Seroatlas · Human Serome Atlas

CHRNG

Acetylcholine receptor subunit gamma

Also known as: ACHG_HUMAN, ACHRG

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P07510
Gene
CHRNG
Ensembl
ENSG00000196811
Chromosome
2
Canonical length
517 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

517 residues, UniProt reviewed canonical sequence.

>P07510|CHRNG
     1  MHGGQGPLLL LLLLAVCLGA QGRNQEERLL ADLMQNYDPN LRPAERDSDV VNVSLKLTLT
    61  NLISLNEREE ALTTNVWIEM QWCDYRLRWD PRDYEGLWVL RVPSTMVWRP DIVLENNVDG
   121  VFEVALYCNV LVSPDGCIYW LPPAIFRSAC SISVTYFPFD WQNCSLIFQS QTYSTNEIDL
   181  QLSQEDGQTI EWIFIDPEAF TENGEWAIQH RPAKMLLDPA APAQEAGHQK VVFYLLIQRK
   241  PLFYVINIIA PCVLISSVAI LIHFLPAKAG GQKCTVAINV LLAQTVFLFL VAKKVPETSQ
   301  AVPLISKYLT FLLVVTILIV VNAVVVLNVS LRSPHTHSMA RGVRKVFLRL LPQLLRMHVR
   361  PLAPAAVQDT QSRLQNGSSG WSITTGEEVA LCLPRSELLF QQWQRQGLVA AALEKLEKGP
   421  ELGLSQFCGS LKQAAPAIQA CVEACNLIAC ARHQQSHFDN GNEEWFLVGR VLDRVCFLAM
   481  LSLFICGTAG IFLMAHYNRV PALPFPGDPR PYLPSPD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRNG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.35
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 32 nTPM
  • tongue: 1.3 nTPM
  • thymus: 0.4 nTPM
  • epididymis: 0.3 nTPM
  • prostate: 0.3 nTPM
  • salivary gland: 0.3 nTPM

Single-cell type

  • myonuclei: 79 nCPM
  • thymic myoid cells: 23 nCPM
  • myosatellite cells: 3.9 nCPM
  • cardiomyocytes: 3.7 nCPM
  • fibro-adipogenic progenitors: 2.7 nCPM
  • thymocytes: 2.5 nCPM

Immune cell

  • NK-cell: 0.8 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebral cortex: 1.1 nTPM
  • medulla oblongata: 1.1 nTPM
  • amygdala: 1 nTPM
  • basal ganglia: 1 nTPM
  • hippocampal formation: 0.9 nTPM
  • hypothalamus: 0.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRNG.

Disease | AllUniProt

Conditions CHRNG is implicated in, by any mechanism.

  • Multiple pterygium syndrome, lethal type (LMPS) MIM:253290
  • Multiple pterygium syndrome, Escobar variant (EVMPS) MIM:265000

Disease | GeneticClinVar

81 pathogenic / likely-pathogenic of 563 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on CHRNG was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.32
gnomAD pLI
0
gnomAD missense Z
-0.12
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CHRNG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CHRNG as an antibody target. Whether an autoantibody or antibody against CHRNG could matter depends on whether native CHRNG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHRNG is annotated at the cell surface, where native CHRNG is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

  • Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]

Canonical record: https://seroatlas.com/gene/CHRNG. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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