Seroatlas · Human Serome Atlas

CHRNA4

Neuronal acetylcholine receptor subunit alpha-4

Also known as: ACHA4_HUMAN, BFNC, EBN, EBN1

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

Protein identityUniProt · HPA

UniProt accession
P43681
Gene
CHRNA4
Ensembl
ENSG00000101204
Chromosome
20
Canonical length
627 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

627 residues, UniProt reviewed canonical sequence.

>P43681|CHRNA4
     1  MELGGPGAPR LLPPLLLLLG TGLLRASSHV ETRAHAEERL LKKLFSGYNK WSRPVANISD
    61  VVLVRFGLSI AQLIDVDEKN QMMTTNVWVK QEWHDYKLRW DPADYENVTS IRIPSELIWR
   121  PDIVLYNNAD GDFAVTHLTK AHLFHDGRVQ WTPPAIYKSS CSIDVTFFPF DQQNCTMKFG
   181  SWTYDKAKID LVNMHSRVDQ LDFWESGEWV IVDAVGTYNT RKYECCAEIY PDITYAFVIR
   241  RLPLFYTINL IIPCLLISCL TVLVFYLPSE CGEKITLCIS VLLSLTVFLL LITEIIPSTS
   301  LVIPLIGEYL LFTMIFVTLS IVITVFVLNV HHRSPRTHTM PTWVRRVFLD IVPRLLLMKR
   361  PSVVKDNCRR LIESMHKMAS APRFWPEPEG EPPATSGTQS LHPPSPSFCV PLDVPAEPGP
   421  SCKSPSDQLP PQQPLEAEKA SPHPSPGPCR PPHGTQAPGL AKARSLSVQH MSSPGEAVEG
   481  GVRCRSRSIQ YCVPRDDAAP EADGQAAGAL ASRNTHSAEL PPPDQPSPCK CTCKKEPSSV
   541  SPSATVKTRS TKAPPPHLPL SPALTRAVEG VQYIADHLKA EDTDFSVKED WKYVAMVIDR
   601  IFLWMFIIVC LLGTVGLFLP PWLAGMI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRNA4 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)
0.45
Highest tissue expression
83 nTPM

Expression across tissuesHPA

Tissue

  • liver: 83 nTPM
  • midbrain: 14 nTPM
  • parathyroid gland: 12 nTPM
  • cerebral cortex: 11 nTPM
  • hypothalamus: 8.5 nTPM
  • amygdala: 7.7 nTPM

Single-cell type

  • retinal horizontal cells: 110 nCPM
  • hepatocytes: 69 nCPM
  • gonadotrophs: 26 nCPM
  • proximal tubule cells: 25 nCPM
  • epididymal efferent duct absorptive cells: 25 nCPM
  • retinal amacrine cells: 16 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

  • thalamus: 70 nTPM
  • midbrain: 42 nTPM
  • hypothalamus: 27 nTPM
  • amygdala: 23 nTPM
  • cerebral cortex: 22 nTPM
  • pons: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRNA4.

Disease | AllUniProt

Conditions CHRNA4 is implicated in, by any mechanism.

  • Epilepsy, nocturnal frontal lobe, 1 (ENFL1) MIM:600513

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 1,157 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)
0.82
gnomAD pLI
0
gnomAD missense Z
0.34
DepMap mean gene effect
-0.05
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 CHRNA4 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 CHRNA4 as an antibody target. Whether an autoantibody or antibody against CHRNA4 could matter depends on whether native CHRNA4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHRNA4 is annotated at the cell surface, where native CHRNA4 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 CHRNA4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHRNA4. 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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