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FLASH GENE
Symbol PFN2 contributors: mct - updated : 19-06-2013
HGNC name profilin 2
HGNC id 8882
Location 3q25.1      Physical location : 149.682.690 - 149.688.741
Synonym symbol(s) D3S1319E, PFL
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)
Physical map
LOC344741 3q24 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC389159 3 LOC389159 RPL38P1 3q21-q25 ribosomal protein L38 pseudogene 1 AGTR1 3q21-q25 angiotensin II receptor, type 1 CPB1 7p14-p13 carboxypeptidase B1 (tissue) CPA3 3q21-q25 carboxypeptidase A3 (mast cell) LOC285329 3q24 similar to Ataxin-1 ubiquitin-like interacting protein GYG 3q24 glycogenin SMARCA3 3q25.1-q26.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 HPS3 3q24-q25.1 Hermansky-Pudlak syndrome 3 CP 3q23-q25 ceruloplasmin (ferroxidase) LOC389160 3 LOC389160 LOC116441 3q24 hypothetical protein BC014339 TM4SF1 3q21-q25 transmembrane 4 superfamily member 1 TM4SF4 3q25 transmembrane 4 superfamily member 4 TAZ Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) LOC51122 3q25.1 HSPC042 protein LOC389161 3 hypothetical gene supported by AK027233 LOC389162 3 LOC389162 LOC389163 3 hypothetical gene supported by AK098078 RNF13 3q25.1 ring finger protein 13 PFN2 3q25.1-q25.2 profilin 2 LOC389164 3 similar to Chromosome 1 open reading frame 37 LOC391587 3 similar to peptidyl-Pro cis trans isomerase LOC389165 3 hypothetical gene supported by AF090923; AK023388; BC002719 LOC389166 3 LOC389166 KIAA0669 3q25.1-q25.2 LOC389166 SERP1 3q25.1 stress-associated endoplasmic reticulum protein 1 eIF2A 3q25.1 eukaryotic translation initiation factor (eIF) 2A SELT 3q25.1 selenoprotein T MGC39662 3q25.1 hypothetical protein MGC39662 LOC391588 3 similar to U1 small nuclear ribonucleoprotein C (U1-C) SIAH2 3q25 seven in absentia homolog 2 (Drosophila) LOC389167 3 LOC389167 USH3A 3q21-q25 Usher syndrome 3A TRALPUSH 3q25.1 TRALPUSH H963 3q25.1 TRALPUSH GPR105 3q21-q25 G protein-coupled receptor 105 GPR87 3q24 G protein-coupled receptor 87 GPR86 3q24 G protein-coupled receptor 86 P2RY12 3q24-q25 purinergic receptor P2Y, G-protein coupled, 12 FLJ25972 3q25.1 hypothetical protein FLJ25972 LOC344752 3q25.1 similar to Arylacetamide deacetylase LOC201651 3q25.1 similar to esterase/N-deacetylase (EC 3.5.1.-), 50K hepatic - rabbit
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