• Gene id: 5217

Gene Summary

• Gene Symbol: PFN2   Gene   UCSC   Ensembl
• Aliases: D3S1319E, PFL
• Gene name: profilin 2
• Alternate names: profilin-2, profilin II,
• Gene location: 3q25.1 (73490932: 73493393)     Exons: 1     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants e
• OMIM: 176590

Protein Summary

• Protein general information: P35080  
  • Name: Profilin 2 (Profilin II)
  • Length: 140  
  • Mass: 15046
  • Tissue specificity: Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta, lung and liver.
• Sequence:

  MAGWQSYVDNLMCDGCCQEAAIVGYCDAKYVWAATAGGVFQSITPIEIDMIVGKDREGFFTNGLTLGAKKCSVIR
  DSLYVDGDCTMDIRTKSQGGEPTYNVAVGRAGRVLVFVMGKEGVHGGGLNKKAYSMAKYLRDSGF

• Structural information:
  • Interpro: IPR005455  IPR029891  IPR036140  IPR005454  IPR027310  
  • Prosite: PS00414
  • CDD: cd00148
  • PDB: 1D1J
  • PDBsum: 1D1J
  • STRING: ENSP00000239940
• Other Databases: GeneCards:  PFN2  Malacards:  PFN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IBA	molecular function
GO:0032233	positive regulation of actin filament bundle assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0030833	regulation of actin filament polymerization	IBA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098885	modification of postsynaptic actin cytoskeleton	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0051496	positive regulation of stress fiber assembly	IEA	biological process
GO:1900028	negative regulation of ruffle assembly	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0010633	negative regulation of epithelial cell migration	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0030837	negative regulation of actin filament polymerization	IDA	biological process
GO:0032781	positive regulation of ATPase activity	IDA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0050821	protein stabilization	IDA	biological process
GO:0032233	positive regulation of actin filament bundle assembly	IMP	biological process
GO:0003785	actin monomer binding	IPI	molecular function
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IMP	biological process
GO:0030838	positive regulation of actin filament polymerization	IGI	biological process
GO:0010633	negative regulation of epithelial cell migration	IMP	biological process
GO:1900028	negative regulation of ruffle assembly	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa05132	Salmonella infection
hsa04015	Rap1 signaling pathway

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq