ADHDgene Database

Gene Report

Basic Info

Approved Symbol	BTC
Approved Name	betacellulin
Location	4q13-q21
Position	chr4:75669969-75719896, -
External Links	HGNC: 1121 Entrez Gene: 685 Ensembl: ENSG00000174808 UCSC: uc003hig.2
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: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_43	chr4:75931128-77058132 (NCBI Build 36.1 (hg18))	1076977	4q13.3-4q21.1	Gain	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005886	plasma membrane	Cellular Component		772
GO:0005615	extracellular space	Cellular Component		126
GO:0008284	positive regulation of cell proliferation	Biological Process		69
GO:0008083	growth factor activity	Molecular Function		25
GO:0043066	negative regulation of apoptotic process	Biological Process		77
GO:0016021	integral to membrane	Cellular Component		845
GO:0051781	positive regulation of cell division	Biological Process		11
GO:0005154	epidermal growth factor receptor binding	Molecular Function	TAS[8144591]	4
GO:0005576	extracellular region	Cellular Component		240

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04012	ErbB signaling pathway	21	The ErbB family of receptor tyrosine kinases (RTKs) couples ...... The ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including proliferation, differentiation, cell motility, and survival. Ligand binding to the four closely related members of this RTK family -epidermal growth factor receptor (EGFR, also known as ErbB-1 or HER1), ErbB-2 (HER2), ErbB-3 (HER3), and ErbB-4 (HER4)-induces the formation of receptor homo- and heterodimers and the activation of the intrinsic kinase domain, resulting in phosphorylation on specific tyrosine residues (pY) within the cytoplasmic tail. Signaling effectors containing binding pockets for pY-containing peptides are recruited to activated receptors and induce the various signaling pathways. The Shc- and/or Grb2-activated mitogen-activated protein kinase (MAPK) pathway is a common target downstream of all ErbB receptors. Similarly, the phosphatidylinositol-3-kinase (PI-3K) pathway is directly or indirectly activated by most ErbBs. Several cytoplasmic docking proteins appear to be recruited by specific ErbB receptors and less exploited by others. These include the adaptors Crk, Nck, the phospholipase C gamma (PLCgamma), the intracellular tyrosine kinase Src, or the Cbl E3 ubiquitin protein ligase. More...

Genes shared at least 5 GO terms with BTC (count: 9)

Gene Symbol	Pathway Count	Pathway List
EREG	6	extracellular space; positive regulation of cell proliferation; growth factor activity; positive regulation of cell division; epidermal growth factor receptor binding; extracellular region;
VEGFA	6	extracellular space; positive regulation of cell proliferation; growth factor activity; negative regulation of apoptotic process; positive regulation of cell division; extracellular region;
CTGF	5	plasma membrane; extracellular space; positive regulation of cell proliferation; growth factor activity; extracellular region;
FGF10	5	plasma membrane; extracellular space; growth factor activity; negative regulation of apoptotic process; extracellular region;
FGF9	5	extracellular space; positive regulation of cell proliferation; growth factor activity; positive regulation of cell division; extracellular region;
IGF2	5	extracellular space; positive regulation of cell proliferation; growth factor activity; positive regulation of cell division; extracellular region;
IL6	5	extracellular space; positive regulation of cell proliferation; growth factor activity; negative regulation of apoptotic process; extracellular region;
VEGFB	5	extracellular space; growth factor activity; negative regulation of apoptotic process; positive regulation of cell division; extracellular region;
FGF4	5	positive regulation of cell proliferation; growth factor activity; negative regulation of apoptotic process; positive regulation of cell division; extracellular region;

Genes shared at least 2 KEGG pathways with BTC (count: 0)

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Region: chr4:75669969..75719896 View in gBrowse