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FLASH GENE
Symbol ACVR2A contributors: mct/npt - updated : 01-10-2014
HGNC name activin A receptor, type IIA
HGNC id 173
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • transmembrane receptor with a small cysteine-rich extracellular region
  • a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
  • a cytoplasmic serine/threonine kinase domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • protein kinase superfamily
  • TKL Ser/Thr protein kinase family
  • TGFB receptor subfamily
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved with ACVR2B in regulating muscle mass
  • is a Th17 specific gene making Th17 cells distinct from other helper T cells, Th1, Th2, and Treg
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    transducing signals from NODAL
    a component
  • forming a stable complex with type I receptor after ligand binding
  • forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activating MADH2, MADH4, FOXH1
  • interacts with AIP1
  • coordinated activity of ACVR2A and BMPR2 receptor subunits selectively mediates potentially the chemotactic response to BMP7
  • stimulates SMAD1 activation in a kinase-dependent manner, and this is required for suppression of invasion
  • ACVR2A and and BMPR2 physically interact, and each also interacts with endoglin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of ACVR2A, ACVR2B, and FST in the endometrium may play a role in adenomyosis-related infertility
    Susceptibility to preeclampsia
    Variant & Polymorphism SNP increasing the risk of preeclampsia (Roten 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS