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Canine gene

PDE6B

Human counterpart: PDE6B

PDE6B 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.

In the reference databases

PDE6B 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 PDE6B. That ortholog is what connects PDE6B to a century of human medical genetics. The dog and human proteins are 92% identical.

In people, PDE6B appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 1.24). Constraint measures intolerance to loss-of-function only and does not indicate importance; some tolerant genes cause disease through other mechanisms.

In people, variants in the PDE6B gene have conflicting classifications in ClinVar, and none is expert-reviewed. The evidence is unsettled, not that variants here are benign.

In dogs, 21 of 1,005 Dog10K variants in this gene sit at a position kept conserved across 241 mammals (the exhaustive scan), candidates worth a closer look, never a diagnosis.

Translational evidence balance
dog-ahead (unaudited) · +1

The dog side carries more cited disease evidence than the human side. This is unaudited: it can mean the dog literature is genuinely ahead, or that our human ingestion is still incomplete. It is a lead to check, not a conclusion. Coverage, not importance. D = 1 dog vs H = 0 human cited disease channels.

Medicine face

Q2 · canine filled, medicine dark

PDE6B

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

dark · below bar

lit_any

Spectra

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

Open Spectra

Lookup · Discovery · Frontier

Lookup cleared (human P/LP signal exists below the 3-star expert-review bar; moderate-confidence anchor (Landrum et al. 2018)). Discovery recovered known. A candidate never fills a drug row. Frontier cause below bar.

Medicine plane

Mechanism

Catalytic beta subunit of the rod-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade.

Full function description, 4 more sentences
  • The PDE6 holoenzyme consists of two catalytic subunits (PDE6A and PDE6B) and two inhibitory gamma subunits (PDE6G).
  • Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification.
  • Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (Probable).
  • Involved in retinal circadian rhythm photoentrainment via modulation of UVA and orange light-induced phase-shift of the retina clock (By similarity).

Source UniProt via Open Targets · PMID 20940301 · PMID 8394174

Activation of the phototransduction cascade · Inactivation, recovery and regulation of the phototransduction cascade · Ca2+ pathway · Reactome

Molecules

    No labeled product for a disease of this gene. Dipyridamole and Pentoxifylline act on this protein and are labeled for other conditions. Acting on a protein is not treating a disease of it.

    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

    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 PDE6B 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 · gnomAD v4.1 (Karczewski 2020) · ClinVar (Landrum 2018) · Dog10K (Meadows 2023) · Zoonomia 241-way phyloP (Christmas 2023)