Identity
HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
BFNC,EBN,EBN1,NACHR,NACHRA4,NACRA4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1137
MIM: 118504
HGNC: 1958
Ensembl: ENSG00000101204
Variants:
dbSNP: 1137
ClinVar: 1137
TCGA: ENSG00000101204
COSMIC: CHRNA4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101204 | ENST00000370263 | P43681 |
| ENSG00000101204 | ENST00000498043 | H0YBH1 |
| ENSG00000101204 | ENST00000615287 | P43681 |
| ENSG00000101204 | ENST00000627000 | A0A0D9SFU6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164781343 | varenicline | Chemical | ClinicalAnnotation | associated | PD | 25774163 | |
| PA443309 | Alcoholism | Disease | ClinicalAnnotation | associated | PD | 15902904 | |
| PA445876 | Tobacco Use Disorder | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | 15790597, 19290018, 20854418, 21740768, 25774163 | |
| PA448073 | ethanol | Chemical | ClinicalAnnotation | associated | PD | 15902904 | |
| PA450626 | nicotine | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 15790597, 19290018, 20854418, 21740768, 31402126 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37451424 | 2023 | Nicotine promotes renal interstitial fibrosis via upregulation of XIAP in an alpha7-nAChR-dependent manner. | 1 |
| 37451424 | 2023 | Nicotine promotes renal interstitial fibrosis via upregulation of XIAP in an alpha7-nAChR-dependent manner. | 1 |
| 35093606 | 2022 | Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant. | 1 |
| 35093606 | 2022 | Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant. | 1 |
| 32472188 | 2021 | Concatemers to re-investigate the role of α5 in α4β2 nicotinic receptors. | 6 |
| 33657187 | 2021 | Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures. | 2 |
| 32472188 | 2021 | Concatemers to re-investigate the role of α5 in α4β2 nicotinic receptors. | 6 |
| 33657187 | 2021 | Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures. | 2 |
| 31402126 | 2020 | Association Between Nicotine-dependent Gene Polymorphism and Smoking Cessation in Patients With Lung Cancer. | 4 |
| 31821848 | 2020 | Depletion of miR-380 mitigates human bronchial epithelial cells injury to improve chronic obstructive pulmonary disease through targeting CHRNA4. | 2 |
| 32342646 | 2020 | Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine. | 3 |
| 32536355 | 2020 | Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy. | 4 |
| 31402126 | 2020 | Association Between Nicotine-dependent Gene Polymorphism and Smoking Cessation in Patients With Lung Cancer. | 4 |
| 31821848 | 2020 | Depletion of miR-380 mitigates human bronchial epithelial cells injury to improve chronic obstructive pulmonary disease through targeting CHRNA4. | 2 |
| 32342646 | 2020 | Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine. | 3 |
Citation
Dessen P
CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46560/chrna4
