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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BMPR1B Gene

protein-coding GIFtS: 73
GCID: GC04P095679

Bone Morphogenetic Protein Receptor, Type IB

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Bone Morphogenetic Protein Receptor, Type IB¹ ²		CDw293²
BMPR-1B² ³		Activin Receptor-Like Kinase 6²
BMP Type-1B Receptor² ³		Bone Morphogenetic Protein Receptor Type-1B²
EC 2.7.11.30³ ⁸		Serine/Threonine Receptor Kinase²
ALK6² ⁵		CDw293 Antigen³
ALK-6²		EC 2.7.11⁸

External Ids:	HGNC: 1077¹	Entrez Gene: 658²	Ensembl: ENSG00000138696⁷	OMIM: 603248⁵	UniProtKB: O00238³

Export aliases for BMPR1B gene to outside databases

Previous GC identifers: GC04P096144 GC04P095991 GC04P096137 GC04P096036 GC04P091416

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BMPR1B Gene:

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane

serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily.

BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals

through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type

I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the

absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I

receptors require their respective type II receptors for ligand binding. Mutations in this gene have been

associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have

been found for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for BMPR1B Gene:

BMPR1B (bone morphogenetic protein receptor, type IB) is a protein-coding gene. Diseases associated with BMPR1B include chrondrodysplasia, acromesomelic, with genital anomalies, and brachydactyly type a2, and among its related super-pathways are STAT3 Pathway and BMP signalling and regulation. GO annotations related to this gene include protein serine/threonine kinase activity and receptor signaling protein serine/threonine kinase activity. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238

Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane

serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate,

then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NT_016354.19 NC_018915.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BMPR1B gene promoter:
Nkx3-1 AML1a Nkx2-2 Nkx3-1 v1 C/EBPalpha Gfi-1 AREB6 FOXC1 Cart-1 Pax-4a
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for BMPR1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMPR1B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q22-q24 Ensembl cytogenetic band: 4q22.3 HGNC cytogenetic band: 4q23-q24

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

GeneLoc information about chromosome 4 GeneLoc Exon Structure

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

Start:	95,679,119 bp from pter	End:	96,079,601 bp from pter
Size:	400,483 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238 (See protein sequence)

Recommended Name: Bone morphogenetic protein receptor type-1B precursor

Size: 502 amino acids; 56930 Da

Cofactor: Magnesium or manganese (By similarity)

Subcellular location: Membrane; Single-pass type I membrane protein

1 PDB 3D structure from and Proteopedia for BMPR1B:

3MDY (3D)

Secondary accessions: B2R953 B4DSV1 P78366

Alternative splicing: 2 isoforms: O00238-1 O00238-2

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

Explore proteomics data for BMPR1B at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_O00238

4/11 DME Specific Peptides for BMPR1B (O00238) (see all 11)

LITDYHE

IADLGLA

RVGTKRYM

SGSGSGLP

BMPR1B Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (4 alternative transcripts):

NP_001194.1 NP_001243721.1 NP_001243722.1 NP_001243723.1

ENSEMBL proteins:

ENSP00000426617 ENSP00000421144 ENSP00000425444 ENSP00000421671 ENSP00000424693

ENSP00000264568 ENSP00000378389 ENSP00000401907

Reactome Protein details: O00238
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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IC	14523231
GO:0016020	membrane	--	--
GO:0043235	receptor complex	TAS	14523231

BMPR1B for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

CD: CD molecules

IUPHAR Guide to PHARMACOLOGY protein family classification: bone morphogenetic protein receptor, type IB

Type I receptor serine/threonine kinases

Type I subfamily

5/7 InterPro protein domains (see all 7):

IPR017441 Protein_kinase_ATP_BS

IPR011009 Kinase-like_dom

IPR008271 Ser/Thr_kinase_AS

IPR003605 TGF_beta_rcpt_GS

IPR000472 Activin_rcpt

Graphical View of Domain Structure for InterPro Entry O00238

ProtoNet protein and cluster: O00238

1 Blocks protein domain: IPB000472 Domain in TGF-beta receptor/activin receptor

UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238

Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily

Similarity: Contains 1 GS domain

Similarity: Contains 1 protein kinase domain

BMPR1B for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: BMR1B_HUMAN, O00238

Function: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane

serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate,

then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5

Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

Genatlas biochemistry entry for BMPR1B:

bone morphogenetic protein receptor,type 1B,predominantly expressed in prostate,TGFBR superfamily

Enzyme Numbers (IUBMB): EC 2.7.11.30¹ ² EC 2.7.11²

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	protein kinase activity	--	--
GO:0004674	protein serine/threonine kinase activity	IDA	12065756
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	NAS	10051328
GO:0004702	receptor signaling protein serine/threonine kinase activity	IEA	--
GO:0004713	protein tyrosine kinase activity	--	--

BMPR1B for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for BMPR1B:

Decreased substrate adherent c

Increased S DNA content

Increased cell death HMECs cel

12 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Bmpr1b):

cellular	craniofacial	embryogenesis	endocrine/exocrine gland	growth/size
limbs/digits/tail	mortality/aging	nervous system	pigmentation	reproductive system
skeleton	vision/eye

BMPR1B for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Bmpr1b^tm1Kml for BMPR1B

inGenious Targeting Laboratory - Custom generated mouse model solutions for BMPR1B

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		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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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for BMPR1B About (see top 5)

See pathways by source

SuperPath

Contained pathways About

PEDF Induced Signaling

STAT3 Pathway

0.47

Cytokine-cytokine receptor interaction

0.43

Signaling by BMP

Signaling by BMP

0.35

BMP signalling and regulation

0.35

Akt Signaling

	Akt Signaling	0.60			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Apoptosis Pathway

	Apoptosis Pathway	0.45			Akt Pathway	0.39
	NF-kappaB Pathway	0.45

Human Embryonic Stem Cell Pluripotency

Human Embryonic Stem Cell Pluripotency

0.50

Factors Promoting Cardiogenesis in Vertebrates

0.50

PAK Pathway

Antioxidant Action of Vitamin-C

0.56

Signaling by GPCR

Signal Transduction

0.55

Rho Family GTPases

Molecular Mechanisms of Cancer

0.51

DREAM Repression and Dynorphin Expression

BMP Pathway

0.44

mTOR Pathway

TGF-beta Pathway

0.38

TOB in Osteoblast Signaling

TOB in Osteoblast Signaling

TGF-beta signaling pathway

TGF-beta signaling pathway

TGF-beta Signaling Pathway

TGF-beta Signaling Pathway

Ovarian Infertility Genes

Ovarian Infertility Genes

Pathways by source See SuperPaths
Show all pathways

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BMPR1B (see all 11)

	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

2 Reactome Pathways for BMPR1B

	Signal Transduction
	Signaling by BMP

3 Kegg Pathways (Kegg details for BMPR1B):

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

BMPR1B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BMPR1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/179 Interacting proteins for BMPR1B (O00238^{2, 3} ENSP00000264568⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 179)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BMP2	P12643²^,³, ENSP00000368104⁴	MINT-7264575 MINT-7264562 MINT-7264587 I2D: score=3 STRING: ENSP00000368104
GDF5	P43026²^,³, ENSP00000363489⁴	MINT-7264524 MINT-7264542 MINT-7264497 MINT-7264510 MINT-7264457 MINT-7264483 MINT-7264470 I2D: score=3 STRING: ENSP00000363489
POMK	Q9H5K3³, ENSP00000331258⁴	I2D: score=5 STRING: ENSP00000331258
SQSTM1	Q13501³, ENSP00000374455⁴	I2D: score=5 STRING: ENSP00000374455
UBA52	P62987³, ENSP00000388107⁴	I2D: score=5 STRING: ENSP00000388107

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IMP	14523231
GO:0001502	cartilage condensation	NAS	14523231
GO:0001550	ovarian cumulus expansion	ISS	--
GO:0001654	eye development	ISS	--
GO:0006468	protein phosphorylation	IDA	12065756

BMPR1B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BMPR1B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BMPR1B (BMR1B)

4 HMDB Compounds for BMPR1B About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--

3 Novoseek inferred chemical compound relationships for BMPR1B gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
threonine	51.5	1	15621726 (1)
serine	28.9	2	15621726 (1), 14523231 (1)
tyrosine	8.95	3	11467453 (1), 11106404 (1), 9722602 (1)

Search CenterWatch for drugs/clinical trials and news about BMPR1B / BMR1B

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BMPR1B gene (4 alternative transcripts):

NM_001203.2 NM_001256792.1 NM_001256793.1 NM_001256794.1

Unigene Cluster for BMPR1B:

Bone morphogenetic protein receptor, type IB

Hs.598475 [show with all ESTs]

Unigene Representative Sequence: NM_001203

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000515059(uc003htm.4 uc010ilb.3 uc003htn.4) ENST00000506363

ENST00000512312 ENST00000509540 ENST00000502683 ENST00000264568 ENST00000394931

ENST00000440890

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Additional mRNA sequence:

AK293008.1 AK299930.1 AK313642.1 BC047773.1 BC069796.1 BC069803.1 D89675.1 U89326.1

6 DOTS entries:

DT.105795 DT.100744182 DT.105783 DT.97774191 DT.121251548 DT.95286563

24/46 AceView cDNA sequences (see all 46):

AI732586 BC047773 D89675 AA334202 AI984273 BX493471 BF108430 AA332882

BE219575 AI733881 BC069796 CD250597 AA250737 CA389769 BQ934389 R88395

AA165165 BI035500 BM142314 CF454867 BF434716 CB998625 AL694760 BX953863

GeneLoc Exon Structure

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BMPR1B expression in normal human tissues (normalized intensities) BMPR1B embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTCAGTAGTT

About this image

BMPR1B expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/13 selected tissues (see all 13) fully expand


Bone (Muscoskeletal System) fully expand to see all 13 entries
Endochondral Preosteoblasts Stylopod 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

Neural Tube (Nervous System)
Prosencephalon

Eye (Sensory Organs)
Early Retinal Progenitor Cells Retinal Neuroblastic Layer

See BMPR1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BMPR1B

SOURCE GeneReport for Unigene cluster: Hs.598475

SABiosciences Expression via Pathway-Focused PCR Arrays including BMPR1B:

Osteogenesis in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

Leukemia in human mouse rat

Stem Cell Signaling in human mouse rat

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In Situ
Assay Products:

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(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BMPR1B gene from 6/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bmpr1b^{1 , 5}	bone morphogenetic protein receptor, type 1B^{1, 5}	89.24(n)¹ 98.21(a)¹		3 (66.11 cM)⁵ 12167¹ NM_007560.3¹ NP_031586.1¹ 141837136⁵
chicken (Gallus gallus)	Aves	BMPR1B¹	bone morphogenetic protein receptor, type IB	80.94(n) 91.43(a)		396030 NM_205132.1 NP_990463.1
lizard (Anolis carolinensis)	Reptilia	BMPR1B⁶	bone morphogenetic protein receptor, type IB	88(a)	1 ↔ 1	5(49268786-49425973)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.13009²	Transcribed sequence with strong similarity to protein more	81.05(n)		BX724261.1
zebrafish (Danio rerio)	Actinopterygii	AB020758.1²	--	74.36(n)		30742 AB020758.1
fruit fly (Drosophila melanogaster)	Insecta	tkv³	TGFbeta receptor signaling pathway protein kinase	52(a) (best of 2)		--

ENSEMBL Gene Tree for BMPR1B (if available)
TreeFam Gene Tree for BMPR1B (if available)

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

ACVR1C² TGFBR2² AMHR2² ACVR2B² ACVR2A² TGFBR1² ACVR1B² BMPR1A²

ACVR1² ACVRL1² BMPR2²

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

BMPR1B for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
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	--	--	--	--
VAR_023820⁴		Brachydactyly A2 (BDA2)⁴	--	see VAR_023820	2	R W	mis⁴		0	--	--	--	--
VAR_023819⁴		Brachydactyly A2 (BDA2)⁴	--	see VAR_023819	2	I K	mis⁴		0	--	--	--	--
VAR_037967⁴		Brachydactyly A2 (BDA2)⁴	--	see VAR_037967	2	R Q	mis⁴		0	--	--	--	--
rs372347404^1,2	C	--	91421212(+)	`TTTTT-/TTTTTT`	1	--	int¹		0	--	--	--	--
rs3067227^1,2	C	--	91428533(+)	`TCTGTT/GTTTGT`	1	--	int¹		1		CSA	1
rs199892503^1,2		--	91446150(+)	`ATCAA-/TGTGGTA`	1	--	int¹		0	--	--	--	--
rs199768732^1,2		--	91447892(+)	`AAAAA-/ATCACTT`	1	--	int¹		0	--	--	--	--
rs36091654^1,2	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) 10/11 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

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603248
OMIM disorders: 112600 609441
UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238

Acromesomelic chondrodysplasia, with genital anomalies (AMDGA) [MIM:609441]: A form of chondrodysplasia.

Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short

limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with

profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). Note=The

disease is caused by mutations affecting the gene represented in this entry

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

20/25 diseases for BMPR1B (see all 25): About MalaCards

chrondrodysplasia, acromesomelic, with genital anomalies brachydactyly type a2 brachydactyly type c primary pulmonary hypertension

brachydactyly osteochondroma hypertension syndactyly

pandas chondrodysplasia myelofibrosis short stature

malignant glioma pancreatic cancer infertility pancreatitis

ovarian cancer asthma prostate cancer myeloma

2 diseases from the University of Copenhagen DISEASES database for BMPR1B:

Brachydactyly Syndactyly

BMPR1B for disorders About GeneDecksing

6 Novoseek inferred disease relationships for BMPR1B gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
brachydactyly, type a2	92.5	2	16127465 (1), 19327734 (1)
pancreatic cancer	17.7	3	10415856 (1), 10449972 (1)
inflammation	0	1	12151307 (1)
breast cancer	0	2	15892165 (1), 17004110 (1)
tumors	0	1	10974075 (1)
prostate cancer	0	1	9178898 (1)

Genetic Association Database (GAD): BMPR1B
Human Genome Epidemiology (HuGE) Navigator: BMPR1B (8 documents)

Export disorders for BMPR1B gene to outside databases

(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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PubMed articles for BMPR1B gene, integrated from 9 sources (see all 152):
(articles sorted by number of sources associating them with BMPR1B)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (PubMed id 14523231)^{1, 2, 9} Lehmann K.... Mundlos S. (2003)
Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PubMed id 10051328)^{1, 2, 9} Astroem A.-K.... Stenman G. (1999)
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. (1997)
A genome-wide linkage and association scan reveals nov el loci for hypertension and blood pressure traits. (PubMed id 22384028)^{1, 4} Guo Y....Thomas N.G. (2012)
Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)^{1, 4} Joslyn G....White R.L. (2010)
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. (2010)
Family-based genome-wide association scan of attentio n-deficit/hyperactivity disorder. (PubMed id 20732626)^{1, 4} Mick E....Faraone S.V. (2010)
Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)^{1, 4} Jugessur A....Murray J.C. (2010)
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. (2009)
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. (PubMed id 15805157)^{1, 2} Demirhan O.... Lehmann K. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 658	HGNC: 1077	AceView: BMPR1B	Ensembl:ENSG00000138696	euGenes: HUgn658
ECgene: BMPR1B	Kegg: 658	H-InvDB: BMPR1B

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for BMPR1B	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BMPR1B	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BMPR1B

Intellectual Property for BMPR1B gene
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Patent Information for BMPR1B gene:
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GeneCards and IP:
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BMPR1B Gene

Bone Morphogenetic Protein Receptor, Type IB

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BMPR1B Gene

Bone Morphogenetic Protein Receptor, Type IB

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