ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	GP1BB
Symbol Alias	CD42c
Approved Name	glycoprotein Ib (platelet), beta polypeptide
Location	22q11.21-q11.23
Position	chr22:19710468-19712297, +
External Links	HGNC: 4440 Entrez Gene: 2812 Ensembl: ENSG00000203618 UCSC: uc002zpz.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_41	chr22:17616020-19792353 (NCBI36 / hg18)	2176334	22q11.21	dup
CNV_Jarick[2012]_40	chr22:17257787-19792353 (NCBI36 / hg18)	2534567	22q11.21	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 9)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0030168	platelet activation	Biological Process	NAS[12871509]	38
GO:0005886	plasma membrane	Cellular Component		772
GO:0005887	integral to plasma membrane	Cellular Component	NAS[3353370]	220
GO:0004888	transmembrane signaling receptor activity	Molecular Function	NAS[3353370]	20
GO:0005515	protein binding	Molecular Function	IPI[4044584]	910
GO:0007596	blood coagulation	Biological Process		83
GO:0007597	blood coagulation, intrinsic pathway	Biological Process		4
GO:0007155	cell adhesion	Biological Process		86
GO:0007166	cell surface receptor signaling pathway	Biological Process	NAS[3353370]	35

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04640	Hematopoietic cell lineage	13	Blood-cell development progresses from a hematopoietic stem ...... Blood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid progenitor (CLP) or a common myeloid progenitor (CMP). A CLP gives rise to the lymphoid lineage of white blood cells or leukocytes-the natural killer (NK) cells and the T and B lymphocytes. A CMP gives rise to the myeloid lineage, which comprises the rest of the leukocytes, the erythrocytes (red blood cells), and the megakaryocytes that produce platelets important in blood clotting. Cells undergoing these differentiation process express a stage- and lineage-specific set of surface markers. Therefore cellular stages are identified by the specific expression patterns of these genes. More...
hsa04512	ECM-receptor interaction	13	The extracellular matrix (ECM) consists of a complex mixture...... The extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell and tissue structure and function. Specific interactions between cells and the ECM are mediated by transmembrane molecules, mainly integrins and perhaps also proteoglycans, CD36, or other cell-surface-associated components. These interactions lead to a direct or indirect control of cellular activities such as adhesion, migration, differentiation, proliferation, and apoptosis. In addition, integrins function as mechanoreceptors and provide a force-transmitting physical link between the ECM and the cytoskeleton. Integrins are a family of glycosylated, heterodimeric transmembrane adhesion receptors that consist of noncovalently bound alpha- and beta-subunits. More...

Genes shared at least 5 GO terms with GP1BB (count: 8)

Gene Symbol	Pathway Count	Pathway List
ADRA2A	5	platelet activation; plasma membrane; integral to plasma membrane; protein binding; blood coagulation;
ADRA2B	5	platelet activation; plasma membrane; integral to plasma membrane; protein binding; blood coagulation;
ADRA2C	5	platelet activation; plasma membrane; integral to plasma membrane; protein binding; blood coagulation;
BCAR1	5	platelet activation; plasma membrane; protein binding; blood coagulation; cell adhesion;
F2RL2	5	platelet activation; plasma membrane; integral to plasma membrane; protein binding; blood coagulation;
TRPC3	5	platelet activation; plasma membrane; integral to plasma membrane; protein binding; blood coagulation;
SEMA4D	5	plasma membrane; integral to plasma membrane; transmembrane signaling receptor activity; protein binding; cell adhesion;
SPN	5	plasma membrane; integral to plasma membrane; transmembrane signaling receptor activity; blood coagulation; cell surface receptor signaling pathway;

Genes shared at least 2 KEGG pathways with GP1BB (count: 2)

Gene Symbol	Pathway Count	Pathway List
ITGA1	2	Hematopoietic cell lineage; ECM-receptor interaction;
ITGA2	2	Hematopoietic cell lineage; ECM-receptor interaction;

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Region: chr22:19710468..19712297 View in gBrowse