BMPR1B Gene

Aliases
for BMPR1B gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC04P096144 GC04P095991 GC04P096137 GC04P096036 GC04P091416

Summaries
for BMPR1B gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for BMPR1B gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000004.11  NT_016354.20  NC_018915.2  

Browse SwitchGear Promoter luciferase reporter plasmids

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BMPR1B

BMPR1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P095679:  view genomic region     (about GC identifiers)

Proteins
for BMPR1B gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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1 PDB 3D structure from and Proteopedia for BMPR1B:

3MDY (3D)    

Explore the universe of human proteins at neXtProt for BMPR1B: NX_O00238

Explore proteomics data for BMPR1B at MOPED

Post-translational modifications: 

BMPR1B Human Recombinant Protein Products:

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	antibodies-online proteins for BMPR1B (9 products)
	antibodies-online peptides for BMPR1B

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BMPR1B Assay Products:

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	antibodies-online kits for BMPR1B (20 products)

Domains /
Families
for BMPR1B gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: O00238

Find genes that share domains with BMPR1B           About GenesLikeMe

Function
for BMPR1B gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

(inferred from 2 alleles) (MGI details for Bmpr1b)

genOway: Develop your customized and physiologically relevant rodent model for BMPR1B

miRNA Products:		miRTarBase miRNAs that target BMPR1B: hsa-mir-125b-5p (MIRT000346), hsa-let-7a-5p (MIRT052538)
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		Selected qRT-PCR Assays for microRNAs that regulate BMPR1B (see all 70):
		hsa-miR-579 hsa-miR-4254 hsa-miR-300 hsa-miR-218-1* hsa-miR-200a hsa-miR-29a* hsa-miR-3148 hsa-miR-130b
		SwitchGear 3'UTR luciferase reporter plasmid: BMPR1B 3' UTR sequence

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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for BMPR1B

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		Addgene plasmids for BMPR1B

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B

Localization
for BMPR1B gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	4
cytosol	1
endoplasmic reticulum	1
extracellular	1
mitochondrion	1
nucleus	1
peroxisome	1

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for BMPR1B gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for BMPR1B About   (see top 5)   See pathways by source

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	SuperPath	Contained pathways About
1	PEDF Induced Signaling	STAT3 Pathway 0.47 Cytokine-cytokine receptor interaction 0.43
2	Signaling by BMP	Signaling by BMP 0.35 BMP signalling and regulation 0.35
3	Akt Signaling	Akt Signaling 0.60 Tec Kinases Signaling 0.55 p38 Signaling 0.60
4	Apoptosis Pathway	Apoptosis Pathway 0.45 Akt Pathway 0.39 NF-kappaB Pathway 0.45
5	Human Embryonic Stem Cell Pluripotency	Human Embryonic Stem Cell Pluripotency 0.50 Factors Promoting Cardiogenesis in Vertebrates 0.50
6	DREAM Repression and Dynorphin Expression	BMP Pathway 0.44 TOB in Osteoblast Signaling 0.00
7	Signaling by GPCR	Signal Transduction 0.58
8	PAK Pathway	Antioxidant Action of Vitamin-C 0.56
9	ERK Signaling	Molecular Mechanisms of Cancer 0.51
10	mTOR Pathway	TGF-beta Pathway 0.38
11	TGF-beta Signaling Pathway (sino)	TGF-beta Signaling Pathway
12	TGF-beta signaling pathway (KEGG)	TGF-beta signaling pathway
13	Ovarian Infertility Genes	Ovarian Infertility Genes
14	Hippo signaling pathway	Hippo signaling pathway

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BMPR1B

	STAT3 Pathway
	Factors Promoting Cardiogenesis in Vertebrates
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Tec Kinases Signaling

4 Tocris Bioscience Pathways for BMPR1B

	Akt Pathway
	Apoptosis Pathway
	TGF-beta Pathway
	NF-kappaB Pathway

2 BioSystems Pathways for BMPR1B

	BMP signalling and regulation
	Ovarian Infertility Genes

1 Sino Biological Pathway for BMPR1B

TGF-beta Signaling Pathway

1 Reactome Pathway for BMPR1B

Signaling by BMP

3 Kegg Pathways  (Kegg details for BMPR1B)

	Cytokine-cytokine receptor interaction
	TGF-beta signaling pathway
	Hippo signaling pathway

Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

Drugs & Compounds
for BMPR1B gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for BMPR1B gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for BMPR1B gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BMPR1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTCAGTAGTT

About this image

Bone (Muscoskeletal System)    fully expand to see all 10 entries
Endochondral Preosteoblasts Zeugopod Perichondrium
Zeugopod Long Bone
Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
Mesenchymal Condensate Cells Zeugopod
Limb (Muscoskeletal System)    fully expand to see all 3 entries
Mesenchymal Condensate Cells Zeugopod
Epithelial Cells
Spinous Keratinocytes Stratified Epidermis
Neural Tube (Nervous System)
Prosencephalon

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B

Orthologs
for BMPR1B gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for BMPR1B gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for BMPR1B gene

ACVR1C²  TGFBR2²  AMHR2²  ACVR2B²  ACVR2A²  TGFBR1²  ACVR1B²  BMPR1A²  

ACVR1²  BMPR2²  ACVRL1²  

10 SIMAP similar genes for BMPR1B using alignment to 3 protein entries:     BMR1B_HUMAN (see all proteins):

BMPR1A    ACVR1B    ACVRL1    TGFBR1    ACVR1C    ACVR1

ACVR2B    ACVR2A    BMPR2    TGFBR2

Find genes that share paralogs with BMPR1B           About GenesLikeMe

Genomic Variants
for BMPR1B gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for BMPR1B (see all 8252)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0414044		A metastatic melanoma sample4	--	see VAR_041404	2	D N	mis4		0	--	--	--	--
VAR_0414014		A gastric adenocarcinoma sample4	--	see VAR_041401	2	R H	mis4		0	--	--	--	--
rs289397041,2,4		Brachydactyly A2 (BDA2)4	--	see VAR_023820	2		mis4		0	--	--	--	--
rs289397031,2,4		Brachydactyly A2 (BDA2)4	--	see VAR_023819	2		mis4		0	--	--	--	--
VAR_0379674		Brachydactyly A2 (BDA2)4	--	see VAR_037967	2	R Q	mis4		0	--	--	--	--
rs3723474041,2	C	--	91421212(+)	TTTTT-/TTTTTT	1	--	int1		0	--	--	--	--
rs30672271,2	C	--	91428533(+)	TCTGTT/GTTTGT	1	--	int1		1		CSA	1
rs1998925031,2		--	91446150(+)	ATCAA-/TGTGGTA	1	--	int1		0	--	--	--	--
rs1997687321,2		--	91447892(+)	AAAAA-/ATCACTT	1	--	int1		0	--	--	--	--
rs360916541,2	C,F	--	91447893(+)	AAAAAT/-CACTT	1	--	int1		2		NA CSA	4

HapMap Linkage Disequilibrium report for BMPR1B (95679119 - 95929119 bp, first 250kb of BMPR1B)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for BMPR1B (see all 11):    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2517956	CNV	Deletion	19546169
esv2727991	CNV	Deletion	23290073
esv2727992	CNV	Deletion	23290073
esv2195551	CNV	Deletion	18987734
esv2294326	CNV	Deletion	18987734
esv2667118	CNV	Deletion	23128226
esv270403	CNV	Insertion	20981092
esv25254	CNV	Loss	19812545
nsv830011	CNV	Gain	17160897
nsv879622	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): BMPR1B

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing BMPR1B

DNA2.0 Custom Variant and Variant Library Synthesis for BMPR1B

Disorders / Diseases
for BMPR1B gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited

malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the

metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the

second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected

middle phalanx, the end of the second finger usually deviates radially. Note=The disease is caused by mutations

affecting the gene represented in this entry

8 diseases for BMPR1B:    
About MalaCards

6 Novoseek inferred disease relationships for BMPR1B gene    About this table

Publications
for BMPR1B gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (PubMed id 14523231)^{1, 2, 9} Lehmann K.... Mundlos S. (Proc. Natl. Acad. Sci. U.S.A. 2003)
2. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PubMed id 10051328)^{1, 2, 9} Astroem A.-K.... Stenman G. (Mamm. Genome 1999)
3. Cloning of human bone morphogenetic protein type IB receptor (BMPR- IB) and its expression in prostate cancer in comparison with other BMPRs. (PubMed id 9178898)^{1, 2, 9} Ide H.... Terada M. (Oncogene 1997)
4. A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits. (PubMed id 22384028)^{1, 4} Guo Y....Thomas N.G. (PLoS ONE 2012)
5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)^{1, 4} Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
6. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)^{1, 4} He C....Hunter D.J. (Hum. Genet. 2010)
7. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. (PubMed id 20732626)^{1, 4} Mick E....Faraone S.V. (J Am Acad Child Adolesc Psychiatry 2010)
8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)^{1, 4} Jugessur A....Murray J.C. (PLoS ONE 2010)
9. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)^{1, 4} Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
10. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. (PubMed id 15805157)^{1, 2} Demirhan O.... Lehmann K. (J. Med. Genet. 2005)

External Searches for BMPR1B gene

Genome Databases showing BMPR1B gene

Other Databases showing BMPR1B gene

Specialized Databases showing BMPR1B gene

Products
for BMPR1B gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section