Gene Report

Basic Info
Approved Symbol NCAM1
Symbol Alias NCAM, CD56
Approved Name neural cell adhesion molecule 1
Location 11q23.2
Position chr11:112961247-113278436, 1
External Links HGNC: 7656
Entrez Gene: 4684
Ensembl: ENSG00000149294
UCSC: uc031yfl.1
No. of Studies 3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 3)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Arai, M., 2004 SNP: rs646558, rs686050
Other variant: NCAM1_IVS6+32T>C, NCAM1_2208T>G, NCAM1_2256_2257 insATGG, NCAM1_I621G>T, NCAM1_IVS0-49de IG, NCAM1_IVS4+80G>C, NCAM1_IVS7+155G>T
Three single nucleotide polymorphisms, IVS6+32T>C, IVS7+11G>C and IVS12+21C>A, displayed significant associations with bipolar disorder (for allelic associations, nominal p =.04, p =.02, and p =.004, respectively, all p >.05 after Bonferroni corrections). The haplotype located in a linkage disequilibrium block was strongly associated with bipolar disorder (the p value of the most significant three-marker haplotype is .005).. Our results suggest that genetic variations in NCAM1 or nearby genes could confer risks associated with bipolar affective disorder in Japanese individuals. Positive Comment on Study
Yosifova, A.,2009 SNP: rs646558, rs686050 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Atz, M. E., 2007 SNP: rs2303377, rs646558
Haplotype: rs646558 - rs2303377(C-T, C-(T/C), (C/A)-(T/C))
A genotypic association between bipolar disorder and rs2303377 were found. Three of the two marker haplotypes for rs646558 and rs2303377 showed varying frequencies between bipolar and controls. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 14)

GO terms by PBA (count: 5)

GO terms by database search (count: 9)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 12)

Related other genetic factors
Gene related SNPs (count: 10)

Literature-origin SNPs (count: 3)

LD-proxies (count: 7)

Gene related CNVs (count: 0)

Gene related other variants (count: 7)

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: 3)

Gene relationship with MDD

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

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

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Region: chr11:112961247..113278436 View in gBrowse
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