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	chr4:95679119-96079599, 1
External Links	HGNC: 1077 Entrez Gene: 658 Ensembl: ENSG00000138696 UCSC: uc031sgn.1
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; 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
rs17022403	chr4:95791533(Fwd)	intron_variant
rs11932133	chr4:95792794(Fwd)	intron_variant
rs3775005	chr4:95798592(Fwd)	intron_variant
rs13105913	chr4:95804237(Fwd)	intron_variant
rs739729	chr4:95804508(Fwd)	intron_variant
rs1011959	chr4:95809725(Fwd)	intron_variant
rs1011961	chr4:95810540(Fwd)	intron_variant
rs6820744	chr4:95811080(Fwd)	intron_variant
rs1541372	chr4:95812175(Fwd)	intron_variant
rs17022471	chr4:95812220(Fwd)	intron_variant
rs17022477	chr4:95812743(Fwd)	intron_variant
rs17501058	chr4:95815162(Fwd)	intron_variant
rs3775028	chr4:95855345(Fwd)	intron_variant
rs7661079	chr4:95836744(Fwd)	intron_variant
rs17022547	chr4:95832319(Fwd)	intron_variant
rs3775023	chr4:95846962(Fwd)	intron_variant
rs3821962	chr4:95845632(Fwd)	intron_variant
rs972409	chr4:95832551(Fwd)	intron_variant
rs10213566	chr4:95829907(Fwd)	intron_variant
rs3775010	chr4:95821419(Fwd)	intron_variant
rs739730	chr4:95805242(Fwd)	intron_variant
rs13133713	chr4:95840995(Fwd)	intron_variant
rs3775016	chr4:95841925(Fwd)	intron_variant
rs7669822	chr4:95841960(Fwd)	intron_variant
rs2044327	chr4:95845241(Fwd)	intron_variant
rs1444933	chr4:95835442(Fwd)	intron_variant
rs7690226	chr4:95838109(Fwd)	intron_variant
rs11932660	chr4:95838719(Fwd)	intron_variant
rs17022573	chr4:95840890(Fwd)	intron_variant
rs6849640	chr4:95823682(Fwd)	intron_variant
rs7698986	chr4:95825114(Fwd)	intron_variant
rs17429308	chr4:95831071(Fwd)	intron_variant
rs2240036	chr4:95831420(Fwd)	intron_variant
rs17429196	chr4:95817017(Fwd)	intron_variant
rs3775009	chr4:95821404(Fwd)	intron_variant
rs17429252	chr4:95821655(Fwd)	intron_variant
rs6816886	chr4:95822524(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:0046332	SMAD binding	molecular function	IDA[12065756]	9
GO:0001502	cartilage condensation	biological process	NAS[14523231]	5
GO:0004702	receptor signaling protein serine/threonine kinase activity	molecular function	IEA	1
GO:0060041	retina development in camera-type eye	biological process	IEA	9
GO:0005886	plasma membrane	cellular component	TAS	839
GO:0001501	skeletal system development	biological process	IMP[14523231]	17
GO:0004674	protein serine/threonine kinase activity	molecular function	IDA[12065756]	65
GO:0030501	positive regulation of bone mineralization	biological process	IMP[18436533]	3
GO:0006954	inflammatory response	biological process	IEA	54
GO:0005887	integral to plasma membrane	cellular component	IC[14523231]	236
GO:0005524	ATP binding	molecular function	IDA[12065756]	265
GO:0005515	protein binding	molecular function	IPI[18184661]	1015
GO:0045669	positive regulation of osteoblast differentiation	biological process	IMP[18436533]	7
GO:0006468	protein phosphorylation	biological process	IDA[12065756]	58
GO:0035108	limb morphogenesis	biological process	IMP[14523231]	2
GO:0046872	metal ion binding	molecular function	IEA	200
GO:0009953	dorsal/ventral pattern formation	biological process	IEA	12
GO:0045597	positive regulation of cell differentiation	biological process	IMP[14523231]	4
GO:0005025	transforming growth factor beta receptor activity, type I	molecular function	IEA	2
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	molecular function	IMP[14523231]; NAS[10051328]	2
GO:0043235	receptor complex	cellular component	TAS[14523231]	11
GO:0030509	BMP signaling pathway	biological process	IDA[18436533]; NAS[10051328]; TAS	4
GO:0031290	retinal ganglion cell axon guidance	biological process	IEA	3
GO:0001654	eye development	biological process	ISS	2
GO:0001550	ovarian cumulus expansion	biological process	ISS	2
GO:0042698	ovulation cycle	biological process	ISS	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04060	Cytokine-cytokine receptor interaction	39
hsa04350	TGF-beta signaling pathway	11

Genes shared at least 5 GO terms with BMPR1B (count: 15)

Gene Symbol	Pathway Count	Pathway List
TGFBR1	11	SMAD binding; plasma membrane; skeletal system development; protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation; metal ion binding; transforming growth factor beta receptor activity, type I; transmembrane receptor protein serine/threonine kinase activity; receptor complex;
PRKD1	8	plasma membrane; protein serine/threonine kinase activity; inflammatory response; integral to plasma membrane; ATP binding; protein binding; positive regulation of osteoblast differentiation; metal ion binding;
ROCK2	6	plasma membrane; protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation; metal ion binding;
ILK	6	plasma membrane; protein serine/threonine kinase activity; ATP binding; protein binding; positive regulation of osteoblast differentiation; protein phosphorylation;
ADRB2	5	plasma membrane; positive regulation of bone mineralization; integral to plasma membrane; protein binding; receptor complex;
PDPK1	5	plasma membrane; protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation;
ERBB2	5	plasma membrane; ATP binding; protein binding; protein phosphorylation; receptor complex;
PAK1	5	plasma membrane; protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation;
GSK3B	5	plasma membrane; protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation;
MARK2	5	plasma membrane; protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation;
GHR	5	plasma membrane; integral to plasma membrane; protein binding; positive regulation of cell differentiation; receptor complex;
PIK3CG	5	plasma membrane; protein serine/threonine kinase activity; inflammatory response; ATP binding; protein binding;
TNNI3K	5	protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation; metal ion binding;
LATS2	5	protein serine/threonine kinase activity; ATP binding; protein binding; protein phosphorylation; metal ion binding;
RPS6KA4	5	protein serine/threonine kinase activity; inflammatory response; ATP binding; protein binding; protein phosphorylation;

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

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

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Region: chr4:95679119..96079599 View in gBrowse