The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008] See more...

Aliases for PFN3 Gene

Aliases for PFN3 Gene

  • Profilin 3 2 3 5
  • Profilin III 3 4
  • Profilin-3 3 4

External Ids for PFN3 Gene

Previous GeneCards Identifiers for PFN3 Gene

  • GC05M176760
  • GC05M171747
  • GC05M176827

Summaries for PFN3 Gene

Entrez Gene Summary for PFN3 Gene

  • The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PFN3 Gene

PFN3 (Profilin 3) is a Protein Coding gene. Diseases associated with PFN3 include Nephrolithiasis, Calcium Oxalate. Among its related pathways are Shigellosis and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Gene Ontology (GO) annotations related to this gene include actin binding and lipid binding. An important paralog of this gene is PFN1.

UniProtKB/Swiss-Prot Summary for PFN3 Gene

  • Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis.

Additional gene information for PFN3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFN3 Gene

Genomics for PFN3 Gene

GeneHancer (GH) Regulatory Elements for PFN3 Gene

Promoters and enhancers for PFN3 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
GH05J177400 Promoter 0.7 Ensembl 750.6 +0.2 160 0.2 CREB1 ATF1 ATF7 MAX ATF2 ZBTB33 POLR2A KX215110 PFN3 lnc-LMAN2-1
GH05J177399 Enhancer 0.2 Ensembl 750.6 +1.0 960 0.2 KX215110 PFN3 lnc-LMAN2-1
GH05J177425 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 -28.7 -28711 8.6 SIN3A ZNF24 SP1 ZBTB40 SMARCE1 POLR2A CEBPZ HDAC2 ATF1 FOS GRK6 UIMC1 MXD3 FAM193B NSD1 FAF2 ENSG00000247679 ENSG00000246596 DOK3 LMAN2
GH05J177443 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 -45.6 -45645 6.2 SIN3A ZNF24 ZBTB6 MLX RBPJ POLR2A NR2F1 NR2F6 ZNF362 MYC PRR7 MXD3 FAM193B LMAN2 NSD1 ZNF346 FAF2 HNRNPAB ENSG00000247679 UIMC1
GH05J177453 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -56.2 -56204 6.9 ZNF785 ZNF24 SP1 ZBTB40 CTCF SREBF1 ZBTB6 MLX RBPJ POLR2A PRR7 PRR7-AS1 PRR7-AS1-001 piR-31966 NSD1 ENSG00000247679 UIMC1 ENSG00000246596 ZNF346 ZNF346-IT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFN3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PFN3 gene promoter:
  • ATF
  • GATA-2
  • GR
  • GR-alpha
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA

Genomic Locations for PFN3 Gene

Genomic Locations for PFN3 Gene
chr5:177,400,107-177,400,661
(GRCh38/hg38)
Size:
555 bases
Orientation:
Minus strand
chr5:176,827,108-176,827,637
(GRCh37/hg19)
Size:
530 bases
Orientation:
Minus strand

Genomic View for PFN3 Gene

Genes around PFN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFN3 Gene

Proteins for PFN3 Gene

  • Protein details for PFN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60673-PROF3_HUMAN
    Recommended name:
    Profilin-3
    Protein Accession:
    P60673
    Secondary Accessions:
    • A2RUL3

    Protein attributes for PFN3 Gene

    Size:
    137 amino acids
    Molecular mass:
    14596 Da
    Quaternary structure:
    • Interacts with ACTRT3.

neXtProt entry for PFN3 Gene

Post-translational modifications for PFN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PFN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PFN3 Gene

Domains & Families for PFN3 Gene

Gene Families for PFN3 Gene

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

Protein Domains for PFN3 Gene

Suggested Antigen Peptide Sequences for PFN3 Gene

GenScript: Design optimal peptide antigens:
  • Profilin III (PROF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60673

UniProtKB/Swiss-Prot:

PROF3_HUMAN :
  • Belongs to the profilin family.
Family:
  • Belongs to the profilin family.
genes like me logo Genes that share domains with PFN3: view

Function for PFN3 Gene

Molecular function for PFN3 Gene

UniProtKB/Swiss-Prot Function:
Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis.

Phenotypes From GWAS Catalog for PFN3 Gene

Gene Ontology (GO) - Molecular Function for PFN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA 21873635
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PFN3: view
genes like me logo Genes that share phenotypes with PFN3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PFN3 Gene

Localization for PFN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFN3 Gene

Cytoplasm, cytoskeleton. Nucleus.

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 PFN3 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for PFN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PFN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PFN3 Gene

Pathways & Interactions for PFN3 Gene

genes like me logo Genes that share pathways with PFN3: view

Gene Ontology (GO) - Biological Process for PFN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 actin cytoskeleton organization IEA --
GO:0030833 regulation of actin filament polymerization IBA 21873635
GO:0032233 positive regulation of actin filament bundle assembly IBA 21873635
genes like me logo Genes that share ontologies with PFN3: view

No data available for SIGNOR curated interactions for PFN3 Gene

Drugs & Compounds for PFN3 Gene

No Compound Related Data Available

Transcripts for PFN3 Gene

mRNA/cDNA for PFN3 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) 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 PFN3

Alternative Splicing Database (ASD) splice patterns (SP) for PFN3 Gene

No ASD Table

Relevant External Links for PFN3 Gene

GeneLoc Exon Structure for
PFN3
ECgene alternative splicing isoforms for
PFN3

Expression for PFN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PFN3 Gene

mRNA differential expression in normal tissues according to GTEx for PFN3 Gene

This gene is overexpressed in Testis (x47.9).

Protein differential expression in normal tissues from HIPED for PFN3 Gene

This gene is overexpressed in Rectum (15.4), NK cells (14.1), and Colon (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PFN3 Gene



NURSA nuclear receptor signaling pathways regulating expression of PFN3 Gene:

PFN3

SOURCE GeneReport for Unigene cluster for PFN3 Gene:

Hs.130196

mRNA Expression by UniProt/SwissProt for PFN3 Gene:

P60673-PROF3_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with PFN3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFN3 Gene

Orthologs for PFN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PFN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFN3 32
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia PFN3 33 32
  • 86.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pfn3 17 33 32
  • 85.19 (n)
rat
(Rattus norvegicus)
Mammalia Pfn3 32
  • 84.94 (n)
dog
(Canis familiaris)
Mammalia PFN3 33 32
  • 82.48 (n)
OneToOne
chicken
(Gallus gallus)
Aves PFN3 33 32
  • 59.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFN3 33
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pfn1 33
  • 29 (a)
ManyToMany
Species where no ortholog for PFN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PFN3 Gene

ENSEMBL:
Gene Tree for PFN3 (if available)
TreeFam:
Gene Tree for PFN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PFN3: view image

Paralogs for PFN3 Gene

Paralogs for PFN3 Gene

(2) SIMAP similar genes for PFN3 Gene using alignment to 1 proteins:

  • PROF3_HUMAN
genes like me logo Genes that share paralogs with PFN3: view

Variants for PFN3 Gene

Sequence variations from dbSNP and Humsavar for PFN3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs199988476 pathogenic, likely-benign, likely-pathogenic, Factor XII deficiency disease, Hypophosphatemic Nephrolithiasis/Osteoporosis, F12-Related Disorders 177,402,460(-) C/A/G/T upstream_transcript_variant
rs1000253382 -- 177,402,599(-) G/A upstream_transcript_variant
rs1001326017 -- 177,401,256(-) G/T upstream_transcript_variant
rs1001479722 -- 177,401,482(-) T/C upstream_transcript_variant
rs1002201363 -- 177,401,109(-) A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PFN3 Gene

Variant ID Type Subtype PubMed ID
dgv10184n54 CNV loss 21841781
dgv10185n54 CNV loss 21841781
dgv733n27 CNV loss 19166990
nsv1161311 CNV duplication 26073780
nsv1161312 CNV deletion 26073780
nsv1161313 CNV duplication 26073780
nsv471057 CNV loss 18288195
nsv509103 CNV insertion 20534489
nsv600364 CNV loss 21841781

Variation tolerance for PFN3 Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFN3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFN3 Gene

Disorders for PFN3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PFN3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
nephrolithiasis, calcium oxalate
  • caon
- elite association - COSMIC cancer census association via MalaCards
Search PFN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PFN3

genes like me logo Genes that share disorders with PFN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFN3 Gene

Publications for PFN3 Gene

  1. Genomic organization of profilin-III and evidence for a transcript expressed exclusively in testis. (PMID: 11867228) Braun A … Brandau O (Gene 2002) 2 3 4 23 56
  2. Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids. (PMID: 19419568) Behnen M … Kirchhoff C (BMC cell biology 2009) 3 4 23 56
  3. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 56
  4. Evolutionary expansion and structural functionalism of the ancient family of profilin proteins. (PMID: 28501628) Pandey DK … Chaudhary B (Gene 2017) 3 56
  5. Natural antisense transcription from a comparative perspective. (PMID: 27241791) Piatek MJ … Werner A (Genomics 2016) 3 56

Products for PFN3 Gene

Sources for PFN3 Gene