Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ACVR2A contributors: mct/npt - updated : 01-10-2014
HGNC name activin A receptor, type IIA
HGNC id 173
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 5263 57.8 513 - 1999 10702675
12 - 5374 57.8 513 - 1999 10702675
11 - 5177 - 405 - 1999 10702675
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
Endocrineparathyroid   highly
Nervousbrain    
Reproductivefemale systemovary   
cell lineage trophoblast cells
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text pregnancy
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