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Aliases & Descriptions for BMPR1B
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ALK-6 2 | | ALK6 1, 2, 5 | | CDw293 1, 2 | | EC 2.7.11.30 3 | | OTTHUMP00000161622 2 |
| | | Descriptions |
|---|
| CDw293 antigen 3 | | activin receptor-like kinase 6 2 | | bone morphogenetic protein receptor, type IB 2 | | serine/threonine receptor kinase 2 |
|
| | Search outside databases for aliases for BMPR1B genePrevious GC identifers: GC04P096144 GC04P096137 GC04P096036 |
Summaries for BMPR1B(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for BMPR1B: 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. [provided by RefSeq] UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238Function: 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 BMPS/OP-1 |
Genomic Location for BMPR1B
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the BMPR1B gene 
Entrez Gene cytogenetic band: 4q22-q24 Ensembl cytogenetic band: 4q22.3 HGNC cytogenetic band: 4q23-q24BMPR1B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P095991:
(about GC identifiers)
Start:
|
95,898,151 bp from pter |
End:
|
96,295,190 bp from pter |
Size:
|
397,040 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000004.10 NT_016354.18
| Proteins for BMPR1B
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
Secondary accessions: P78366REFSEQ proteins: NP_001194.1
ENSEMBL proteins: ENSP00000378389 ENSP00000264568
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for BMPR1B: Assays for BMPR1B: | Protein
Domains/ Families for BMPR1B(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O00238
ProtoNet protein and cluster: O00238 1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor
UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamilySimilarity: Contains 1 GS domainSimilarity: Contains 1 protein kinase domain | Gene Function for BMPR1B
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001203
Applied Biosystems Silencer® siRNAs for BMPR1B
Sigma-Aldrich siRNA and siRNA Panels for BMPR1B  Sigma-Aldrich shRNA Panels and shRNA for BMPR1B  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001203                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001203                                  untagged cDNA clone in CMV expression vector: NM_001203 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001203
UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238Function: 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 BMPS/OP-1Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphateEnzyme Number (IUBMB): EC 2.7.11.30 Genatlas biochemistry entry for BMPR1B:bone morphogenetic protein receptor,type 1B,predominantly expressed in prostate,TGFBR superfamily11 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Bmpr1b):
5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
): About this table | Pathways & Interactions for BMPR1B
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for BMPR1B (Your Favorite Gene powered by Ingenuity) (see all 8
) 
Gene Network CentralTM Interacting Genes and Proteins Network for BMPR1B 
5/69 Interacting proteins for BMPR1B (O002382 ENSP000002645683) via UniProtKB, MINT, and/or STRING (see all 69
)About this table
5/14 Gene Ontology (GO) biological process terms (links to tree view) (see all 14
): About this table
|
Drugs & Compounds for BMPR1B(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for BMPR1B 2 Novoseek chemical compound relationships for BMPR1B gene
About this table
|
Transcripts for BMPR1B(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001203
Sigma-Aldrich siRNA and siRNA Panels for BMPR1B  Sigma-Aldrich shRNA Panels and shRNA for BMPR1B  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001203 REFSEQ mRNAs for BMPR1B gene: NM_001203.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001203               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001203                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001203                                  untagged cDNA clone in CMV expression vector: NM_001203  Additional cDNA 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
):AA334202 BE219575 BF108430 BX493471 AI732586 BC047773 AI984273 AA332882 D89675 AA250737 BC069796 BX953864 AA410943 BI035500 AI733881 BM981392 BF434716 R88395 CA389769 BM142314 BC069803 CD250597 CB048547 BX953863
highest scoring ESTs for BMPR1B:U89326 BC047773 BC069796 BC069803 BF115446 BF434716 BF964573 BM142314 D89675 AA655034 Unigene Cluster for BMPR1B: Bone morphogenetic protein receptor, type IB Hs.598475 [show with all ESTs]Unigene Representative Sequence: NM_001203
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000394931
ENST00000264568
|
Expression for BMPR1B
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| BMPR1B expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for BMPR1B
1 / 2 / 3 10 probe-sets matching BMPR1B gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTCAGTAGTT
SOURCE GeneReport for Unigene cluster: Hs.598475
Expression variation in blood from EXPOLDB for BMPR1B |
Orthologs for BMPR1B
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for BMPR1B gene from 5/9 species (see all 9
)
About this table Species with no ortholog for BMPR1B
ENSEMBL Gene Tree for BMPR1B | Paralogs for BMPR1B(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for BMPR1B gene
- BMPR1A2
|
SNPs/Variants for BMPR1B(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for BMPR1B (up to first 250kb)
|
Disorders & Mutations for BMPR1B
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 603248 disorders: 112600 609441 UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238
Defects in BMPR1B are the cause of acromesomelic chondrodysplasia with genital anomalies (AMDGA) [MIM:609441]. 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) Defects in BMPR1B are a cause of brachydactyly type A2 (BDA2) [MIM:112600]. Brachydactylies (BDs) are a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. They have been classified on an anatomic and genetic basis into five groups, A to E, including three subgroups (A1 to A3) that usually manifest as autosomal dominant traits. BDA2 was described first in a large Norwegian kindred. BDA2 is caused by mutations in BMPR1B gene and studies demonstrate that these mutations function as dominant negatives in vitro and in vivo6 Novoseek disease relationships for BMPR1B gene
About this table
Human Gene Mutation Database: BMPR1B Genetic Association Database: BMPR1B Human Genome Epidemiology Navigator: BMPR1B (1 document)
|
Medical News for BMPR1B(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for BMPR1B (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/117 PubMed articles for BMPR1B gene (see all 117
):- Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (PubMed id 14523231)1, 3, 4 Lehmann K.... Mundlos S. (2003)
- Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PubMed id 10051328)1, 3, 4 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, 3, 4 Ide H.... Terada M. (1997)
- A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. (PubMed id 15805157)3, 4 Demirhan O.... Lehmann K. (2005)
- The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. (PubMed id 15235019)3, 6 Howe J.R....Lynch H.T. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping. (PubMed id 9730621)2, 3 Ide H....Terada M. (1998)
- Characterization of type I receptors for transforming growth factor-beta and activin. (PubMed id 8140412)2, 3 ten Dijke P....Heldin C.H. (1994)
- Characterization of the bone morphogenetic protein (BMP) system in human pulmonary arterial smooth muscle cells isolated from a sporadic case of primary pulmonary hypertension: roles of BMP type IB receptor (activin receptor-like kinase-6) in the mitotic action. (PubMed id 15192043)1, 3 Takeda M....Makino H. (2004)
- Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases. (PubMed id 11279102)1, 3 Parks W.T.... Lechleider R.J. (2001)
|
Search for BMPR1B
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing BMPR1B
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing BMPR1B
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BMPR1B(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for BMPR1B(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for BMPR1B:

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