CHRNB4
Neuronal acetylcholine receptor subunit beta-4
Also known as: ACHB4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P30926
- Gene
- CHRNB4
- Ensembl
- ENSG00000117971
- Chromosome
- 15
- Canonical length
- 498 aa
- Protein class
- FDA approved drug targets, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum,Cell Junctions
OverviewNCBI Gene
This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]
Canonical amino-acid sequenceUniProt
498 residues, UniProt reviewed canonical sequence.
>P30926|CHRNB4
1 MRRAPSLVLF FLVALCGRGN CRVANAEEKL MDDLLNKTRY NNLIRPATSS SQLISIKLQL
61 SLAQLISVNE REQIMTTNVW LKQEWTDYRL TWNSSRYEGV NILRIPAKRI WLPDIVLYNN
121 ADGTYEVSVY TNLIVRSNGS VLWLPPAIYK SACKIEVKYF PFDQQNCTLK FRSWTYDHTE
181 IDMVLMTPTA SMDDFTPSGE WDIVALPGRR TVNPQDPSYV DVTYDFIIKR KPLFYTINLI
241 IPCVLTTLLA ILVFYLPSDC GEKMTLCISV LLALTFFLLL ISKIVPPTSL DVPLIGKYLM
301 FTMVLVTFSI VTSVCVLNVH HRSPSTHTMA PWVKRCFLHK LPTFLFMKRP GPDSSPARAF
361 PPSKSCVTKP EATATSTSPS NFYGNSMYFV NPASAASKSP AGSTPVAIPR DFWLRSSGRF
421 RQDVQEALEG VSFIAQHMKN DDEDQSVVED WKYVAMVVDR LFLWVFMFVC VLGTVGLFLP
481 PLFQTHAASE GPYAAQRDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHRNB4 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
- 5.6 nTPM
Expression across tissuesHPA
Tissue
- testis: 5.6 nTPM
- thymus: 2.7 nTPM
- retina: 2.6 nTPM
- adrenal gland: 2.3 nTPM
- colon: 1 nTPM
- appendix: 0.6 nTPM
Single-cell type
- early spermatids: 177 nCPM
- oocytes: 152 nCPM
- late spermatids: 135 nCPM
- late primary spermatocytes: 38 nCPM
- adrenal medulla cells: 21 nCPM
- early primary spermatocytes: 11 nCPM
Immune cell
- memory B-cell: 0.3 nTPM
- naive B-cell: 0.3 nTPM
- neutrophil: 0.3 nTPM
- basophil: 0.2 nTPM
- classical monocyte: 0.1 nTPM
- eosinophil: 0.1 nTPM
Brain region
- midbrain: 5.4 nTPM
- pons: 4.9 nTPM
- medulla oblongata: 3.3 nTPM
- hypothalamus: 2.8 nTPM
- white matter: 2.7 nTPM
- cerebral cortex: 2.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHRNB4.
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 67 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)
- 0.56
- gnomAD pLI
- 0.14
- gnomAD missense Z
- 1.2
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
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
- acetylcholine receptor signaling pathway
- behavioral response to nicotine
- locomotory behavior
- membrane depolarization
- monoatomic ion transmembrane transport
- monoatomic ion transport
- neuronal action potential
- positive regulation of transmission of nerve impulse
- regulation of neurotransmitter secretion
- regulation of smooth muscle contraction
- signal transduction
- smooth muscle contraction
- synaptic transmission involved in micturition
- synaptic transmission, cholinergic
Molecular functions
- acetylcholine receptor activity
- acetylcholine-gated monoatomic cation-selective channel activity
- ligand-gated monoatomic ion channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nicotinic acetylcholine receptor
- Neurotransmitter-gated ion-channel transmembrane domain
- Neurotransmitter-gated ion-channel
- Neurotransmitter-gated ion-channel ligand-binding domain
- Neurotransmitter-gated ion-channel, conserved site
- Neurotransmitter-gated ion-channel transmembrane domain superfamily
- Neurotransmitter-gated ion-channel ligand-binding domain superfamily
- Neuronal acetylcholine receptor
- Neurotransmitter-gated ion-channel ligand binding domain
- Neurotransmitter-gated ion-channel transmembrane region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHRNB4 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 CHRNB4 as an antibody target. Whether an autoantibody or antibody against CHRNB4 could matter depends on whether native CHRNB4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHRNB4 is annotated at the cell surface, where native CHRNB4 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 CHRNB4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...