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	BMPR1B
Symbol Alias	ALK6, CDw293
Approved Name	bone morphogenetic protein receptor, type IB
Location	4q23-q24
Position	chr4:95679119-96079601, +
External Links	HGNC: 1077 Entrez Gene: 658 Ensembl: ENSG00000138696 UCSC: uc003htm.3
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Mick E, 2010	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 38)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1859156	Chr4:95834034(Fwd)	intron_variant	1(0/0/1)

LD-proxies (count: 37)

rs_ID	Location	Functional Annotation
rs6820744	Chr4:95811080(Fwd)	intron_variant
rs1541372	Chr4:95812175(Fwd)	intron_variant
rs1011959	Chr4:95809725(Fwd)	intron_variant
rs1011961	Chr4:95810540(Fwd)	intron_variant
rs17501058	Chr4:95815162(Fwd)	intron_variant
rs17429196	Chr4:95817017(Fwd)	intron_variant
rs17022471	Chr4:95812220(Fwd)	intron_variant
rs17022477	Chr4:95812743(Fwd)	intron_variant
rs6816886	Chr4:95822524(Fwd)	intron_variant
rs6849640	Chr4:95823682(Fwd)	intron_variant
rs3775009	Chr4:95821404(Fwd)	intron_variant
rs17429252	Chr4:95821655(Fwd)	intron_variant
rs2240036	Chr4:95831420(Fwd)	intron_variant
rs1444933	Chr4:95835442(Fwd)	intron_variant
rs7698986	Chr4:95825114(Fwd)	intron_variant
rs17429308	Chr4:95831071(Fwd)	intron_variant
rs11932133	Chr4:95792794(Fwd)	intron_variant
rs739729	Chr4:95804508(Fwd)	intron_variant
rs13105913	Chr4:95804237(Fwd)	intron_variant
rs3775005	Chr4:95798592(Fwd)	intron_variant
rs17022403	Chr4:95791533(Fwd)	intron_variant
rs11932660	Chr4:95838719(Fwd)	intron_variant
rs7690226	Chr4:95838109(Fwd)	intron_variant
rs13133713	Chr4:95840995(Fwd)	intron_variant
rs17022573	Chr4:95840890(Fwd)	intron_variant
rs7669822	Chr4:95841960(Fwd)	intron_variant
rs3775016	Chr4:95841925(Fwd)	intron_variant
rs10213566	Chr4:95829907(Fwd)	intron_variant
rs2044327	Chr4:95845241(Fwd)	intron_variant
rs739730	Chr4:95805242(Fwd)	intron_variant
rs972409	Chr4:95832551(Fwd)	intron_variant
rs17022547	Chr4:95832319(Fwd)	intron_variant
rs3775010	Chr4:95821419(Fwd)	intron_variant
rs3821962	Chr4:95845632(Fwd)	intron_variant
rs7661079	Chr4:95836744(Fwd)	intron_variant
rs3775028	Chr4:95855345(Fwd)	intron_variant
rs3775023	Chr4:95846962(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 26)

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

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0060041	retina development in camera-type eye	Biological Process		8
GO:0046872	metal ion binding	Molecular Function		170
GO:0031290	retinal ganglion cell axon guidance	Biological Process		3
GO:0030509	BMP signaling pathway	Biological Process	IDA[18436533]; NAS[10051328]	4
GO:0042698	ovulation cycle	Biological Process		1
GO:0035108	limb morphogenesis	Biological Process	IMP[14523231]	2
GO:0045597	positive regulation of cell differentiation	Biological Process	IMP[14523231]	4
GO:0043235	receptor complex	Cellular Component	TAS[14523231]	11
GO:0046332	SMAD binding	Molecular Function	IDA[12065756]	5
GO:0045669	positive regulation of osteoblast differentiation	Biological Process	IMP[18436533]	6
GO:0005515	protein binding	Molecular Function	IPI[18184661]	910
GO:0005524	ATP binding	Molecular Function	IDA[12065756]	228
GO:0005886	plasma membrane	Cellular Component		772
GO:0005887	integral to plasma membrane	Cellular Component	IC[14523231]	220
GO:0006468	protein phosphorylation	Biological Process	IDA[12065756]	53
GO:0006954	inflammatory response	Biological Process		51
GO:0009953	dorsal/ventral pattern formation	Biological Process		12
GO:0030501	positive regulation of bone mineralization	Biological Process	IMP[18436533]	3
GO:0001501	skeletal system development	Biological Process	IMP[14523231]	16
GO:0001502	cartilage condensation	Biological Process	NAS[14523231]	5
GO:0001550	ovarian cumulus expansion	Biological Process		2
GO:0001654	eye development	Biological Process		2
GO:0004674	protein serine/threonine kinase activity	Molecular Function	IDA[12065756]	61
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	Molecular Function	IMP[14523231]; NAS[10051328]	2
GO:0004702	receptor signaling protein serine/threonine kinase activity	Molecular Function		1
GO:0005025	transforming growth factor beta receptor activity, type I	Molecular Function		2

Gene related KEGG pathways (count: 2)

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...
hsa04060	Cytokine-cytokine receptor interaction	38	Cytokines are soluble extracellular proteins or glycoprotein...... Cytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell growth, differentiation, cell death, angiogenesis, and development and repair processes aimed at the restoration of homeostasis. Cytokines are released by various cells in the body, usually in response to an activating stimulus, and they induce responses through binding to specific receptors on the cell surface of target cells. Cytokines can be grouped by structure into different families and their receptors can likewise be grouped. More...

Genes shared at least 5 GO terms with BMPR1B (count: 14)

Gene Symbol	Pathway Count	Pathway List
TGFBR1	11	metal ion binding; receptor complex; SMAD binding; protein binding; ATP binding; plasma membrane; protein phosphorylation; skeletal system development; protein serine/threonine kinase activity; transmembrane receptor protein serine/threonine kinase activity; transforming growth factor beta receptor activity, type I;
PRKD1	8	metal ion binding; positive regulation of osteoblast differentiation; protein binding; ATP binding; plasma membrane; integral to plasma membrane; inflammatory response; protein serine/threonine kinase activity;
ROCK2	6	metal ion binding; protein binding; ATP binding; plasma membrane; protein phosphorylation; protein serine/threonine kinase activity;
ILK	6	positive regulation of osteoblast differentiation; protein binding; ATP binding; plasma membrane; protein phosphorylation; protein serine/threonine kinase activity;
LATS2	5	metal ion binding; protein binding; ATP binding; protein phosphorylation; protein serine/threonine kinase activity;
GHR	5	positive regulation of cell differentiation; receptor complex; protein binding; plasma membrane; integral to plasma membrane;
ADRB2	5	receptor complex; protein binding; plasma membrane; integral to plasma membrane; positive regulation of bone mineralization;
ERBB2	5	receptor complex; protein binding; ATP binding; plasma membrane; protein phosphorylation;
GSK3B	5	protein binding; ATP binding; plasma membrane; protein phosphorylation; protein serine/threonine kinase activity;
MARK2	5	protein binding; ATP binding; plasma membrane; protein phosphorylation; protein serine/threonine kinase activity;
PAK1	5	protein binding; ATP binding; plasma membrane; protein phosphorylation; protein serine/threonine kinase activity;
PIK3CG	5	protein binding; ATP binding; plasma membrane; inflammatory response; protein serine/threonine kinase activity;
PRKCB	5	protein binding; ATP binding; plasma membrane; protein phosphorylation; protein serine/threonine kinase activity;
RPS6KA4	5	protein binding; ATP binding; protein phosphorylation; inflammatory response; protein serine/threonine kinase activity;

Genes shared at least 2 KEGG pathways with BMPR1B (count: 1)

Gene Symbol	Pathway Count	Pathway List
TGFBR1	2	TGF-beta signaling pathway; Cytokine-cytokine receptor interaction;

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Region: chr4:95679119..96079601 View in gBrowse