Seroatlas · Human Serome Atlas

CHRNB2

Neuronal acetylcholine receptor subunit beta-2

Also known as: ACHB2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P17787
Gene
CHRNB2
Ensembl
ENSG00000160716
Chromosome
1
Canonical length
502 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

502 residues, UniProt reviewed canonical sequence.

>P17787|CHRNB2
     1  MARRCGPVAL LLGFGLLRLC SGVWGTDTEE RLVEHLLDPS RYNKLIRPAT NGSELVTVQL
    61  MVSLAQLISV HEREQIMTTN VWLTQEWEDY RLTWKPEEFD NMKKVRLPSK HIWLPDVVLY
   121  NNADGMYEVS FYSNAVVSYD GSIFWLPPAI YKSACKIEVK HFPFDQQNCT MKFRSWTYDR
   181  TEIDLVLKSE VASLDDFTPS GEWDIVALPG RRNENPDDST YVDITYDFII RRKPLFYTIN
   241  LIIPCVLITS LAILVFYLPS DCGEKMTLCI SVLLALTVFL LLISKIVPPT SLDVPLVGKY
   301  LMFTMVLVTF SIVTSVCVLN VHHRSPTTHT MAPWVKVVFL EKLPALLFMQ QPRHHCARQR
   361  LRLRRRQRER EGAGALFFRE APGADSCTCF VNRASVQGLA GAFGAEPAPV AGPGRSGEPC
   421  GCGLREAVDG VRFIADHMRS EDDDQSVSED WKYVAMVIDR LFLWIFVFVC VFGTIGMFLQ
   481  PLFQNYTTTT FLHSDHSAPS SK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHRNB2 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)
0.37
Highest tissue expression
14 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 14 nTPM
  • basal ganglia: 9.6 nTPM
  • hippocampal formation: 8.6 nTPM
  • cerebellum: 8.2 nTPM
  • hypothalamus: 8 nTPM
  • retina: 7.7 nTPM

Single-cell type

  • late spermatids: 23 nCPM
  • retinal horizontal cells: 14 nCPM
  • cone photoreceptor cells: 12 nCPM
  • adrenal medulla cells: 11 nCPM
  • retinal amacrine cells: 9.7 nCPM
  • brain inhibitory neurons: 9.6 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

  • cerebral cortex: 57 nTPM
  • thalamus: 45 nTPM
  • hippocampal formation: 36 nTPM
  • basal ganglia: 33 nTPM
  • white matter: 33 nTPM
  • hypothalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHRNB2.

Disease | AllUniProt

Conditions CHRNB2 is implicated in, by any mechanism.

  • Epilepsy, nocturnal frontal lobe, 3 (ENFL3) MIM:605375

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 693 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
2.1
DepMap mean gene effect
-0.09
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 CHRNB2 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 CHRNB2 as an antibody target. Whether an autoantibody or antibody against CHRNB2 could matter depends on whether native CHRNB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHRNB2 is annotated at the cell surface, where native CHRNB2 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 CHRNB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHRNB2. 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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