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Canine gene

USH2A

Human counterpart: USH2A

USH2A is a gene catalogued in the canine genome. Here is its canonical identity across the genomics world and, where documented, its human counterpart.

In the reference databases

USH2A 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 USH2A. That ortholog is what connects USH2A to a century of human medical genetics. The dog and human proteins are 84% identical (a lower-confidence 1:1 call, shown for transparency, not hidden).

In people, USH2A appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 0.85). 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 USH2A gene are classified as pathogenic in ClinVar for 5 expert-reviewed conditions.

In dogs, 280 of 21,068 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.

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 USH2A 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)