Gene Report

Basic Info
Approved Symbol CHRNA1
Previous Symbol CHRNA
Approved Name cholinergic receptor, nicotinic, alpha 1 (muscle)
Previous Name cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
Name Alias acetylcholine receptor, nicotinic, alpha 1 (muscle)
Location 2q31.1
Position chr2:174747592-174787935, -1
External Links HGNC: 1955
Entrez Gene: 1134
Ensembl: ENSG00000138435
UCSC: uc002uje.2
No. of Studies 2 (Positive: 0; Negative: 1; trend: 1)
Overlap with SZ? NO
Overlap with MDD? NO
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Georgieva, L., 2014 A de novo CNV in this gene was detected in BD. Trend Comment on Study
Shi, J., 2007 SNP: rs3755486, rs6708544, rs6732758, rs935863 no evidence of interaction among these 19 cholinergic genes was found by Allelic Association, Haploview Tests, FITF analysis and FDR correction Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 25)

GO terms by PBA (count: 4)

GO terms by database search (count: 21)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Related other genetic factors
Gene related SNPs (count: 13)

Literature-origin SNPs (count: 4)

LD-proxies (count: 9)

Gene related CNVs (count: 1)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr2:174747592..174787935 View in gBrowse
View in gBrowse