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Aliases for PFN2 Gene

Aliases for PFN2 Gene

  • Profilin 2 2 3 5
  • Profilin II 3 4
  • Profilin-2 3
  • 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. Among its related pathways are Non-Canonical Wnt Pathway and Developmental Biology. GO annotations related to this gene include actin binding and actin monomer binding. An important paralog of this gene is PFN1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFN2 Gene

Genomics for PFN2 Gene

Regulatory Elements for PFN2 Gene

Enhancers for PFN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G149811 1.5 FANTOM5 ENCODE 25.3 +235.9 235927 5.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 PFN2 RNF13 COMMD2 RNU6-720P
GH03G150146 1.3 FANTOM5 Ensembl ENCODE 16.6 -97.7 -97746 4.4 ZNF507 IRF9 ZNF316 CTBP1 NFE2 FOS ZNF740 NR2F1 BHLHE40 MNT PFN2 LINC01998 ENSG00000242791 ANKUB1 RPL32P9 LOC105374313
GH03G150093 1.3 ENCODE dbSUPER 11.6 -43.7 -43747 1.6 HDGF PKNOX1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS SNRPCP3 LOC730021 PFN2 ENSG00000242791 ANKUB1 MED12L LOC105374313 RPL32P9
GH03G150248 1.4 FANTOM5 Ensembl ENCODE 10.4 -198.6 -198624 2.7 CTCF PKNOX1 SIN3A CEBPG RAD21 ARID3A POLR2A SMC3 MAFK GATAD2A PFN2 ANKUB1 ENSG00000242791 ENSG00000278234 LOC105374154
GH03G150183 1.2 Ensembl ENCODE 11.8 -133.6 -133561 1.3 FOXA2 WRNIP1 ARID4B ZNF48 RAD21 SLC30A9 GATA2 EGR1 ZNF366 ZNF143 PFN2 ENSG00000242791 ANKUB1 GC03P150194 RPL32P9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PFN2 on UCSC Golden Path with GeneCards custom track

Promoters for PFN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000160058 554 3601 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 ZNF207

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

Post-translational modifications for PFN2 Gene

  • Ubiquitination at posLast=127127
  • Modification sites at PhosphoSitePlus

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 --
GO:0003785 actin monomer binding IPI 7758455
GO:0005515 protein binding IPI 9822597
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 7758455
GO:0016887 ATPase activity IDA 7758455
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

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFN2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 3

Gene Ontology (GO) - Cellular Components for PFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IEA --
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043195 terminal bouton 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:0010633 negative regulation of epithelial cell migration IMP 23153535
GO:0030036 actin cytoskeleton organization IEA --
GO:0030833 regulation of actin filament polymerization IEA --
GO:0030837 negative regulation of actin filament polymerization IDA 7758455
GO:0030838 positive regulation of actin filament polymerization IGI 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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PFN2 Gene



Protein tissue co-expression partners for PFN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PFN2 Gene:

PFN2

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.

Evidence on tissue expression from TISSUES for PFN2 Gene

  • Nervous system(5)
  • Lung(4.4)
  • Pancreas(3.1)
  • Eye(2.3)
  • Kidney(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PFN2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PFN2 Gene

Orthologs for PFN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PFN2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia PFN2 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PFN2 34 35
  • 99.76 (n)
cow
(Bos Taurus)
Mammalia PFN2 34 35
  • 97.14 (n)
mouse
(Mus musculus)
Mammalia Pfn2 34 16 35
  • 96.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PFN2 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100909840 34
  • 94.76 (n)
oppossum
(Monodelphis domestica)
Mammalia PFN2 35
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFN2 34 35
  • 90.95 (n)
lizard
(Anolis carolinensis)
Reptilia PFN2 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfn2 34
  • 78.1 (n)
Str.1397 34
African clawed frog
(Xenopus laevis)
Amphibia pfn2-prov 34
zebrafish
(Danio rerio)
Actinopterygii pfn2l 34 35
  • 79.56 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10738 34
Species where no ortholog for PFN2 was found in the sources mined by GeneCards:
  • 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
rs1001019125 -- 149,971,732(+) CAGGA(A/C)CCTTG nc-transcript-variant, upstream-variant-2KB
rs1001533617 -- 149,972,075(+) GGTAG(A/G)GTGCC nc-transcript-variant, upstream-variant-2KB
rs1001692797 -- 149,970,073(+) ACCTA(C/T)AGAGC intron-variant, upstream-variant-2KB
rs1002136514 -- 149,971,250(+) GAAGG(A/G)CGGGG upstream-variant-2KB
rs1002185213 -- 149,965,520(+) GCCAT(A/T)GCACT 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

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFN2

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

Disorders for PFN2 Gene

Relevant External Links for PFN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFN2

No disorders were found for PFN2 Gene.

No data available for MalaCards , 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 22 64
  2. 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 4 22 64
  3. Distinct biochemical characteristics of the two human profilin isoforms. (PMID: 7758455) Gieselmann R. … Witke W. (Eur. J. Biochem. 1995) 3 4 22 64
  4. 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 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PFN2 Gene

Sources for PFN2 Gene

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