CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)

2007-02-01 Affiliation

Identity

HGNC

CHRNA4

LOCATION

20q13.33

LOCUSID

1137

ALIAS

BFNC,EBN,EBN1,NACHR,NACHRA4,NACRA4

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Cholinergic synapse	KEGG	hsa04725
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Acetylcholine Binding And Downstream Events	REACTOME	R-HSA-181431
Activation of Nicotinic Acetylcholine Receptors	REACTOME	R-HSA-629602
Presynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622323
Highly calcium permeable nicotinic acetylcholine receptors	REACTOME	R-HSA-629597
Highly sodium permeable acetylcholine nicotinic receptors	REACTOME	R-HSA-629587
Postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-629594

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	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/gene-explorer/tumors-explorer/