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	LRP5
Previous Symbol	LRP7, OPPG, EVR1
Symbol Alias	LR3, BMND1, HBM, OPS
Approved Name	low density lipoprotein receptor-related protein 5
Previous Name	osteoporosis pseudoglioma syndrome, "exudative vitreoretinopathy 1"
Location	11q13.4
Position	chr11:68080077-68216743, +
External Links	HGNC: 6697 Entrez Gene: 4041 Ensembl: ENSG00000162337 UCSC: uc001ont.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_41	chr11:67841909-69060612 (NCBI Build 36.1 (hg18))	1167044	11q13.2	Gain

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 39)

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

GO terms by database search (count: 39)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0045840	positive regulation of mitosis	Biological Process	IDA[9790987]	7
GO:0045668	negative regulation of osteoblast differentiation	Biological Process	IMP[17680723]	6
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[12857724]	131
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process	IDA[17955262]	80
GO:0043235	receptor complex	Cellular Component	IDA[18762581]	11
GO:0042813	Wnt-activated receptor activity	Molecular Function		2
GO:0045600	positive regulation of fat cell differentiation	Biological Process	IMP[17680723]	4
GO:0044332	Wnt receptor signaling pathway involved in dorsal/ventral axis specification	Biological Process	IDA[11029007]	1
GO:0060070	canonical Wnt receptor signaling pathway	Biological Process	IDA[15035989]; IMP[19673927]	13
GO:0060059	embryonic retina morphogenesis in camera-type eye	Biological Process		3
GO:0060444	branching involved in mammary gland duct morphogenesis	Biological Process		1
GO:0060349	bone morphogenesis	Biological Process		4
GO:0048539	bone marrow development	Biological Process	IMP[17680723]	1
GO:0046849	bone remodeling	Biological Process		6
GO:0060042	retina morphogenesis in camera-type eye	Biological Process	IMP[15346351]	1
GO:0048596	embryonic camera-type eye morphogenesis	Biological Process		3
GO:0006007	glucose catabolic process	Biological Process	IMP[19673927]	2
GO:0006897	endocytosis	Biological Process		23
GO:0008217	regulation of blood pressure	Biological Process	IMP[18721193]	8
GO:0008284	positive regulation of cell proliferation	Biological Process	IDA[9790987]	69
GO:0002076	osteoblast development	Biological Process		4
GO:0005515	protein binding	Molecular Function	IPI[15908424]	910
GO:0005783	endoplasmic reticulum	Cellular Component		100
GO:0005886	plasma membrane	Cellular Component	IDA[17680723]	772
GO:0017147	Wnt-protein binding	Molecular Function		3
GO:0019534	toxin transporter activity	Molecular Function	IMP[18350154]	1
GO:0030326	embryonic limb morphogenesis	Biological Process		8
GO:0042632	cholesterol homeostasis	Biological Process	IMP[18721193]	18
GO:0009952	anterior/posterior pattern specification	Biological Process		26
GO:0015026	coreceptor activity	Molecular Function		4
GO:0016021	integral to membrane	Cellular Component		845
GO:0016055	Wnt receptor signaling pathway	Biological Process	IDA[17955262]	20
GO:0002053	positive regulation of mesenchymal cell proliferation	Biological Process	IMP[17680723]	9
GO:0001702	gastrulation with mouth forming second	Biological Process		5
GO:0061304	retinal blood vessel morphogenesis	Biological Process	IMP[15024691]	2
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	Biological Process		3
GO:0060828	regulation of canonical Wnt receptor signaling pathway	Biological Process	IMP[18044981]	1
GO:0060612	adipose tissue development	Biological Process	IMP[17680723]	7
GO:0071901	negative regulation of protein serine/threonine kinase activity	Biological Process	IMP[19107203]	3

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04310	Wnt signaling pathway	22	Wnt proteins are secreted morphogens that are required for b...... Wnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, in many different species and organs. There are at least three different Wnt pathways: the canonical pathway, the planar cell polarity (PCP) pathway and the Wnt/Ca2+ pathway. In the canonical Wnt pathway, the major effect of Wnt ligand binding to its receptor is the stabilization of cytoplasmic beta-catenin through inhibition of the bea-catenin degradation complex. Beta-catenin is then free to enter the nucleus and activate Wnt-regulated genes through its interaction with TCF (T-cell factor) family transcription factors and concomitant recruitment of coactivators. Planar cell polarity (PCP) signaling leads to the activation of the small GTPases RHOA (RAS homologue gene-family member A) and RAC1, which activate the stress kinase JNK (Jun N-terminal kinase) and ROCK (RHO-associated coiled-coil-containing protein kinase 1) and leads to remodelling of the cytoskeleton and changes in cell adhesion and motility. WNT-Ca2+ signalling is mediated through G proteins and phospholipases and leads to transient increases in cytoplasmic free calcium that subsequently activate the kinase PKC (protein kinase C) and CAMKII (calcium calmodulin mediated kinase II) and the phosphatase calcineurin. More...

Genes shared at least 5 GO terms with LRP5 (count: 10)

Gene Symbol	Pathway Count	Pathway List
FZD4	8	positive regulation of transcription, DNA-dependent; Wnt-activated receptor activity; canonical Wnt receptor signaling pathway; protein binding; plasma membrane; Wnt-protein binding; Wnt receptor signaling pathway; retinal blood vessel morphogenesis;
CDON	6	positive regulation of transcription from RNA polymerase II promoter; embryonic retina morphogenesis in camera-type eye; protein binding; plasma membrane; anterior/posterior pattern specification; integral to membrane;
TGFBR1	6	positive regulation of transcription, DNA-dependent; receptor complex; positive regulation of cell proliferation; protein binding; plasma membrane; anterior/posterior pattern specification;
DRD3	5	positive regulation of mitosis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; protein binding; plasma membrane;
ID2	5	negative regulation of osteoblast differentiation; positive regulation of transcription, DNA-dependent; positive regulation of fat cell differentiation; protein binding; adipose tissue development;
PTCH1	5	negative regulation of osteoblast differentiation; protein binding; plasma membrane; embryonic limb morphogenesis; integral to membrane;
TBX1	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; anterior/posterior pattern specification; positive regulation of mesenchymal cell proliferation;
GHR	5	receptor complex; endocytosis; protein binding; plasma membrane; integral to membrane;
CAV3	5	endocytosis; positive regulation of cell proliferation; protein binding; plasma membrane; cholesterol homeostasis;
NPC1	5	endocytosis; protein binding; endoplasmic reticulum; cholesterol homeostasis; integral to membrane;

Genes shared at least 2 KEGG pathways with LRP5 (count: 0)

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Region: chr11:68080077..68216743 View in gBrowse