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FLASH GENE
Symbol ASB2 contributors: mct - updated : 02-06-2021
HGNC name ankyrin repeat and SOCS box-containing 2
HGNC id 16012
Location 14q32.12      Physical location : 94.400.512 - 94.423.767
Synonym name
  • ankyrin repeat-containing protein ASB-2
  • ankyrin repeat and SOCS box-containing protein 2a
  • Synonym symbol(s) ASB-2, MGC40044, ASB2A
    DNA
    TYPE functioning gene
    STRUCTURE 42.58 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2608 - 635 - 2005 5590664
    8 - 2369 - 587 - 2005 5590664
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   highly Mus musculusFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • fifteen N terminal ankyrin (ANK) repeats
  • a conserved C-terminal SOCS box motif
  • HOMOLOGY
    interspecies ortholog to murine Asb2
    Homologene
    FAMILY
  • ankyrin repeat and SOCS box-containing (ASB) family of proteins
  • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • inhibits cytokine signaling
  • neither endogenous nor exogenously expressed ASB2 induces degradation of JAK proteins in hematopoietic cells
  • is a critical regulator of cell spreading and podosome rosette formation in immature dendritic cells (DCs)
  • regulates hematopoietic cell differentiation by modulating cell adhesion, spreading, and actin remodeling through targeted degradation of filamins
  • FLNA is known to play roles in cytoskeleton organization and to be required for heart function, and its degradation mediated by ASB2 ensures essential functions in differentiating cardiac progenitors
  • ASB2 requirement for embryonic survival and complete heart looping, and for human cardiomyocyte differentiation
  • CELLULAR PROCESS protein, post translation
    protein, degradation
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    intracellular signaling cascade
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • JAK kinases
  • activated cytokine receptors
  • elonguin B/C complex
  • ASB2 likely binds JAK2 directly but associates with E2A through SKP2
  • FLNA, FLNB but not Janus kinases are substrates of the ASB2 cullin-ring E3 ubiquitin ligase in hematopoietic cells
  • cell & other
    REGULATION
    induced by cytokines
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    loss of ASB2 impairs cardiomyocyte differentiation and leads to congenital double outlet right ventricle
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Asb2 knockout mice have placental defects, that subsequently result in failure to form a normal cardiac septum, and thereby result in embryo mortality