CHRNA7 (cholinergic receptor nicotinic alpha 7 subunit)

2007-02-01  

Identity

HGNC
LOCATION
15q13.2
LOCUSID
ALIAS
CHRNA7-2,NACHRA7
FUSION GENES

Other Information

Locus ID:

NCBI: 1139
MIM: 118511
HGNC: 1960
Ensembl: ENSG00000175344

Variants:

dbSNP: 1139
ClinVar: 1139
TCGA: ENSG00000175344
COSMIC: CHRNA7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175344ENST00000306901P36544
ENSG00000175344ENST00000437966P36544
ENSG00000175344ENST00000454250P36544
ENSG00000175344ENST00000635722A0A1B0GVP9
ENSG00000175344ENST00000635759A0A1B0GTT0
ENSG00000175344ENST00000635883A0A1B0GVN6
ENSG00000175344ENST00000635884A0A1B0GTT9
ENSG00000175344ENST00000635978A0A1B0GW52
ENSG00000175344ENST00000636044A0A1B0GU56
ENSG00000175344ENST00000636271A0A1B0GV25
ENSG00000175344ENST00000636440A0A1B0GV44
ENSG00000175344ENST00000636603A0A1B0GVH2
ENSG00000175344ENST00000636850A0A1B0GU93
ENSG00000175344ENST00000637033A0A1B0GVH2
ENSG00000175344ENST00000637183A0A1B0GV43
ENSG00000175344ENST00000637348A0A1B0GTE0
ENSG00000175344ENST00000637350A0A1B0GU04
ENSG00000175344ENST00000637519A0A1B0GWH1
ENSG00000175344ENST00000637552A0A1B0GW47
ENSG00000175344ENST00000637786A0A1B0GU93
ENSG00000175344ENST00000637971A0A1B0GU11
ENSG00000175344ENST00000638031A0A1B0GVI5
ENSG00000175344ENST00000638081A0A1B0GUR5
ENSG00000175344ENST00000638106A0A1B0GV86

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Neuroactive ligand-receptor interactionKEGGko04080
Calcium signaling pathwayKEGGhsa04020
Neuroactive ligand-receptor interactionKEGGhsa04080
Cholinergic synapseKEGGhsa04725
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
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
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327
Highly calcium permeable postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-629594

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443319Alzheimer DiseaseDiseaseClinicalAnnotationassociatedPD24951635
PA449394donepezilChemicalClinicalAnnotationassociatedPD24951635
PA449726galantamineChemicalClinicalAnnotationassociatedPD24951635
PA450626nicotineChemicalClinicalAnnotationassociatedPD20231857
PA451262rivastigmineChemicalClinicalAnnotationassociatedPD24951635

References

Pubmed IDYearTitleCitations
183857392008A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.675
19136953200915q13.3 microdeletions increase risk of idiopathic generalized epilepsy.185
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
124701242002Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia.126
192599742009Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.121
180722792009Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA.112
181982662008No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics.111
224200482012Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.84
224231062012Prolonged disynaptic inhibition in the cortex mediated by slow, non-α7 nicotinic excitation of a specific subset of cortical interneurons.83
224200462012Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD.75

Citation

Dessen P

CHRNA7 (cholinergic receptor nicotinic alpha 7 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45735/chrna7