Seroatlas · Human Serome Atlas

CHRNA2

Neuronal acetylcholine receptor subunit alpha-2

Also known as: ACHA2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q15822
Gene
CHRNA2
Ensembl
ENSG00000120903
Chromosome
8
Canonical length
529 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Plasma membrane,Cytokinetic bridge

OverviewNCBI Gene

Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

529 residues, UniProt reviewed canonical sequence.

>Q15822|CHRNA2
     1  MGPSCPVFLS FTKLSLWWLL LTPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED
    61  RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE KNQMMTTNVW LKQEWSDYKL
   121  RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK
   181  SSCSIDVTFF PFDQQNCKMK FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY
   241  NSKKYDCCAE IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC
   301  ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL NVHHRSPSTH
   361  TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS YHWLESNVDA EEREVVVEEE
   421  DRWACAGHVA PSVGTLCSHG HLHSGASGPK AEALLQEGEL LLSPHMQKAL EGVHYIADHL
   481  RSEDADSSVK EDWKYVAMVI DRIFLWLFII VCFLGTIGLF LPPFLAGMI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRNA2 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)
0.4
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • prostate: 27 nTPM
  • cerebral cortex: 3.4 nTPM
  • retina: 3.4 nTPM
  • thymus: 2.7 nTPM
  • hypothalamus: 1.7 nTPM
  • midbrain: 1.5 nTPM

Single-cell type

  • retinal amacrine cells: 53 nCPM
  • platelets: 38 nCPM
  • prostatic glandular cells: 35 nCPM
  • epicardial cells: 23 nCPM
  • epididymal efferent duct absorptive cells: 20 nCPM
  • brain inhibitory neurons: 5.4 nCPM

Immune cell

  • eosinophil: 0.3 nTPM
  • total PBMC: 0.3 nTPM
  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • thalamus: 157 nTPM
  • cerebellum: 89 nTPM
  • midbrain: 49 nTPM
  • amygdala: 39 nTPM
  • medulla oblongata: 37 nTPM
  • hypothalamus: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRNA2.

Disease | AllUniProt

Conditions CHRNA2 is implicated in, by any mechanism.

  • Epilepsy, nocturnal frontal lobe, 4 (ENFL4) MIM:610353
  • Seizures, benign familial infantile, 6 (BFIS6) MIM:610353

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 848 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Autosomal dominant nocturnal frontal lobe epilepsy 4

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)
1.26
gnomAD pLI
0
gnomAD missense Z
-0.3
DepMap mean gene effect
0
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 CHRNA2 as an antibody target. Whether an autoantibody or antibody against CHRNA2 could matter depends on whether native CHRNA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHRNA2 is annotated at the cell surface, where native CHRNA2 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 CHRNA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHRNA2. 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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