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FLASH GENE
Symbol PACSIN2 contributors: mct/npt/pgu - updated : 22-01-2020
HGNC name protein kinase C and casein kinase substrate in neurons 2
HGNC id 8571
Location 22q13.2      Physical location : 43.265.771 - 43.411.184
Synonym name
  • syndapin II
  • protein kinase C and casein kinase substrate in neurons 2
  • Synonym symbol(s) PAC2, SDPII
    DNA
    TYPE functioning gene
    STRUCTURE 76.11 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2171 - 486 - 2016 27417273
    10 - 3049 - 406 - 2016 27417273
    11 - 3186 - 447 - 2016 27417273
    12 - 3309 - 488 - 2016 27417273
    11 - 3251 - 486 - 2016 27417273
    12 - 3328 - 488 - 2016 27417273
    11 - 3358 - 447 - 2016 27417273
    10 - 3107 - 445 - 2016 27417273
    11 - 3113 - 447 - 2016 27417273
    11 - 3124 - 447 - 2016 27417273
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouth   highly
    Nervousnervecranial nerve  highly
    Skin/Tegumentskin   highly
    Urinarykidneyjuxtaglomerulus apparatus    Homo sapiensAdult
     kidneynephronrenal capsule   Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a F-BAR domain, located in its N-terminal region, mediates membrane binding and is involved in homo- and hetero-oligomerization
  • hydrophobic loops and the basic AAs on the concave surface of the EFC/F-BAR domain are essential for both the microspike formation and tubulation , and F-BAR domain interacts directly with caveolin-1 by unmasking autoinhibition of PACSIN2
  • one FCH domain
  • a SH3 domain at the C terminus, SH3 domain-mediated autoregulation of the membrane-deforming activity of F-BAR domains that is of crucial importance for its function
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Pacsin2
    Homologene
    FAMILY
  • PACSIN family
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text localized to the plasma membrane via its coiled-coil domain
    basic FUNCTION
  • cytoplasmic adaptor protein
  • cytoplasmic phosphoproteins that play a role in vesicle formation and transport
  • in addition to a crucial role in endocytic internalization, complexes with EHDs play an important role in endocytic receptor recycling
  • participate in cellular membrane trafficking, in regulation of dynamin-mediated endocytotic processes and have been shown to generate membrane tubules
  • may control other proteins during development
  • may regulate gastrulation by controlling the population of activated alpha5beta1 integrin and cytoskeleton strength during cell movement
  • function in dynamic microtubuli nucleation
  • intracellular adapter protein involved in vesicle transport, membrane dynamics and actin reorganisation
  • novel function for PACSIN1, PACSIN2, PACSIN3 in dynamic microtubuli nucleation
  • regulates cell spreading and migration, which are dependent on CCND1 expression
  • mediates membrane sculpting by caveolin-1 in caveola morphology and recruits dynamin-2 for caveola fission
  • PACSIN2 acts as negative regulator of EGF receptor signaling
  • is a key regulator of growth factor signaling in epithelial and in endothelial cells, regulating growth factor receptor surface levels and downstream signaling
  • PACSIN2 contributes to kidney development and repair in a nephron-specific manner
  • F-BAR domain protein, able to associate with actin filaments using the same concave surface employed to bind to membranes, while some other tested N-BAR and F-BAR proteins (endophilin, CIP4 and FCHO2) do not associate with actin
  • PACSIN2 at caveolae stabilizes caveolae, but its removal by phosphorylation could induce both caveolar endocytosis and flattening.
  • new role for the F-BAR protein PACSIN2 in the control of CDH5-based endothelial adhesion
  • through its role in promoting apical endocytosis, PACSIN2 plays a role in controlling microvillar morphology
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text organization of actin cytoskeleton
    PATHWAY
    metabolism
    signaling
    a component
  • compexing with EHD1, EHD2
  • components of the centrosome involved in microtubule dynamics
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • actin
  • negative regulator of ADAM13 proteolytic function
  • directly bound wild-type cyclin D1 (CCND1a) at the carboxyl terminus, and failed to bind CCND1b, the alternative splicing variant of cyclin D1
  • wedge loop of PACSIN3 is more rigid as PACSIN1, PACSIN2, which influences the lateral interactions between assembled dimers
  • negatively regulates EGF receptor phosphorylation and activation
  • regulates growth factor receptor surface expression, thereby controlling receptor output
  • FLNA-PACSIN2 interaction regulates membrane tubulation in megakaryocyte (MK) and platelets and likely contributes to demarcation membrane system (DMS)formation
  • new role for PACSIN2 in the control of CDH5-based endothelial adhesion
  • accelerates nephrin trafficking and is up-regulated in diabetic kidney disease
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Pacsin 2 is required for the maintenance of a normal cardiac function in the developing mouse heart