BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Study Report

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Basic Info

Reference	Drago, A., 2016 PMID: 26551401
Citation	"Drago, A., et al. (2016). "The microtubule-associated molecular pathways may be genetically disrupted in patients with Bipolar Disorder. Insights from the molecular cascades." J Affect Disord 190: 429-438.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	molecular pathway analysis
Sample Size	3803 cases and 3470 controls
Predominant Ethnicity
Population	from the NIMH
Gender	1583 males and 2220 females for cases, 1546 males and 1924 females for controls

Detail Info

Genes reported by this study for BD (count: 16)

Gene	Statistical Values/Author Comments	Result Category
NCK2	Freq(Significant SNPs/total SNPs%)=0.21. Encodes for an adapter protein of NCK family which plays a role in ELK1-dependent transcriptional ac...... Encodes for an adapter protein of NCK family which plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. More...	Positive
CPEB1	Freq(Significant SNPs/total SNPs%)=0.38. Encodes for a sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation ...... Encodes for a sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. More...	Positive
TACC3	Freq(Significant SNPs/total SNPs%)=0.14. Encodes for a member of the transforming acidic colied-coil protein family. It is involved in the mi...... Encodes for a member of the transforming acidic colied-coil protein family. It is involved in the microtubule-dependent coupling of the nucleus and the centrosome and regulates centrosome-mediated inter kinetic nuclear migration (INM) of neural progenitors. More...	Positive
SNAI1	Freq(Significant SNPs/total SNPs%)=0.15. Encodes for a zinc finger transcriptional repressor which is involved in induction of the epithelial...... Encodes for a zinc finger transcriptional repressor which is involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. More...	Positive
RUVBL2	Freq(Significant SNPs/total SNPs%)=0.08. This gene encodes the second human homolog of the bacterial RuvB gene, a DNA helicase. Plays an esse...... This gene encodes the second human homolog of the bacterial RuvB gene, a DNA helicase. Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex. May also inhibit the transcriptional activity of ATF2. More...	Positive
PIK3R1	Freq(Significant SNPs/total SNPs%)=0.13. Encodes for a subunit of Phosphatidylinositol 3-kinase enzyme which is necessary for the insulin-sti...... Encodes for a subunit of Phosphatidylinositol 3-kinase enzyme which is necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling. More...	Positive
TPX2	Freq(Significant SNPs/total SNPs%)=0.06. Encodes form TPX2 protein that is required for normal assembly of microtubules during apoptosis. Encodes form TPX2 protein that is required for normal assembly of microtubules during apoptosis.	Positive
TDRD7	Freq(Significant SNPs/total SNPs%)=0.07. Encodes a component of cytoplasmic RNA granules which acts by binding to specific mRNAs and regulati...... Encodes a component of cytoplasmic RNA granules which acts by binding to specific mRNAs and regulating their translation. More...	Positive
DIAPH1	Freq(Significant SNPs/total SNPs%)=0.04. This gene encodes for a poteind required for the assembly of F-actin structures. May as a scaffold p...... This gene encodes for a poteind required for the assembly of F-actin structures. May as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration and it seem to have a neurite outgrowth promoting activity. More...	Positive
GRIN2B	Freq(Significant SNPs/total SNPs%)=0.05. Encodes for a subunit of the ionotropic receptor of Glutamate. It is essential for the correct funct...... Encodes for a subunit of the ionotropic receptor of Glutamate. It is essential for the correct functioning of the brain. More...	Positive
HSP90AA1	Freq(Significant SNPs/total SNPs%)=0.03. Encodes for a is stress induced molecular chaperonen that functions as homodimer. Promotes the matur...... Encodes for a is stress induced molecular chaperonen that functions as homodimer. Promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. More...	Positive
PARVG	Freq(Significant SNPs/total SNPs%)=0.03. This genes encodes for an actin-binding protein associated with focal contacts. Probably plays a rol...... This genes encodes for an actin-binding protein associated with focal contacts. Probably plays a role in the regulation of cell adhesion and cytoskeleton organization. More...	Positive
LIMS2	Freq(Significant SNPs/total SNPs%)=0.02. Encodes for member of a small family of focal adhesion proteins and is involved in the modulation of...... Encodes for member of a small family of focal adhesion proteins and is involved in the modulation of cell spreading and migration. This adapter protein links beta-integrins to the actin cytoskeleton, and bridges this cytoplasmic complex to cell surface receptor tyrosine kinases and growth factor receptors. More...	Positive
PARVB	Freq(Significant SNPs/total SNPs%)=0.02. Encodes for a member of the parvin family of actin-binding proteins, which play a role in cytoskelet...... Encodes for a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. More...	Positive
AURKB	Freq(Significant SNPs/total SNPs%)=0.02. Encodes for a member of the Aurora kinase subfamily of serine/threonine kinases. It is the catalytic...... Encodes for a member of the Aurora kinase subfamily of serine/threonine kinases. It is the catalytic component of the chromosomal passenger complex (CPC) that is critical for the correct progression through and completion of mitosis. More...	Positive
PPP2R5D	Freq(Significant SNPs/total SNPs%)=0.02. This gene encodes for one of the four major Ser/Thr phosphatases, that is implicated in the negative...... This gene encodes for one of the four major Ser/Thr phosphatases, that is implicated in the negative control of cell growth and division. More...	Positive