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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
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