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Canine gene

BEST1

Human counterpart: BEST1

BEST1 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 BEST1 in dogs. Each links to the full record.

In the reference databases

BEST1 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 BEST1. That ortholog is what connects BEST1 to a century of human medical genetics. The dog and human proteins are 79% identical.

In people, BEST1 appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 1.28). 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 BEST1 gene have conflicting classifications in ClinVar, and none is expert-reviewed. The evidence is unsettled, not that variants here are benign.

In dogs, 2 of 452 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
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

BEST1

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

6 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

Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+).

Full function description, 5 more sentences
  • Allows the movement of chloride and hydrogencarbonate.
  • Found in a partially open conformation leading to significantly smaller chloride movement.
  • Upon F2R/PAR-1 activation, the sequestered calcium is released into the cytosol of astrocytes, leading to the (Ca2+)-dependent release of L- glutamate into the synaptic cleft that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation (By similarity).
  • Upon activation of the norepinephrine- alpha-1 adrenergic receptor signaling pathway, transports as well D- serine than L-glutamate in a (Ca2+)-dependent manner, leading to activation of adjacent NMDAR receptors and therefore regulates the heterosynaptic long-term depression and metaplasticity during initial memory acquisition (By similarity).
  • Releases the 4-aminobutanoate neurotransmitter in a (Ca2+)-dependent manner, and participates in its tonic release from cerebellar glial cells (By similarity).

Source UniProt via Open Targets · PMID 11904445 · PMID 12907679 · PMID 18179881 · PMID 18400985 · PMID 19853238 · PMID 21330666 · PMID 26200502 · PMID 26720466 · PMID 35789156

Stimuli-sensing channels · Reactome

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 BEST1 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)