Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PFN2 contributors: mct - updated : 19-06-2013
HGNC name profilin 2
HGNC id 8882
DNA
TYPE functioning gene
STRUCTURE 6.05 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D3S661 - D3S1555 - D3S1308 - D3S2401 - PFN2 - D3S1299 - D3S2625 - D3S1594 - D3S1279 - qter
Authors Joensuu (96)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 2117 - 140 - Xu
PFN2a
3 - 1795 - 140 - Xu
PFN2b
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
 pancreas   highly
Nervousbrain   highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatum  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
binding to prolin rich motifs
HOMOLOGY
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytoskeleton
basic FUNCTION
  • involved in SMN mutations
  • actin binding proteins essential for regulating cytoskeletal dynamics
  • required for actin polymerization in the synapse, possibly through a pathway that involves the WAVE-complex
  • neuron specific, it provides an excellent target to regulate actin polymerization in the synapse and thereby modulate neurotransmitter homeostasis
  • key regulator of the actin microfilament system and in neuronal tissues
  • functional role for both profilins (PFN1, PFN2) in neuronal nuclei
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS behavioral , nervous system
    text profilin2-dependent pathway, regulating synaptic physiology, neuronal excitability, and complex behavior
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SMN
  • binds to the neuronal protein palladin, including a synthetic palladin peptide
  • G-actin binding protein,preventing its polymerization to F-actin
  • SMN1 is directly interacting with profilin2a (PFN2 binds to a stretch of proline residues in SMN, which is heavily impaired by a novel SMN2 missense mutation)
  • directly interacts with ROCK1, a key player in actin regulation and neuronal differentiation
  • directly and specifically binds to the C-terminal domain of GRIK2 through a diproline motif
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS