Gene Report

Basic Info
Approved Symbol CHRNA5
Approved Name cholinergic receptor, nicotinic, alpha 5 (neuronal)
Previous Name cholinergic receptor, nicotinic, alpha polypeptide 5
Name Alias acetylcholine receptor, nicotinic, alpha 5 (neuronal)
Location 15q24
Position chr15:78565520-78595269, 1
External Links HGNC: 1959
Entrez Gene: 1138
Ensembl: ENSG00000169684
UCSC: uc002bdy.3
No. of Studies 3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 3)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Hartz, S. M.,2011 SNP: rs16969968, rs637137, rs684513 No significant associations were detected in BD patients. Negative Comment on Study
Shi, J., 2007 SNP: rs2036527, rs4275821, rs514743, rs615470, rs680244, rs684513, rs951266 rs514743 showed nominally significant transmission bias; no evidence of interaction among these 19 cholinergic genes by FITF analysis and FDR correction was found Positive Comment on Study
Jackson, K. J., 2013 SNP: rs951266, rs16969968 Variants in the 15q25 gene cluster are associated with risk for schizophrenia/bipolar illness, negative symptoms of schizophrenia, and influence CHRNA5 expression in the brain and peripheral blood mononuclear cells. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 14)

GO terms by PBA (count: 4)

GO terms by database search (count: 10)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Related other genetic factors
Gene related SNPs (count: 30)

Literature-origin SNPs (count: 10)

LD-proxies (count: 20)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

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

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Gene relationship with MDD

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Region: chr15:78565520..78595269 View in gBrowse
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