Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000044

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000108

Automatic assignment of GO terms using logical inference, based on on inter-ontology links

GO_REF:0000117

Electronic Gene Ontology annotations created by ARBA machine learning models

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:25416956

A proteome-scale map of the human interactome network.

Five CHRNG pairs have positive binary-screen evidence; native tissue encounter and receptor mechanisms remain unestablished.

PMID:29892012

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

The tested CHRNG interaction set persists under the recorded variant context in a controlled two-hybrid assay.

PMID:31515488

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

The source records an assay-supported CHRNG–NOTCH2NLA interaction with partner-variant context.

PMID:3967651

Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor.

Human CHRNG encodes a gamma receptor precursor with conserved membrane-receptor architecture.

PMID:8040310

Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.

Antibody reactivity against human fetal versus adult receptor preparations is associated with neonatal myasthenia, providing disease-context support for fetal receptor function.

Reactome:R-HSA-622325

Activation of highly sodium permeable postsynaptic nicotinic acetylcholine receptors

The event contains a P07510 plasma-membrane entity through a broader receptor-set model whose composition needs separate interpretation.

Reactome:R-HSA-629588

Binding of acetylcholine to highly sodium permeable postsynaptic acetylcholine receptors

The event contains a P07510 plasma-membrane entity through a broader receptor-set model whose composition needs separate interpretation.

PMID:16527851

The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading.

Human gamma-containing fetal receptors generate agonist-evoked current with approximately3% fractional calcium current.

PMID:16826520

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

CHRNG variants cause prenatal neuromuscular disease; corresponding mouse gamma substitutions prevent surface expression of the assembled receptor.

PMID:16826531

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Human biallelic CHRNG variants underlie lethal and nonlethal multiple-pterygium/fetal-akinesia phenotypes.

PMID:39085615

Structural switch in acetylcholine receptors in developing muscle.

Native bovine fetal receptor structure resolves gamma in the pore and acetylcholine-binding interface and explains developmental receptor differences.

PMID:41826296

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

A CHRNG case without pterygia broadens the clinical presentation; variant functional consequences remain incompletely resolved.

file:human/CHRNG/CHRNG-source-evidence.json

CHRNG source-specific receptor, interaction, product and propagation evidence