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FLASH GENE
Symbol ACVR2B contributors: shn - updated : 30-01-2014
HGNC name activin A receptor, type IIB
HGNC id 174
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand-binding extracellular domain with cysteine-rich region
  • a transmembrane domain
  • a cytoplasmic domain with predicted serine/threonine specificity
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to Acvr2b, Rattus norvegicus
    ortholog to Acvr2b, Mus musculus
    ortholog to ACVR2B, Pan troglodytes
    ortholog to acvr2b, Danio rerio
    Homologene
    FAMILY
  • transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins
    • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text transmembrane protein
    basic FUNCTION
  • stimulating FSH secretion
  • potent myostatin inhibitor, which can cause dramatic increases in muscle mass
  • lays a critical role in patterning both anteroposterior and left-right axes in vertebrate animals
  • regulate the axial formation and the development of foregut-derived organs
  • with SMAD2 function in the same signaling pathway to regulate axial patterning and pancreas islet formation by means of a threshold mechanism
  • type II TGF-beta serine/threonine kinase receptor, integral to the activin and myostatin signaling pathway
  • myostatin-related genes involved in the regulation and signaling of myostatin
  • key regulator of skeletal muscle mass development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text playing a critical role in patterning both anteroposterior and left-right axes
    PATHWAY
    metabolism
    signaling
    a component
  • forming a stable complex with type I receptor after ligand binding
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activin A receptor type 1B, ActR-IB
  • BMP7 and activin
  • sorting nexin 6, SNX6
  • C-terminal myostatin dimer
  • Postsynaptic density 95/Discs large/Zona occludens-1 (PDZ) protein
  • GDF-8 and GDF-11 bind the extracellular domain of ActRIIB
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTX4
    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
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    ActRIIB-/- mice have randomized heart position, malposition of the great arteres ventricular and atrial septal defects as well as right pulmonary isomerism and splenic abnormalities