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] See more...

Aliases for PFN2 Gene

Aliases for PFN2 Gene

  • Profilin 2 2 3 5
  • Profilin II 3 4
  • Profilin-2 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 Tinea Imbricata and Usher Syndrome. Among its related pathways are Signaling by Robo receptor and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include actin binding and actin monomer binding. An important paralog of this gene is PFN1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PFN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFN2 Gene

Genomics for PFN2 Gene

GeneHancer (GH) Regulatory Elements for PFN2 Gene

Promoters and enhancers for PFN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J149967 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.3 +80.9 80888 7.4 HNRNPK EP300 CTCF SIN3A MYC POLR2G USF1 NCOR1 PHF8 TEAD4 PFN2 ANKUB1 LOC646903 lnc-ANKUB1-2 EIF2A ENSG00000242791 SIAH2-AS1 HPS3 TM4SF1-AS1 WWTR1-IT1
GH03J149965 Promoter 0.3 EPDnew 500.2 +84.8 84838 0.1 PFN2 LINC01998 ANKUB1 lnc-ANKUB1-2 LOC105374152
GH03J149811 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 25.3 +235.6 235587 6.8 FOXK2 ZBTB40 ZNF217 SIN3A TCF12 USF1 POLR2G SP1 RBAK PHF8 RNF13 PFN2 ENSG00000242791 COMMD2 lnc-RNF13-4 piR-38051-192 ANKUB1 lnc-ANKUB1-2
GH03J149085 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 14.1 +964.8 964788 2.8 ZNF217 EP300 NRF1 MYC TCF12 POLR2G SP1 GTF2E2 PHF8 PHB2 HLTF HLTF-AS1 lnc-CP-2 PFN2 lnc-CP-3
GH03J150145 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 16.8 -97.6 -97613 5.6 ZNF217 FOS CTBP1 RBM25 BCL11A NR3C1 BATF IRF4 JUND NR2F1 PFN2 LINC01998 ENSG00000242791 ANKUB1 RPL32P9 LOC105374313 ENSG00000243944
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PFN2

Top Transcription factor binding sites by QIAGEN in the PFN2 gene promoter:
  • c-Ets-1
  • Lmo2
  • Nkx2-5
  • Oct-B1
  • oct-B2
  • oct-B3
  • p53
  • POU2F1
  • YY1

Genomic Locations for PFN2 Gene

Genomic Locations for PFN2 Gene
chr3:149,964,904-150,050,788
(GRCh38/hg38)
Size:
85,885 bases
Orientation:
Minus strand
chr3:149,682,691-149,768,575
(GRCh37/hg19)
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PFN2 Gene

Domains & Families for PFN2 Gene

Gene Families for PFN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PFN2 Gene

Blocks:
  • Mammal profilin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PFN2 Gene

GenScript: Design optimal peptide antigens:
  • Profilin (C9J2N0_HUMAN)
  • Profilin (C9J5V8_HUMAN)
  • Profilin (C9JQ45_HUMAN)
  • Profilin (D3DNI2_HUMAN)
  • Profilin (D3DNI3_HUMAN)

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

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.

Phenotypes From GWAS Catalog for PFN2 Gene

Gene Ontology (GO) - Molecular Function for PFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFN2

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
cytoskeleton 5
extracellular 3
cytosol 3
plasma membrane 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PFN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PFN2 Gene

Pathways & Interactions for PFN2 Gene

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

Pathways by source for PFN2 Gene

2 GeneGo (Thomson Reuters) pathways for PFN2 Gene
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Immune response CCR3 signaling in eosinophils
5 Qiagen pathways for PFN2 Gene
  • Actin Nucleation and Branching
  • Actin-Based Motility by Rho Family GTPases
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
  • Integrin Pathway
  • RhoA Pathway

Gene Ontology (GO) - Biological Process for PFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010633 negative regulation of epithelial cell migration IEA,IMP 23153535
GO:0030036 actin cytoskeleton organization IEA --
GO:0030833 regulation of actin filament polymerization IBA,IEA 21873635
GO:0030837 negative regulation of actin filament polymerization IDA 7758455
GO:0030838 positive regulation of actin filament polymerization IGI,IEA 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
Pentaglyme Experimental Pharma Target 0
Triglyme Experimental Pharma Target 0
genes like me logo Genes that share compounds with PFN2: view

Transcripts for PFN2 Gene

mRNA/cDNA for PFN2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFN2

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

Expression for PFN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PFN2 Gene



Protein tissue co-expression partners for PFN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PFN2 31 30
  • 99.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PFN2 31 30
  • 97.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pfn2 17 31 30
  • 96.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PFN2 31
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100909840 30
  • 94.76 (n)
oppossum
(Monodelphis domestica)
Mammalia PFN2 31
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFN2 31 30
  • 90.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFN2 31
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfn2 30
  • 78.1 (n)
Str.1397 30
African clawed frog
(Xenopus laevis)
Amphibia pfn2-prov 30
zebrafish
(Danio rerio)
Actinopterygii pfn2l 31 30
  • 79.56 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10738 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for PFN2: view image

Paralogs for PFN2 Gene

Paralogs for PFN2 Gene

(3) SIMAP similar genes for PFN2 Gene using alignment to 10 proteins:

  • PROF2_HUMAN
  • C9J0J7_HUMAN
  • C9J2N0_HUMAN
  • C9J5V8_HUMAN
  • C9J712_HUMAN
  • C9JQ45_HUMAN
  • D3DNI2_HUMAN
  • D3DNI3_HUMAN
  • F2Z3G0_HUMAN
  • G5E9Q6_HUMAN

Pseudogenes.org Pseudogenes for PFN2 Gene

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

Variants for PFN2 Gene

Additional dbSNP identifiers (rs#s) for PFN2 Gene

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)

Additional Variant Information for PFN2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PFN2 Gene

Disorders for PFN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PFN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tinea imbricata
  • tinea imbricata, susceptibility to
usher syndrome
  • retinitis pigmentosa-deafness syndrome
charcot-marie-tooth disease
  • peroneal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search PFN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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) Honoré B … Leffers H (FEBS letters 1993) 2 3 4 23 54
  2. X-ray structure determination of human profilin II: A comparative structural analysis of human profilins. (PMID: 10600384) Nodelman IM … Schutt CE (Journal of molecular biology 1999) 3 4 23 54
  3. Distinct biochemical characteristics of the two human profilin isoforms. (PMID: 7758455) Gieselmann R … Witke W (European journal of biochemistry 1995) 3 4 23 54
  4. Identification of Rgl3 as a potential binding partner for Rap-family small G-proteins and profilin II. (PMID: 17382517) Xu J … Kitayama H (Cellular signalling 2007) 3 23 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for PFN2 Gene

Sources for PFN2 Gene