CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit)

2014-11-01  

Identity

HGNC
CHRNA2
LOCATION
8p21.2
LOCUSID
1135
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1135
MIM: 118502
HGNC: 1956
Ensembl: ENSG00000120903

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120903ENST00000240132Q15822
ENSG00000120903ENST00000407991Q15822
ENSG00000120903ENST00000518712E5RHQ4
ENSG00000120903ENST00000520208E5RGT4
ENSG00000120903ENST00000520933A0A0X1KG79
ENSG00000120903ENST00000521921E5RGP6
ENSG00000120903ENST00000523695E5RJ54
ENSG00000120903ENST00000524096E5RK67
ENSG00000120903ENST00000637241A0A1B0GVX5

Expression (GTEx)

0
5
10
15
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

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly calcium permeable nicotinic acetylcholine receptorsREACTOMER-HSA-629597
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-629594

References

Pubmed IDYearTitleCitations
192599742009Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.121
205842122010Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.58
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
168265242006Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.41
207369952010Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
121213052002How mutations in the nAChRs can cause ADNFLE epilepsy.34
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
254502292015The contribution of rare and common variants in 30 genes to risk nicotine dependence.25

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/chrna2