CNPY3

Chr 6

canopy FGF signaling regulator 3

Also known as: CAG4A, DEE60, EIEE60, ERDA5, PRAT4A, TNRC5

NCBI Gene: 10695 ENSG00000137161 UniProt: Q9BT09

The protein functions as a co-chaperone for HSP90B1 and is required for proper folding and endoplasmic reticulum export of most toll-like receptors, controlling both innate and adaptive immune responses. Biallelic mutations cause developmental and epileptic encephalopathy 60, inherited in an autosomal recessive pattern. This represents a neuroinflammatory condition affecting both developmental and epileptic manifestations in the pediatric population.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 60

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.57

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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