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Aliases for PFN2 Gene

Aliases for PFN2 Gene

  • Profilin 2 2 3 5
  • Profilin II 3 4
  • D3S1319E 3
  • PFL 3

External Ids for PFN2 Gene

Previous GeneCards Identifiers for PFN2 Gene

  • GC03M146612
  • GC03M150567
  • GC03M150964
  • GC03M151003
  • GC03M151165
  • GC03M149682
  • GC03M147055

Summaries for PFN2 Gene

Entrez Gene Summary for PFN2 Gene

  • 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 encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PFN2 Gene

PFN2 (Profilin 2) is a Protein Coding gene. Diseases associated with PFN2 include allergic hypersensitivity disease and nasal cavity disease. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include actin binding and actin monomer binding. An important paralog of this gene is PFN3.

UniProtKB/Swiss-Prot for PFN2 Gene

  • Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG.

Gene Wiki entry for PFN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFN2 Gene

Genomics for PFN2 Gene

Regulatory Elements for PFN2 Gene

Genomic Location for PFN2 Gene

Chromosome:
3
Start:
149,964,904 bp from pter
End:
150,050,788 bp from pter
Size:
85,885 bases
Orientation:
Minus strand

Genomic View for PFN2 Gene

Genes around PFN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFN2 Gene

Proteins for PFN2 Gene

  • Protein details for PFN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35080-PROF2_HUMAN
    Recommended name:
    Profilin-2
    Protein Accession:
    P35080
    Secondary Accessions:
    • B2R4C8
    • D3DNI4
    • Q4VBQ4
    • Q8WVF9
    • Q9HBK2

    Protein attributes for PFN2 Gene

    Size:
    140 amino acids
    Molecular mass:
    15046 Da
    Quaternary structure:
    • Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio (PubMed:7758455). Interacts with PFN2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PFN2 Gene

    Alternative splice isoforms for PFN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFN2 Gene

Proteomics data for PFN2 Gene at MOPED

Post-translational modifications for PFN2 Gene

  • Ubiquitination at Lys 127
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PFN2 Gene

Domains & Families for PFN2 Gene

Protein Domains for PFN2 Gene

Suggested Antigen Peptide Sequences for PFN2 Gene

Graphical View of Domain Structure for InterPro Entry

P35080

UniProtKB/Swiss-Prot:

PROF2_HUMAN :
  • Belongs to the profilin family.
Family:
  • Belongs to the profilin family.
genes like me logo Genes that share domains with PFN2: view

No data available for Gene Families for PFN2 Gene

Function for PFN2 Gene

Molecular function for PFN2 Gene

UniProtKB/Swiss-Prot Function:
Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG.

Gene Ontology (GO) - Molecular Function for PFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with PFN2: view
genes like me logo Genes that share phenotypes with PFN2: view

Animal Models for PFN2 Gene

MGI Knock Outs for PFN2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PFN2 Gene

Localization for PFN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFN2 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PFN2 Gene COMPARTMENTS Subcellular localization image for PFN2 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 4
plasma membrane 2
endosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PFN2: view

Pathways & Interactions for PFN2 Gene

genes like me logo Genes that share pathways with PFN2: view

Gene Ontology (GO) - Biological Process for PFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030833 regulation of actin filament polymerization IEA --
GO:0030837 negative regulation of actin filament polymerization IEA,IDA 7758455
GO:0030838 positive regulation of actin filament polymerization IEA,IGI 23153535
GO:0032781 positive regulation of ATPase activity IDA 7758455
GO:0033138 positive regulation of peptidyl-serine phosphorylation IEA,IMP 23153535
genes like me logo Genes that share ontologies with PFN2: view

No data available for SIGNOR curated interactions for PFN2 Gene

Drugs & Compounds for PFN2 Gene

(3) Drugs for PFN2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-(2-Methoxy-Ethoxy)-2-{2-[2-(2-Methoxy-Ethoxy]-Ethoxy}-Ethane Experimental Pharma Target 0
1-Methoxy-2-[2-(2-Methoxy-Ethoxy]-Ethane Experimental Pharma Target 0
genes like me logo Genes that share compounds with PFN2: view

Transcripts for PFN2 Gene

Unigene Clusters for PFN2 Gene

Profilin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PFN2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b · 7c · 7d · 7e ^
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - - -
SP9: - - -
SP10: - - - - - - - - -
SP11: - -
SP12: - -
SP13: - - -

ExUns: 8
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PFN2 Gene

GeneLoc Exon Structure for
PFN2
ECgene alternative splicing isoforms for
PFN2

Expression for PFN2 Gene

mRNA expression in normal human tissues for PFN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFN2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6) and Brain - Anterior cingulate cortex (BA24) (x4.3).

Protein differential expression in normal tissues from HIPED for PFN2 Gene

This gene is overexpressed in Fetal Brain (10.6), Brain (8.9), and Nasal epithelium (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PFN2 Gene



SOURCE GeneReport for Unigene cluster for PFN2 Gene Hs.91747

mRNA Expression by UniProt/SwissProt for PFN2 Gene

P35080-PROF2_HUMAN
Tissue specificity: Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta, lung and liver.
genes like me logo Genes that share expression patterns with PFN2: view

Protein tissue co-expression partners for PFN2 Gene

Primer Products

In Situ Assay Products

Orthologs for PFN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PFN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFN2 35
  • 99.76 (n)
  • 100 (a)
PFN2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PFN2 36
  • 99 (a)
OneToOne
PFN2 35
  • 97.14 (n)
  • 99.29 (a)
dog
(Canis familiaris)
Mammalia PFN2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfn2 16
Pfn2 36
  • 99 (a)
OneToOne
Pfn2 35
  • 96.19 (n)
  • 99.29 (a)
oppossum
(Monodelphis domestica)
Mammalia PFN2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFN2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100909840 35
  • 94.76 (n)
  • 96.43 (a)
chicken
(Gallus gallus)
Aves PFN2 36
  • 99 (a)
OneToOne
PFN2 35
  • 90.95 (n)
  • 98.57 (a)
lizard
(Anolis carolinensis)
Reptilia PFN2 36
  • 99 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pfn2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pfn2 35
  • 78.1 (n)
  • 80 (a)
Str.1397 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10738 35
zebrafish
(Danio rerio)
Actinopterygii pfn2l 36
  • 81 (a)
OneToOne
pfn2l 35
  • 79.56 (n)
  • 82.48 (a)
Species with no ortholog for PFN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PFN2 Gene

ENSEMBL:
Gene Tree for PFN2 (if available)
TreeFam:
Gene Tree for PFN2 (if available)

Paralogs for PFN2 Gene

Paralogs for PFN2 Gene

Pseudogenes.org Pseudogenes for PFN2 Gene

genes like me logo Genes that share paralogs with PFN2: view

Variants for PFN2 Gene

Sequence variations from dbSNP and Humsavar for PFN2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1052368 -- 149,964,945(-) TAAAC(A/C)CCTTG utr-variant-3-prime
rs2305855 -- 149,968,289(+) CAAAA(C/T)GTTAA intron-variant
rs4425205 -- 149,968,720(+) AATTA(C/T)TTAAT intron-variant
rs10550200 -- 149,966,959(+) GGGAG(-/TTAC)TTACT intron-variant
rs12632341 -- 149,965,854(+) GGCAC(C/T)TTGCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PFN2 Gene

Variant ID Type Subtype PubMed ID
esv34142 CNV Loss 18971310
nsv877643 CNV Gain 21882294

Variation tolerance for PFN2 Gene

Residual Variation Intolerance Score: 38.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFN2 Gene

HapMap Linkage Disequilibrium report
PFN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFN2 Gene

Disorders for PFN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PFN2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
allergic hypersensitivity disease
  • allergic disease
nasal cavity disease
  • disorder of nasal cavity
nose disease
  • disorder of the nose
nut allergy
  • allergy to nuts
upper respiratory tract disease
- elite association - COSMIC cancer census association via MalaCards
Search PFN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PFN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFN2
genes like me logo Genes that share disorders with PFN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFN2 Gene

Publications for PFN2 Gene

  1. Cloning and expression of a novel human profilin variant, profilin II. (PMID: 8365484) Honore B. … Leffers H. (FEBS Lett. 1993) 2 3 4 23 67
  2. Identification of Rgl3 as a potential binding partner for Rap-family small G-proteins and profilin II. (PMID: 17382517) Xu J. … Kitayama H. (Cell. Signal. 2007) 3 23
  3. X-ray structure determination of human profilin II: a comparative structural analysis of human profilins. (PMID: 10600384) Nodelman I.M. … Schutt C.E. (J. Mol. Biol. 1999) 3 23
  4. Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. (PMID: 8975700) Joensuu T. … Sankila E.M. (Genomics 1996) 2 3
  5. Distinct biochemical characteristics of the two human profilin isoforms. (PMID: 7758455) Gieselmann R. … Witke W. (Eur. J. Biochem. 1995) 3 23

Products for PFN2 Gene

Sources for PFN2 Gene

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