Seroatlas · Human Serome Atlas

CHRND

Acetylcholine receptor subunit delta

Also known as: ACHD_HUMAN, ACHRD

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

Protein identityUniProt · HPA

UniProt accession
Q07001
Gene
CHRND
Ensembl
ENSG00000135902
Chromosome
2
Canonical length
517 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

Canonical amino-acid sequenceUniProt

517 residues, UniProt reviewed canonical sequence.

>Q07001|CHRND
     1  MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
    61  SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND
   121  GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT
   181  LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL
   241  IIRRKPLFYI INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP
   301  ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH
   361  MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP
   421  PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV
   481  MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRND 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)
0.34
Highest tissue expression
75 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 75 nTPM
  • tongue: 5.9 nTPM
  • retina: 5.8 nTPM
  • salivary gland: 1.2 nTPM
  • prostate: 0.5 nTPM
  • testis: 0.2 nTPM

Single-cell type

  • thymic myoid cells: 22 nCPM
  • müller glia: 22 nCPM
  • myonuclei: 15 nCPM
  • myosatellite cells: 5.6 nCPM
  • gastric progenitor cells: 2.6 nCPM
  • epicardial cells: 2.3 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • hypothalamus: 0.5 nTPM
  • medulla oblongata: 0.5 nTPM
  • midbrain: 0.5 nTPM
  • thalamus: 0.5 nTPM
  • cerebral cortex: 0.4 nTPM
  • pons: 0.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRND.

Disease | AllUniProt

Conditions CHRND is implicated in, by any mechanism.

  • Multiple pterygium syndrome, lethal type (LMPS) MIM:253290
  • Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) MIM:616321
  • Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) MIM:616322
  • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C) MIM:616323

Disease | GeneticClinVar

45 pathogenic / likely-pathogenic of 635 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.98
gnomAD pLI
0
gnomAD missense Z
0.05
DepMap mean gene effect
-0.14
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Annotation status

The present source text does not explicitly label CHRND as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHRND. 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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