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FLASH GENE
Symbol AP2S1 contributors: mct - updated : 24-01-2023
HGNC name adaptor-related protein complex 2, sigma 1 subunit
HGNC id 565
Corresponding disease
HHC3 benign hypercalcemia, hypocalciuric, familial, type III
Location 19q13.32      Physical location : 47.341.422 - 47.354.203
Synonym name
  • clathrin adaptor polypeptide, assembly protein complex, small chain 2
  • clathrin coat assembly protein AP17
  • plasma membrane adaptor AP-2 17 kDa protein
  • sigma-2
  • sigma2-adaptin
  • Synonym symbol(s) CLAPS2, AP17, AP17-DELTA, FBH3, FBHOk, HHC3
    DNA
    TYPE functioning gene
    STRUCTURE 12.68 kb     4 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
    5 splicing 789 17 142 - 2023 36412210
  • AP17
  • 4 splicing 675 12 104 - 2023 36412210
  • AP17 delta
  • 5 - 831 - 156 - 2023 36412210
    5 - 897 - 144 - 2023 36412210
    5 - 887 - 158 - 2023 36412210
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivestomach   highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
  • cultured leukemia cells
  • fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY clathrin adaptor complexes small chain proteins family
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    text cytoplasmic face of coated vesicles
    basic FUNCTION
  • component of the adaptor complexes which link clathrin to receptors in coated vesicles
  • plays a role in the internalization of membrane proteins, including GPCRs
  • has a fundamental role in clathrin&
  • 8208;mediated endocytosis of G&
    8208;protein–coupled receptors (GPCR) such as the CASR
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • small chain component of the major clathrin adaptor complex AP2
  • heterotetramer composed of two large adaptins
  • (alpha1A/AP2A1 or alpha1B/AP2A1 or alpha2/AP2A2 and beta1/AP2B1), a medium adaptin (mu2/AP2M1) and
    a small adaptin (sigma2long/AP2S1 or sigma2short/AP2S1)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHC3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS