Gene Report

Basic Info
Approved Symbol ANK3
Approved Name ankyrin 3, node of Ranvier (ankyrin G)
Name Alias ankyrin-3, node of Ranvier, "ankyrin-G"
Location 10q21
Position chr10:60026298-60733490, -1
External Links HGNC: 494
Entrez Gene: 288
Ensembl: ENSG00000151150
UCSC: uc001jky.3
No. of Studies 17 (Positive: 13; Negative: 3; trend: 1)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 17)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Fiorentino A., 2014 SNP: rs78682113, rs114693358, rs72816484, rs11816586, rs12257876, rs1050745, rs79598579, rs190133850, rs12265962, rs7078873, rs74155257, rs8677, rs187326819, rs1802665, rs199763470, rs80034950, rs1049862, rs188594839, rs181062313, rs149282429, rs141939315, rs139092048, rs147527383, rs61845768, rs140183285, rs10821668, rs28932171, rs41274672, rs11599164, rs139972937, rs148904927, rs117475706, rs2393595, rs6479694, rs16914794, rs181454508, rs117421224, rs41283526, rs34796699, rs77622274, rs1551684, rs1551683, rs139578151, rs7903279, rs1442547, rs1442548, rs74659950, rs151007800, rs112339619, rs184389434, rs1904397, rs1904398, rs144130033
Other variant: ANK3_Chr10:61786761 _A/G, ANK3_Chr10:61787065 _TA/-, ANK3_Chr10:61788626 _G/T, ANK3_Chr10:61789498 _AC/-, ANK3_Chr10:61789512 _C/-, ANK3_Chr10:61789556 _C/-, ANK3_Chr10:61819783 _T/G, ANK3_Chr10:61841574 _T/-, ANK3_Chr10:61843365 _C/G, ANK3_Chr10:61900256 _G/A, ANK3_Chr10:61900727 _G/C, ANK3_Chr10:61900857 _G/A, ANK3_Chr10:61901317 _-/TG, ANK3_Chr10:61901321 _T/G, ANK3_Chr10:61941143 _C/G, ANK3_Chr10:61958307 _G/T, ANK3_Chr10:62149642 _C/T, ANK3_Chr10:62150190 _G/A, ANK3_Chr10:62332894 _-/A, ANK3_Chr10:62332895 _A/AA, ANK3_Chr10:62332985 _T/-, ANK3_Chr10:62333120 _ACCAACCA/-, ANK3_Chr10:62493812 _G/C, ANK3_Chr10:62494029 _A/G, ANK3_Chr10:62494113 _C/T, ANK3_Chr10:62494201 _CT/CTATATTAT, rs3045444
Genetic markers in the genes encoding ankyrin 3 (ANK3) is associated with bipolar disorder (BP). Positive Comment on Study
Gonzalez SD, 2013 SNP: rs1380455, rs16914968, rs1551684, rs3808942, rs3808943, rs10994336
Haplotype: rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336 (T-C-C-T-T-T ), rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336 (G-C-C-T-C-C ), rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336 (T-C-C-C-C-C ), rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336 (T-C-T-T-C-C ), rs1380455 - rs16914968 - rs1551684 - rs3808942 - rs3808943 - rs10994336 (T-T-C-T-C-C )
These results provide additional evidence that ANK3 is associated with BP and provide the first evidence that variations in this gene might have a role in the pathogenesis of this disorder in the Latino population. Positive Comment on Study
Kondo, K.,2013 SNP: rs10994336 No significant association was observed. Negative Comment on Study
Dedman, A.,2012 SNP: rs10821668, rs10821792, rs10994285, rs10994336, rs10994397, rs11599164, rs139092048, rs142415903, rs185539081, rs1938526, rs2018783, rs28932171, rs41274672, rs61845768 Four SNPs were found to be nominally associated with bipolar disorder in UCL1.But ANK3 association with bipolar disorder was not detected in the UCL2 replication cohort and this indicates that there is heterogeneity for bipolar disorder susceptibility genes even within a single ancestrally selected group of cases and controls. Positive Comment on Study
Green, E. K.,2012 SNP: rs10994397 BD ImmunoChip:P-value = 0.923,OR = 1.01;ImmunoChip, PGC-BD combined data:P-balue = 0.00000215,OR = 0.842 Suggestive association was found. Trend Comment on Study
Doyle, G. A., 2012 Other variant: ANK3_exon 48_P1489S, ANK3_exon 48_T1861M, ANK3_exon 48_E1926D, ANK3_exon 48_S2043N, ANK3_exon 48_I2158T, ANK3_exon 48_D2319N, ANK3_exon 48_F2375V, ANK3_exon 48_S2409P, ANK3_exon 48_N2643S, ANK3_exon 48_R2719T, ANK3_exon 48_G2845E, ANK3_exon 48_S2858L, ANK3_exon 48_Q3264K, ANK3_exon 48_S3521G, ANK3_exon 48_E3563G, ANK3_exon 48_S3697C, ANK3_exon 48_N3789S, ANK3_exon 48_K3942R We found no statistically significant association of any of the rare variants detected with BPD-I. Conclusions: Thus, we conclude that rare variants within the re-sequenced structural domains of ANK3 exon 48 do not contribute to BPD-I. Negative Comment on Study
Cross-Disorder Group of the Psychiatric Genomics Consortium,2013 SNP: rs10994397 Significant association was observed in BPD. Positive Comment on Study
Muhleisen, T. W., 2014 SNP: rs10994415, rs10994397, rs1938540, rs10821745, rs10821736, rs10994430, rs10994336, rs10994308, rs10509129 The most significant association signal and the largest number of genome-wide significant SNPs (n=26) were identified in ANK3 (ankyrin 3) on chromosome 10q21.2 rs10994415-C, PGC=6.88E-11,OR=1.27). Positive Comment on Study
Lim C.H., 2014 SNP: rs1938526, rs10994336 Following stratification by ethnicity, variants of the ANK3 gene (rs1938526 and rs10994336) were found to be associated with BPD in Malays (P-value=0.001 and0.006, respectively). Positive Comment on Study
Sklar, P.,2011 SNP: rs10994397, rs9804190 Significant association was found. Positive Comment on Study
Liu, Y.,2011 SNP: rs10994336, rs10994338 Significant associations were found in rs10994336 and rs10994338. Positive Comment on Study
Gella, A.,2011 SNP: rs10761482, rs10994336, rs9804190 Our results support a specific genetic contribution of ANK3 to bipolar disorder though we failed to replicate findings for schizophrenia. Positive Comment on Study
Schulze, T. G.,2009 SNP: rs10994336, rs9804190 Our findings strongly support ANK3 as a BD susceptibility gene and suggest true allelic heterogeneity. Positive Comment on Study
Chen, D. T.,2011 SNP: rs4948418 Supportive evidence for prior association findings near ANK3 was also observed. Positive Comment on Study
Lett, T. A.,2011 SNP: rs10994336, rs9804190 No significant association was observed in ANK3 gene for BPD. Negative Comment on Study
Tesli, M.,2011 SNP: rs10994336, rs1938526, rs9804190 These results further support that ANK3 is a susceptibility gene specific to BD and that more than one risk locus is involved. Positive Comment on Study
Takata, A.,2011(b) SNP: rs10994336, rs1938526 We detected a nominal association between rs1938526 in ANK3 and BD. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 55)

GO terms by PBA (count: 7)

GO terms by database search (count: 48)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Related other genetic factors
Gene related SNPs (count: 168)

Literature-origin SNPs (count: 79)

LD-proxies (count: 89)

Gene related CNVs (count: 0)

Gene related other variants (count: 45)

Gene related regions (count: 6)

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

Overlap with SZ from cross-disorder studies (count: 5)

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

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr10:60026298..60733490 View in gBrowse
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