Gene Report

Basic Info
Approved Symbol DTNBP1
Symbol Alias Dysbindin, My031, HPS7, DBND, BLOC1S8
Approved Name dystrobrevin binding protein 1
Name Alias dysbindin-1, "biogenesis of lysosomal organelles complex-1, subunit 8"
Location 6p22.3
Position chr6:15522801-15663058, -1
External Links HGNC: 17328
Entrez Gene: 84062
Ensembl: ENSG00000047579
UCSC: uc003nbm.3
No. of Studies 8 (Positive: 4; Negative: 3; trend: 1)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 8)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Yosifova, A.,2009 SNP: rs760761 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Gaysina, D.,2009 SNP: rs1011313, rs16876571, rs17470454, rs2619522, rs2619539, rs2743852, rs3213207, rs760761
Haplotype: rs1011313 - rs760761 - rs2743852(), rs16876571 - rs2619539 - rs3213207(), rs16876571 - rs2619539 - rs3213207 - rs760761(), rs17470454 - rs16876571 - rs2619539(), rs2619539 - rs3213207 - rs1011313(), rs3213207 - rs1011313 - rs760761()
In conclusion, our results are consistent with previous studies in term of a general association between the DTNBP1 and bipolar disorder. Positive Comment on Study
Perlis, 2008 SNP: rs1000117, rs1011313, rs1997679, rs760666, rs9296983 permuted P> .005 in gene-based association tests. Negative Comment on Study
Breen, G., 2006 SNP: rs1011313, rs1018381, rs2005976, rs2619522, rs2619528, rs2619539, rs3213207, rs760666, rs760761, rs909706
Haplotype: rs2619522 - rs760761 - rs2005976(T-C-G), rs2619522 - rs760761 - rs2005976(G-T-A), rs2619522 - rs760761 - rs2005976 - rs2619528(T-C-G-G), rs2619522 - rs760761 - rs2005976 - rs2619528(G-T-A-A), rs2619522 - rs760761 - rs2619528(T-C-G), rs2619522 - rs760761 - rs2619528(G-T-A), rs760761 - rs2005976 - rs2619528(C-G-G), rs760761 - rs2005976 - rs2619528(T-A-A)
Two polymorphisms showed individual genotypic association with bipolar I disorder. Multiple marker haplotypes were more strongly associated, with the rarer of the two common haplotypes being overrepresented in the patients with bipolar affective disorder. Positive Comment on Study
Raybould, R.,2005 SNP: rs2619538, rs2619539, rs3213207
Haplotype: rs2619539 - rs3213207 - rs2619538()
Our data suggest that variation at the polymorphisms examined does not make a major contribution to susceptibility to bipolar disorder in general. They are consistent with the possibility that DTNBP1 influences susceptibility to a subset of bipolar disorder cases with psychosis. Negative Comment on Study
Fallin, M. D.,2005 16 SNP typed, Median D'=1, Median r<sup>2</sup> =0.05, 4 LD blocks, 0.59 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in SZ/SZA and BP.. This gene is suggestive to BP and SZ/SZA. Trend Comment on Study
Pae, C. U., 2007 (a) SNP: rs1011313, rs2005976, rs2619522, rs3213207, rs760761
Haplotype: rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-G-C-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-T-G-C-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-A-T-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-A-C-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-G-T-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-A-C-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-G-T-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(G-C-A-T-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-G-C-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-T-A-C-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-T-G-T-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-C-A-T-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(G-C-A-C-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(G-C-G-T-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-T-G-C-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(G-T-A-C-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(G-C-G-C-C), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(G-C-A-T-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(G-T-G-C-A), rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522(A-T-A-C-C)
The study suggests that putative variations at DTNBP1 act against susceptibility to BID Positive Comment on Study
Joo, E. J., 2007 SNP: rs2619522, rs2619538, rs760761
Haplotype: rs2619522 - rs760761(), rs2619538 - rs2619522(), rs2619538 - rs2619522 - rs760761()
The results suggest that DTNBP1 may contribute more to bipolar I disorder than bipolar II disorder or schizoaffective disorder Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 32)

GO terms by PBA (count: 3)

GO terms by database search (count: 29)

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: 117)

Literature-origin SNPs (count: 17)

LD-proxies (count: 100)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

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: 40)

Gene relationship with MDD

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

Overlap with MDD from candidate gene intersection analysis (count: 2)

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Region: chr6:15522801..15663058 View in gBrowse
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