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BMPR1A Gene

protein-coding   GIFtS: 73
GCID: GC10P088506

Bone Morphogenetic Protein Receptor, Type IA


(Previous symbol: ACVRLK3)
  See BMPR1A-related diseases
at  

(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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Aliases
Bone Morphogenetic Protein Receptor, Type IA1 2     BMP Type-1A Receptor2 3
ACVRLK31 2 3 5     EC 2.7.11.303 8
ALK32 3 5     10q23del2
Activin Receptor-Like Kinase 32 3     CD2922
Serine/Threonine-Protein Kinase Receptor R52 3     Activin A Receptor, Type II-Like Kinase 32
ALK-32 3     Bone Morphogenetic Protein Receptor Type-1A2
BMPR-1A2 3     CD292 Antigen3
SKR52 3     EC 2.7.118

External Ids:    HGNC: 10761   Entrez Gene: 6572   Ensembl: ENSG000001077797   OMIM: 6012995   UniProtKB: P368943   

Export aliases for BMPR1A gene to outside databases

Previous GC identifers: GC10P087398 GC10P087738 GC10P088647 GC10P088180 GC10P082370


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BMPR1A Gene:
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include
the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related
to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta
superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for BMPR1A Gene:
BMPR1A (bone morphogenetic protein receptor, type IA) is a protein-coding gene. Diseases associated with BMPR1A include bmpr1a-related juvenile polyposis, and juvenile polyposis syndrome, infantile form. GO annotations related to this gene include sequence-specific DNA binding RNA polymerase II transcription factor activity and protein homodimerization activity. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: BMR1A_HUMAN, P36894
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 BMP-2 and BMP-4

Gene Wiki entry for BMPR1A 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_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the BMPR1A gene promoter:
         NF-1   NF-1/L   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBMPR1A promoter sequence
   Search Chromatin IP Primers for BMPR1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BMPR1A


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

Entrez Gene cytogenetic band: 10q22.3   Ensembl cytogenetic band:  10q23.2   HGNC cytogenetic band: 10q22.3

BMPR1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMPR1A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P088506:  view genomic region     (about GC identifiers)

Start:
88,516,396 bp from pter      End:
88,692,595 bp from pter
Size:
176,200 bases      Orientation:
plus strand

(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, and/or antibodies-online,
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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BMR1A_HUMAN, P36894 (See protein sequence)
Recommended Name: Bone morphogenetic protein receptor type-1A precursor  
Size: 532 amino acids; 60198 Da
Cofactor: Magnesium or manganese (By similarity)
Selected PDB 3D structures from and Proteopedia for BMPR1A (see all 11):
1ES7 (3D)        1REW (3D)        2GOO (3D)        2H62 (3D)        2H64 (3D)        2K3G (3D)    
Secondary accessions: A8K6U9 Q8NEN8

Explore the universe of human proteins at neXtProt for BMPR1A: NX_P36894

Explore proteomics data for BMPR1A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn73
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BMPR1A (P36894) (see all 12)
     LITDYHE  IADLGLA  YMAPEVL  RVGTKRYM 


    See BMPR1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004320.2  
    ENSEMBL proteins: 
     ENSP00000361107  
    Reactome Protein details: P36894

    BMPR1A Human Recombinant Protein Products:

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    antibodies-online peptides for BMPR1A

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: bone morphogenetic protein receptor, type IA
    Type I receptor serine/threonine kinases
    Type I subfamily

    Selected InterPro protein domains (see all 6):
     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 P36894

    ProtoNet protein and cluster: P36894

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

    UniProtKB/Swiss-Prot: BMR1A_HUMAN, P36894
    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


    Find genes that share domains with BMPR1A           About GenesLikeMe


    (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,
    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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMR1A_HUMAN, P36894
    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 BMP-2 and BMP-4
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for BMPR1A:
    bone morphogenetic protein receptor,type 1A,expressed almost exclusively in skeletal muscle,regulator of
    chondrocyte differentiation,down stream mediator of Indian Hedgehog,TGFBR superfamily

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IEA--
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity TAS--
    GO:0004713protein tyrosine kinase activity ----
         
    Find genes that share ontologies with BMPR1A           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for BMPR1A:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased G2M DNA content, inc  Increased cell death in breast 
     Increased mitotic index  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Bmpr1a) (see all 24):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 

    Find genes that share phenotypes with BMPR1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BMPR1A: Bmpr1atm2.2Bhr Bmpr1atm1Bhr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BMPR1A
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BMPR1A

    miRNA
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    hsa-mir-455-3p (MIRT037861), hsa-mir-124-3p (MIRT022438)

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    Selected qRT-PCR Assays for microRNAs that regulate BMPR1A (see all 41):
    hsa-miR-3130-5p hsa-miR-136 hsa-miR-513a-5p hsa-miR-15a hsa-miR-503 hsa-miR-488 hsa-miR-424 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidBMPR1A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BMPR1A

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    Addgene plasmids for BMPR1A 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BMR1A_HUMAN, P36894: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    peroxisome2
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005901colocalizes with caveola IMP15657086
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0030425dendrite IEA--

    Find genes that share ontologies with BMPR1A           About GenesLikeMe


    (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 GeneDecks, 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).
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    SuperPaths for BMPR1A About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    2Signaling by BMP
    Signaling by BMP0.35
    BMP signalling and regulation0.35
    3Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    4Apoptosis Pathway
    Apoptosis Pathway0.45
    Akt Pathway0.39
    NF-kappaB Pathway0.45
    5Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50


    Find genes that share SuperPaths with BMPR1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BMPR1A (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 BMPR1A
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    4 BioSystems Pathways for BMPR1A
        Heart Development
    BMP signalling and regulation
    Integrated Breast Cancer Pathway
    Endochondral Ossification

    1 Sino Biological Pathway for BMPR1A
        TGF-beta Signaling Pathway

    1 Reactome Pathway for BMPR1A
        Signaling by BMP


    3 Kegg Pathways  (Kegg details for BMPR1A):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway
    Hippo signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMPR1A: 
              Osteogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BMPR1A

    Selected Interacting proteins for BMPR1A (P368941, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP2P126431, 2, 3EBI-1029237,EBI-1029262 MINT-7261613 MINT-7261693 MINT-7261751 MINT-7990950 MINT-7261681 MINT-7261597 MINT-7261806 MINT-7261817 MINT-7261794 MINT-7261846 MINT-8044230 I2D: score=5 
    GDF5P430261, 2, 3EBI-1029237,EBI-8571476 MINT-7264663 MINT-7264650 MINT-7264675 I2D: score=3 
    BMP4P126441, 2, 3EBI-1029237,EBI-1998134 MINT-7990971 MINT-8044242 I2D: score=4 
    FSTL1Q128412, 3MINT-7990885 I2D: score=1 
    BMPR2Q138733I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 48):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001707mesoderm formation IEA--
    GO:0001756somitogenesis IEA--
    GO:0001880Mullerian duct regression IEA--
    GO:0002053positive regulation of mesenchymal cell proliferation IEA--

    Find genes that share ontologies with BMPR1A           About GenesLikeMe



    (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)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for BMPR1A (BMR1A)

    4 HMDB Compounds for BMPR1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    2 Novoseek inferred chemical compound relationships for BMPR1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 58.2 3 19244313 (1), 15621726 (1)
    serine 42 3 19244313 (1), 15621726 (1)



    Find genes that share compounds with BMPR1A           About GenesLikeMe



    (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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    REFSEQ mRNAs for BMPR1A gene: 
    NM_004329.2  

    Unigene Cluster for BMPR1A:

    Bone morphogenetic protein receptor, type IA
    Hs.524477  [show with all ESTs]
    Unigene Representative Sequence: NM_004329
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372037 ENST00000480152
    miRNA
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    hsa-miR-3130-5p hsa-miR-136 hsa-miR-513a-5p hsa-miR-15a hsa-miR-503 hsa-miR-488 hsa-miR-424 hsa-miR-629*
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      QuantiTect SYBR Green Assays in human, mouse, rat BMPR1A
      QuantiFast Probe-based Assays in human, mouse, rat BMPR1A

    Additional mRNA sequence: 

    AB451405.1 AK291764.1 BC028383.1 DQ786215.1 Z22535.1 

    15 DOTS entries:

    DT.456093  DT.95309491  DT.121286608  DT.92460278  DT.120714749  DT.121286540  DT.95264644  DT.97840441 
    DT.100826756  DT.121286544  DT.121286654  DT.121403112  DT.92380060  DT.121286659  DT.40304073 

    Selected AceView cDNA sequences (see all 108):

    BM473726 CA449256 F09248 BX282151 AI638347 BE011659 Z22535 BU071087 
    NM_004329 CB268133 AW614059 F11592 AI694927 CK902396 BQ008031 AI025541 
    BM760624 BM787118 AA825571 AU124052 CB045956 AW300362 BX113313 AI025968 

    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™, 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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    BMPR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTACCTCAT
    BMPR1A Expression
    About this image


    BMPR1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Hair
             Fetal Precortex Cells Hair Shaft
             mouse/organ system/integumental system   
     
     Epithelial Cells
             Fetal Precortex Cells Hair Shaft
     
     Bone (Muscoskeletal System)    fully expand to see all 12 entries
             Endochondral Osteoblasts Rostral Endochondral Facial Bones
             Bone Marrow
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Medulla Oblongata
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
    BMPR1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BMPR1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524477

    UniProtKB/Swiss-Prot: BMR1A_HUMAN, P36894
    Tissue specificity: Highly expressed in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMPR1A: 
              Osteogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for BMPR1A
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for BMPR1A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bmpr1a1 , 5 bone morphogenetic protein receptor, type 1A1, 5 90.91(n)1
    97.93(a)1
      14 (20.81 cM)5
    121661  NM_009758.41  NP_033888.21 
     344107345 
    chicken
    (Gallus gallus)
    Aves BMPR1A1 bone morphogenetic protein receptor, type IA 80.14(n)
    91.17(a)
      396308  NM_205357.1  NP_990688.1 
    lizard
    (Anolis carolinensis)
    Reptilia BMPR1A6
    bone morphogenetic protein receptor, type IA
    86(a)
    1 ↔ 1
    GL343199.1(4313630-4354677)
    African clawed frog
    (Xenopus laevis)
    Amphibia D32066.12   -- 76.79(n)    D32066.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bmpr1a2 bone morphogenetic protein receptor, type 1a 77.42(n)   58145  AB011826.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tkv3 TGFbeta receptor signaling pathway
    protein kinase
    51(a)
    (best of 2)
        --


    ENSEMBL Gene Tree for BMPR1A (if available)
    TreeFam Gene Tree for BMPR1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BMPR1A gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    8 SIMAP similar genes for BMPR1A using alignment to 2 protein entries:     BMR1A_HUMAN (see all proteins):
    BMPR1B    ACVRL1    TGFBR1    ACVR1    ACVR1C    ACVR1B
    ACVR2A    TGFBR2

    Find genes that share paralogs with BMPR1A           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for BMPR1A
    PGOHUM00000242511 PGOHUM00000243360


    (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 BMPR1A (see all 3474)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs356194971,2,,4
    C,FJuvenile polyposis syndrome (JPS)4 --89052894(+) CTCGTC/TGTTGT 2 R C mis13Minor allele frequency- T:0.00NA 4556
    VAR_0413984
    A renal clear cell carcinoma sample4--see VAR_0413982 F Y mis40--------
    VAR_0155334
    Juvenile polyposis syndrome (JPS)4--see VAR_0155332 C R mis40--------
    VAR_0228324
    Juvenile polyposis syndrome (JPS)4--see VAR_0228322 M T mis40--------
    VAR_0155344
    Juvenile polyposis syndrome (JPS)4--see VAR_0155342 A D mis40--------
    VAR_0155354
    Juvenile polyposis syndrome (JPS)4--see VAR_0155352 C Y mis40--------
    VAR_0228304
    Juvenile polyposis syndrome (JPS)4--see VAR_0228302 C R mis40--------
    VAR_0228284
    Juvenile polyposis syndrome (JPS)4--see VAR_0228282 Y D mis40--------
    VAR_0228294
    Juvenile polyposis syndrome (JPS)4--see VAR_0228292 C Y mis40--------
    VAR_0414004
    A gastric adenocarcinoma sample4--see VAR_0414002 R Q mis40--------

    HapMap Linkage Disequilibrium report for BMPR1A (88516396 - 88692595 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BMPR1A (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2566276CNV Deletion19546169
    esv2249804CNV Deletion18987734
    esv2739217CNV Deletion23290073
    esv2811CNV Deletion18987735
    esv2739206CNV Deletion23290073
    nsv7482CNV Insertion18451855
    esv1482533CNV Insertion17803354
    esv9067CNV Loss19470904
    nsv7481CNV Loss18451855
    nsv895857CNV Loss21882294

    Human Gene Mutation Database (HGMD): BMPR1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BMPR1A
    DNA2.0 Custom Variant and Variant Library Synthesis for BMPR1A

    (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.)
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    OMIM gene information: 601299   
    OMIM disorders: 174900  610069  
    UniProtKB/Swiss-Prot: BMR1A_HUMAN, P36894
  • Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal dominant gastrointestinal hamartomatous
    polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are
    typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core.
    Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without
    associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased
    risk of colon and other gastrointestinal cancers. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Polyposis syndrome, mixed hereditary 2 (HMPS2) [MIM:610069]: A disease is characterized by atypical
    juvenile polyps, colonic adenomas, and colorectal carcinomas. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23
    deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome,
    Cowden disease and juvenile polyposis syndrome

  • 12 diseases for BMPR1A:    
    About MalaCards
    bmpr1a-related juvenile polyposis    juvenile polyposis syndrome, infantile form    hereditary mixed polyposis syndrome 2    juvenile polyposis of infancy
    colorectal cancer, hereditary nonpolyposis, type 1    juvenile polyposis syndrome    brachydactyly type a2    ruvalcaba syndrome
    cowden disease    bannayan-riley-ruvalcaba syndrome    protein-losing enteropathy    intestinal obstruction

    4 diseases from the University of Copenhagen DISEASES database for BMPR1A:
    Bannayan-Riley-Ruvalcaba syndrome     Cowden disease     Hereditary hemorrhagic telangiectasia     Peutz-Jeghers syndrome

    Find genes that share disorders with BMPR1A           About GenesLikeMe

    10 Novoseek inferred disease relationships for BMPR1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    juvenile polyposis syndrome 91.9 4 16152648 (1), 17873119 (1), 15378062 (1)
    polyposis 72.3 7 16292097 (1), 12630959 (1), 17573831 (1), 18823382 (1) (see all 7)
    cowden disease 61.3 3 16292097 (2), 15378062 (1)
    polyps 44.1 1 19773747 (1)
    hypertension arterial 25.3 3 18079409 (2)
    pancreatic cancer 16.5 2 9850059 (1)
    hypertension pulmonary 2.69 5 12571257 (4), 15615096 (1)
    breast cancer 0 2 9850059 (1), 17004110 (1)
    tumors 0 2 10850425 (1), 19318548 (1)
    prostate cancer 0 1 10850425 (1)

    GeneTests: BMPR1A
    GeneReviews: BMPR1A
    Genetic Association Database (GAD): BMPR1A
    Human Genome Epidemiology (HuGE) Navigator: BMPR1A (18 documents)

    Export disorders for BMPR1A 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 BMPR1A gene, integrated from 10 sources (see all 199):
    (articles sorted by number of sources associating them with BMPR1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PubMed id 8397373)1, 2, 3, 9 ten Dijke P.... Miyazono K. (Oncogene 1993)
    2. Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. (PubMed id 12136244)1, 2, 4 Friedl W.... Propping P. (Hum. Genet. 2002)
    3. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. (PubMed id 12417513)1, 2, 4 Sayed M.G.... Howe J.R. (Ann. Surg. Oncol. 2002)
    4. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. (PubMed id 18823382)1, 4, 9 Calva-Cerqueira D....Howe J.R. (Clin. Genet. 2009)
    5. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. (PubMed id 15235019)1, 4, 9 Howe J.R....Lynch H.T. (J. Med. Genet. 2004)
    6. Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. (PubMed id 12630959)1, 2, 9 Kim I.J.... Park J.G. (Clin. Genet. 2003)
    7. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. (PubMed id 17873119)1, 4, 9 Aretz S....Friedl W. (J. Med. Genet. 2007)
    8. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. (PubMed id 11381269)1, 2, 9 Howe J.R.... Vogelstein B. (Nat. Genet. 2001)
    9. Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23--&gt;q24 byin situ hybridization and radiation hybrid map ping. (PubMed id 9730621)1, 3, 9 Ide H....Terada M. (Cytogenet. Cell Genet. 1998)
    10. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 657 HGNC: 1076 AceView: BMPR1A Ensembl:ENSG00000107779 euGenes: HUgn657
    ECgene: BMPR1A Kegg: 657 H-InvDB: BMPR1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BMPR1A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BMPR1A Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BMPR1A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BMPR1A gene:
    Search GeneIP for patents involving BMPR1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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