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FLASH GENE
Symbol ACVR2B contributors: shn - updated : 30-01-2014
HGNC name activin A receptor, type IIB
HGNC id 174
Corresponding disease
HTX4 abnormal left-right axis with heterotaxy (situs ambiguus), 4
Location 3p22.2      Physical location : 38.495.789 - 38.534.631
Synonym name activin receptor type-2B
Synonym symbol(s) ACTR2B, MGC116908, ActR-IIB
EC.number 2.7.11.30
DNA
TYPE functioning gene
STRUCTURE 38.84 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D3S3639 - D3S1260 - ACVR2B - D3S3521 - D3S3572 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 11373 - 512 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveintestinesmall intestine   
Reproductivefemale systemplacenta   
 male systemprostate   
cell lineage
cell lines
fluid/secretion
at STAGE
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