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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BMPR1A Gene

protein-coding   GIFtS: 73
GCID: GC10P088506

bone morphogenetic protein receptor, type IA


(Previous symbol: ACVRLK3)
 Explore 45 diseases affiliated with
BMPR1A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BMPR1A    

Aliases
for BMPR1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Bone Morphogenetic Protein Receptor, Type IA1 2     SKR52 3
ACVRLK31 2 3 5     BMP Type-1A Receptor2 3
ALK31 2 3 5     EC 2.7.11.303 8
CD2921 2     10q23del2
Activin Receptor-Like Kinase 32 3     Activin A Receptor, Type II-Like Kinase 32
Serine/Threonine-Protein Kinase Receptor R52 3     Bone Morphogenetic Protein Receptor Type-1A2
ALK-32 3     CD292 Antigen3
BMPR-1A2 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


Summaries
for BMPR1A gene

(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 BMPR1A:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BMPR1A gene promoter:
         NF-1   NF-1/L   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BMPR1A promoter sequence
   Search SABiosciences Chromatin IP Primers for BMPR1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 88,684,945 bp from pter
Size:
 168,550 bases      Orientation:
 plus strand

Proteins
for BMPR1A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Membrane; Single-pass type I membrane protein
6/11 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36894

    • 4/12 DME Specific Peptides for BMPR1A (P36894) (see all 12)
     LITDYHE  IADLGLA  YMAPEVL  RVGTKRYM 

    BMPR1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004320.2  
    ENSEMBL proteins: 
     ENSP00000361107   ENSP00000224764  
    Reactome Protein details: P36894
    Human Recombinant Protein Products: 
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    Sino Biological Recombinant Protein for BMPR1A
    ProSpec Recombinant Protein for BMPR1A
    Uscn Proteins for BMPR1A

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005901colocalizes with caveola IMP15657086
    GO:0016021integral to membrane IEA--
    GO:0030425dendrite IEA--
    GO:0043025neuronal cell body IEA--


    BMPR1A for ontologies           About GeneDecksing



    BMPR1A Antibody Products: 
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    ThermoFisher Antibody for BMPR1A

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    Uscn ELISAs and CLIAs for BMPR1A

    Protein Domains /
    Families
    for BMPR1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BMPR1A for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: 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


    Function
    for BMPR1A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMPR1A
    8/41 QIAGEN miScript miRNA 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 plasmid: BMPR1A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMPR1A (see all 7)
    OriGene shRNA RFP: BMPR1A
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMPR1A

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IEA--
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity TAS--
    GO:0005024transforming growth factor beta-activated receptor activity IEA--
    GO:0005515protein binding IPI18184661


    BMPR1A for ontologies           About GeneDecksing


    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 

    Animal Models:
         Mouse knock-outs for BMPR1A: Bmpr1atm2.2Bhr Bmpr1atm1Bhr
         15/24 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  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 

    BMPR1A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BMPR1A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptosis Pathway
    		Apoptosis Pathway1.00
    		Akt Pathway0.39
    		NF-kappaB Pathway0.45
    2Akt Signaling
    		Akt Signaling1.00
    		Tec Kinases Signaling0.55
    		p38 Signaling0.60
    3Signaling by BMP
    		Signaling by BMP1.00
    		BMP signalling and regulation0.35
    4Human Embryonic Stem Cell Pluripotency
    		Human Embryonic Stem Cell Pluripotency1.00
    		Factors Promoting Cardiogenesis in Vertebrates0.50
    5PEDF Induced Signaling
    		STAT3 Pathway0.47
    		Cytokine-cytokine receptor interaction0.26

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/11 Downloadable PowerPoint Slides of QIAGEN 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
    Integrated Breast Cancer Pathway
    BMP signalling and regulation
    Endochondral Ossification

    2        Reactome Pathways for BMPR1A
        Signal Transduction
    Signaling by BMP


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


    BMPR1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BMPR1A

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

    5/55 Interacting proteins for BMPR1A (P368941, 2, 3 ENSP000002247644) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP2P126431, 2, 3, ENSP000003681044EBI-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 STRING: ENSP00000368104
    GDF5P430262, 3, ENSP000003634894MINT-7264663 MINT-7264650 MINT-7264675 I2D: score=3 STRING: ENSP00000363489
    BMP4P126442, 3, ENSP000002454514MINT-7990971 MINT-8044242 I2D: score=4 STRING: ENSP00000245451
    FSTL1Q128412, 3, ENSP000002956334MINT-7990885 I2D: score=1 STRING: ENSP00000295633
    TGFBRAP1Q8WUH23, ENSP000002584494I2D: score=2 STRING: ENSP00000258449
    About this table

    Gene Ontology (GO): 5/49 biological process terms (GO ID links to tree view) (see all 49):    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--


    BMPR1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for BMPR1A gene

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

    BMPR1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BMPR1A

    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 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)

    Search CenterWatch for drugs/clinical trials and news about BMPR1A / BMR1A 

    Transcripts
    for BMPR1A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372037 ENST00000474620 ENST00000480152 ENST00000224764(uc001kdy.3)


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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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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    14 DOTS entries:

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

    24/108 AceView cDNA sequences (see all 108):

    BE011659 BX113313 AA825571 BX282151 CK902396 AW614059 BM760624 BM787118 
    AW300362 CR608899 BM473726 CB045956 AI025968 CD677784 AA639786 AI638347 
    Z22535 BU071087 AI025541 CB268133 AA974020 F11592 AW194297 AU124052 

    GeneLoc Exon Structure


    Expression
    for BMPR1A 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 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

    BMPR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTACCTCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BMPR1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/61 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 61) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeBody Subcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeCervical Brown Adipose DepotCervical Committed Brown PreadipocytesAdipose
    AdiposeLumbar Brown Adipose DepotLumbar Committed Brown PreadipocytesAdipose
    AdiposeSacral Brown Adipose DepotSacral Committed Brown PreadipocytesAdipose
    AdiposeThoracic Brown Adipose DepotThoracic Committed Brown PreadipocytesAdipose
    AdiposeVisceral White AdiposeVisceral White PreadipocytesAdipose
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneAutopod Epiphyseal EndPrechondrocytesBone, Cartilage
    BoneAutopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    BoneAutopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Embryoid bodies (Generation and expan...)

    See BMPR1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BMPR1A

    SOURCE GeneReport for Unigene cluster: Hs.524477

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including BMPR1A: 
              Osteogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

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    Orthologs
    for BMPR1A 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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for BMPR1A gene from 7/22 species (see all 22)    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
    		 --
    		 86(a)
    		 1 ↔ 1
    		 GL343199.1(4313630-4334290)
    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 tkv1 , 3 TGFbeta receptor signaling pathway protein
    kinase3
    thickveins1    		 51(a)
    (best of 2)3
    54.91(n)1
    54.85(a)1    		   337531  NM_175975.11  NP_787989.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea daf-13
    sma-61    		 protein kinase3
    Protein SMA-61    		 39(a)
    (best of 2)3
    48.76(n)1
    40.39(a)1    		   IV(132451-137621)3
    1740441  NM_062870.41  NP_495271.11 


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

    Paralogs
    for BMPR1A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BMPR1A gene
    TGFBR22  ACVR1C2  AMHR22  ACVR2A2  ACVR2B2  ACVR1B2  TGFBR12  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    9 SIMAP similar genes for BMPR1A using alignment to 2 protein entries:     BMR1A_HUMAN (see all proteins):
    BMPR1B    ACVRL1    TGFBR1    ACVR1    ACVR1C    ACVR1B
    ACVR2A    TGFBR2    ACVR2B

    BMPR1A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for BMPR1A
    PGOHUM00000242511 PGOHUM00000243360


    Genomic Variants
    for BMPR1A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2848 NCBI SNPs in BMPR1A are shown (see all 2848)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1994760871,2
    		Cpathogenic88659587(+) TAGAAC/TGTTGT 2 R C mis10--------
    rs1994760841,2
    		Cpathogenic88676930(+) TCCGGC/TAAGTT 2 Q * stg10--------
    rs1994760851,2
    		Cpathogenic88677027(+) CAGCTA/GGTTTC 2 * W stg10--------
    rs1994760861,2
    		Cpathogenic88679073(+) TTCAGA/CTGCCT 2 D A mis10--------
    rs1994760881,2
    		Cpathogenic88679187(+) GAGTTA/GCTGCA 2 Y C mis10--------
    rs1994760891,2
    		Cpathogenic88683199(+) AGATAC/TGCGTG 2 T M mis10--------
    rs340765411,2
    		C,F,--88514447(+) AAAGCT/GGGGGC 1 -- us2k15Minor allele frequency- G:0.43NA EA 246
    rs1127273411,2
    		--88514467(+) TGGCTC/AACGCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1857082221,2
    		--88514530(+) ATCGAA/GAACAC 1 -- us2k10--------
    rs1499804421,2
    		--88514575(+) ATACAA/GAAAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BMPR1A (88516396 - 88684945 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for BMPR1A
         3 CNVs: 3815 101001 6890
         6 Indels: 61045 39771 71069 44793 39770 42892
    Human Gene Mutation Database (HGMD): BMPR1A

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    Disorders / Diseases
    for BMPR1A 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.)
    About This Section
    BMPR1A for disorders           About GeneDecksing

    OMIM gene information: 601299   
    OMIM disorders: 174900  610069  
    UniProtKB/Swiss-Prot: BMR1A_HUMAN, P36894
  • Defects in BMPR1A are a cause of juvenile polyposis syndrome (JPS) [MIM:174900]; also known as juvenile
    • intestinal polyposis (JIP). JPS is an 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
  • Defects in BMPR1A are a cause of Cowden disease (CD) [MIM:158350]. CD is an autosomal dominant cancer syndrome
    • characterized by multiple hamartomas and by a high risk for breast, thyroid and endometrial cancers
  • Defects in BMPR1A are the cause of hereditary mixed polyposis syndrome 2 (HMPS2) [MIM:610069]. Hereditary
    • mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal
    carcinomas
  • 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

    20/45 diseases for BMPR1A (see all 45):    About MalaCards
    bannayan-riley-ruvalcaba syndrome    juvenile polyposis syndrome, infantile form    fibrodysplasia ossificans progressiva    juvenile polyposis syndrome
    brachydactyly type a2    hereditary mixed polyposis syndrome 2    peutz-jeghers syndrome    polyposis
    ruvalcaba syndrome    hereditary hemorrhagic telangiectasia    familial adenomatous polyposis    cowden disease
    sickle cell anemia    cleft lip    brachydactyly    cleft palate
    pancreatic ductal adenocarcinoma    epithelial ovarian cancer    pituitary adenoma    hepatopulmonary syndrome

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

    10 Novoseek 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
    Juvenile Polyposis Syndrome

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

    Export disorders for BMPR1A gene to outside databases

    Publications
    for BMPR1A 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)
    About This Section

    PubMed articles for BMPR1A gene, integrated from 9 sources (see all 188):
    (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. (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. (2002)
    3. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. (PubMed id 12417513)1, 2, 4 Sayed M.G.... Howe J.R. (2002)
    4. 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. (2004)
    5. 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. (2003)
    6. 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. (2001)
    7. 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)1, 3, 9 Ide H....Terada M. (1998)
    8. Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. (PubMed id 16525031)1, 2 Cao X.... Cheah P.Y. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (PubMed id 11536076)1, 2 Zhou X.-P.... Eng C. (2001)

    External Searches for BMPR1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing BMPR1A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 657 HGNC: 1076 AceView: BMPR1A Ensembl:ENSG00000107779 euGenes: HUgn657
    ECgene: BMPR1A Kegg: 657 H-InvDB: BMPR1A

    Other Databases showing BMPR1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BMPR1A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/BMPR1A

    Intellectual Property
    for BMPR1A gene

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

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