ADHDgene Database

Gene Report

Basic Info

Approved Symbol	LTBP1
Approved Name	latent transforming growth factor beta binding protein 1
Name Alias	TGF-beta1-BP-1
Location	2p22-p21
Position	chr2:33172039-33624576, +
External Links	HGNC: 6714 Entrez Gene: 4052 Ensembl: ENSG00000049323 UCSC: uc002ros.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]_5	chr2:32497032-33181898 (NCBI Build 36.1 (hg18))	684866	2p22.3	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0031012	extracellular matrix	Cellular Component		28
GO:0035583	sequestering of TGFbeta in extracellular matrix	Biological Process	TAS[18677313]	1
GO:0005578	proteinaceous extracellular matrix	Cellular Component	NAS[8537398]	47
GO:0019838	growth factor binding	Molecular Function		8
GO:0005509	calcium ion binding	Molecular Function		124
GO:0005515	protein binding	Molecular Function	IPI[18677313]	910
GO:0005024	transforming growth factor beta-activated receptor activity	Molecular Function	NAS[8537398]	2

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04350	TGF-beta signaling pathway	10	The transforming growth factor-beta (TGF-beta) family member...... The transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species ranging from worms and insects to mammals. A wide spectrum of cellular functions such as proliferation, apoptosis, differentiation and migration are regulated by TGF-beta family members. TGF-beta family member binds to the Type II receptor and recruits Type I, whereby Type II receptor phosphorylates and activates Type I. The Type I receptor, in turn, phosphorylates receptor-activated Smads ( R-Smads: Smad1, Smad2, Smad3, Smad5, and Smad8). Once phosphorylated, R-Smads associate with the co-mediator Smad, Smad4, and the heteromeric complex then translocates into the nucleus. In the nucleus, Smad complexes activate specific genes through cooperative interactions with other DNA-binding and coactivator (or co-repressor) proteins. More...

Genes shared at least 5 GO terms with LTBP1 (count: 0)

Genes shared at least 2 KEGG pathways with LTBP1 (count: 0)

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Region: chr2:33172039..33624576 View in gBrowse