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FLASH GENE
Symbol BMPR1B contributors: mct - updated : 04-04-2018
HGNC name bone morphogenetic protein receptor, type IB
HGNC id 1077
Corresponding disease
AMDHG acromesomelic chondrodysplasia and hypogonadism
BDA2 brachydactyly type A2, locus A2
BDC3 brachydactyly type C3
Location 4q22.3      Physical location : 95.679.127 - 96.079.592
Synonym name
  • serine/threonine receptor kinase
  • activin receptor-like kinase-6
  • Synonym symbol(s) ALK-6, ALK6, CDw293, AMDD, BDA1D, BDA2
    EC.number 2.7.11.30
    DNA
    TYPE functioning gene
    STRUCTURE 400.48 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D4S1544 - BMPR1B - D4S1578 - D4S421 - qter
    Authors Ide (98)
    RNA
    TRANSCRIPTS type messenger
    text two transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 5456 - 502 - 2017 28357470
    13 - 5560 - 502 - 2017 28357470
    11 - 5397 - 532 - 2017 28357470
    11 - 5440 - 502 - 2017 28357470
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Nervousbrain    
    Reproductivefemale systembreastmammary gland highly
     male systemprostate  predominantly
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text chick limb development, trabecular meshwork
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a small cysteine-rich extracellular ligand binding domain
  • a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
  • a cytoplasmic serine/threonine kinase domain
  • a NANDOR domain at the C terminus (non-activating, non-down regulating box)
  • conjugated HemoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Bmpr1b
    intraspecies homolog to ACVR1
    Homologene
    FAMILY
  • TGFBR superfamily
  • ser/thr family of protein kinases
  • CATEGORY receptor membrane serine/threonine
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • required for signal transduction
  • involved in protein amino acid phosphorylation
  • playing a role in regulation of skeletogenesis and in the initial steps of cartilage condensation
  • having a overlapping function with BMPR1A in early chondrogenesis
  • playing a role in genital development and in ovarian function
  • playing a key role in the mitosis as well as intracellular BMP signaling of pulmonary arterial smooth muscle cell (pphPASMC)
  • has a novel role modulating the activity of the actin-severing protein cofilin
  • BMPR1B plays distinct roles from BMPR1A and ACVR1 in maintaining bone mass and transducing BMP signaling
  • CELLULAR PROCESS cell life, cell death/apoptosis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text
  • initial step of chondrogenesis
  • activated BMPR1B increases apoptosis
  • PATHWAY
    metabolism
    signaling signal transduction
    a component complexing with BMPR2
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding members of TGF-beta superfamily activating Smad proteins (MADH1, MADH5, MADH8)
  • ACVR1 is required for chondrocyte proliferation and differentiation, particularly in craniofacial and axial elements, but exerts coordinated functions with both BMPR1A and BMPR1B throughout the developing endochondral skeleton
  • STK11 negatively regulates BMPR1A, BMPR1B signaling
  • cell & other
    REGULATION
    activated by BMPR2
    Other induced and increased importantly during early osteoblastic differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s) BDA2 , AMDHG , BDC3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in pulmonary arterial smooth muscle cells from primary pulmonary hypertension
    constitutional germinal mutation     loss of function
    causes Pierre Robin sequence
    constitutional       loss of function
    of BMP receptor signalling may inhibit the normal steroidogenic differentiation required for maturation in older patients
    Susceptibility to acromesomelic chondrodysplasia, Hunter-Thompson type
    Variant & Polymorphism other
  • homozygous missense variant (c.1190T > G, p.Met397Arg) that segregates with acromesomelic chondrodysplasia, Hunter-Thompson type
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS