · Spectra · Frontier

Research tools for this gene
Dog10K lookup Candidate models AVCG classification table

Lookup and discovery are candidate-framed research surfaces. Classification renders AVCG grades we cite; Sniff does not score variants with a model of its own.

On the numbers

Per-breed allele frequencies across the atlas are surfaced for the trait loci Sniff has verified a direction-of-effect for. For RPGR we show the cited identity and disease associations, and we would rather show you exactly that than a frequency we cannot yet interpret honestly. See the gene catalog for trait loci with frequency views and every disease-linked gene page.

How to cite this page

Gene identity and disease associations are grounded in OMIA (CC-BY) and the open Sniff Atlas. Full citation formats at sniff.world/cite.

Last updated
Sources: OMIA · Sniff gene crossrefs · Ensembl / NCBI / HGNC · ClinVar (Landrum 2018)