CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit)

2014-11-01 Affiliation

Identity

HGNC

CHRNA2

LOCATION

8p21.2

LOCUSID

1135

ALIAS

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: 1135
MIM: 118502
HGNC: 1956
Ensembl: ENSG00000120903

Variants:

dbSNP: 1135
ClinVar: 1135
TCGA: ENSG00000120903
COSMIC: CHRNA2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000120903	ENST00000240132	Q15822
ENSG00000120903	ENST00000407991	Q15822
ENSG00000120903	ENST00000518712	E5RHQ4
ENSG00000120903	ENST00000520208	E5RGT4
ENSG00000120903	ENST00000520933	A0A0X1KG79
ENSG00000120903	ENST00000521921	E5RGP6
ENSG00000120903	ENST00000523695	E5RJ54
ENSG00000120903	ENST00000524096	E5RK67
ENSG00000120903	ENST00000637241	A0A1B0GVX5

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
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
Postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	REACTOME	R-HSA-629594

References

Pubmed ID	Year	Title	Citations
31209380	2019	Genome-wide association study implicates CHRNA2 in cannabis use disorder.	60
31209380	2019	Genome-wide association study implicates CHRNA2 in cannabis use disorder.	60
29688589	2018	Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.	0
29785025	2018	An immune-beige adipocyte communication via nicotinic acetylcholine receptor signaling.	43
29688589	2018	Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.	0
29785025	2018	An immune-beige adipocyte communication via nicotinic acetylcholine receptor signaling.	43
27493220	2016	Crystal structure of a human neuronal nAChR extracellular domain in pentameric assembly: Ligand-bound α2 homopentamer.	26
27493220	2016	Crystal structure of a human neuronal nAChR extracellular domain in pentameric assembly: Ligand-bound α2 homopentamer.	26
25450229	2015	The contribution of rare and common variants in 30 genes to risk nicotine dependence.	0
25770198	2015	Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.	13
25847220	2015	Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.	9
25450229	2015	The contribution of rare and common variants in 30 genes to risk nicotine dependence.	0
25770198	2015	Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.	13
25847220	2015	Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.	9
23943838	2014	Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.	16

Citation

Dessen P

CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61815