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Aliases for PFN4 Gene

Aliases for PFN4 Gene

  • Profilin Family Member 4 2 3 5
  • Profilin IV 3 4
  • Profilin Family, Member 4 2
  • Profilin-4 3

External Ids for PFN4 Gene

Previous GeneCards Identifiers for PFN4 Gene

  • GC02M024313
  • GC02M024249
  • GC02M024191
  • GC02M024338
  • GC02M024077

Summaries for PFN4 Gene

GeneCards Summary for PFN4 Gene

PFN4 (Profilin Family Member 4) is a Protein Coding gene. Among its related pathways are Salmonella infection (KEGG) and Ras signaling pathway. GO annotations related to this gene include actin binding and lipid binding.

UniProtKB/Swiss-Prot for PFN4 Gene

  • Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA). Does not bind to actin (PubMed:19419568), contrary to other family members.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFN4 Gene

Genomics for PFN4 Gene

Regulatory Elements for PFN4 Gene

Enhancers for PFN4 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
GH02F024121 1.1 ENCODE 14.7 +0.4 446 3.8 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 FAM228B ENSG00000223530 PFN4 TP53I3 GC02M024111 PIR36243
GH02F024075 1.2 ENCODE 13.2 +46.5 46502 3.5 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 FAM228B TP53I3 SF3B6 PFN4 UBXN2A
GH02F024110 1 Ensembl ENCODE 14.3 +12.2 12242 1.3 PKNOX1 MAFG BACH1 YY1 JUND ZNF316 PBX2 HMBOX1 NFE2 ZBTB33 FAM228B PFN4 TP53I3 SF3B6 MFSD2B ATAD2B UBXN2A FAM228A GC02M024111 PIR36243
GH02F024045 1.1 ENCODE 12.8 +76.5 76544 2.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 FAM228B PFN4 WDCP SF3B6 FAM228A RNU6-370P
GH02F024082 1.1 ENCODE 12.5 +39.5 39488 3.6 HDGF CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 FAM228B TP53I3 PFN4 SF3B6 UBXN2A FAM228A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PFN4 on UCSC Golden Path with GeneCards custom track

Promoters for PFN4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000121744 -123 2001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 ZNF548

Genomic Location for PFN4 Gene

Chromosome:
2
Start:
24,114,809 bp from pter
End:
24,123,477 bp from pter
Size:
8,669 bases
Orientation:
Minus strand

Genomic View for PFN4 Gene

Genes around PFN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFN4 Gene

Proteins for PFN4 Gene

  • Protein details for PFN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHR9-PROF4_HUMAN
    Recommended name:
    Profilin-4
    Protein Accession:
    Q8NHR9
    Secondary Accessions:
    • Q53TL9

    Protein attributes for PFN4 Gene

    Size:
    129 amino acids
    Molecular mass:
    14319 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PFN4 Gene

Post-translational modifications for PFN4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PFN4 Gene

No data available for DME Specific Peptides for PFN4 Gene

Domains & Families for PFN4 Gene

Protein Domains for PFN4 Gene

Suggested Antigen Peptide Sequences for PFN4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NHR9

UniProtKB/Swiss-Prot:

PROF4_HUMAN :
  • Belongs to the profilin family.
Family:
  • Belongs to the profilin family.
genes like me logo Genes that share domains with PFN4: view

No data available for Gene Families for PFN4 Gene

Function for PFN4 Gene

Molecular function for PFN4 Gene

UniProtKB/Swiss-Prot Function:
Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA). Does not bind to actin (PubMed:19419568), contrary to other family members.
UniProtKB/Swiss-Prot Induction:
Reduced levels in Sertoli cell-only syndrome (SCOS) patients.

Gene Ontology (GO) - Molecular Function for PFN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IBA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PFN4: view
genes like me logo Genes that share phenotypes with PFN4: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PFN4 Gene

Localization for PFN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFN4 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 PFN4 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PFN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IBA --
GO:0015629 actin cytoskeleton IBA --
genes like me logo Genes that share ontologies with PFN4: view

Pathways & Interactions for PFN4 Gene

genes like me logo Genes that share pathways with PFN4: view

Pathways by source for PFN4 Gene

Gene Ontology (GO) - Biological Process for PFN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042989 sequestering of actin monomers IBA --
genes like me logo Genes that share ontologies with PFN4: view

No data available for SIGNOR curated interactions for PFN4 Gene

Transcripts for PFN4 Gene

Unigene Clusters for PFN4 Gene

Profilin family, member 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFN4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1: -
SP2: - -
SP3:

Relevant External Links for PFN4 Gene

GeneLoc Exon Structure for
PFN4
ECgene alternative splicing isoforms for
PFN4

Expression for PFN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PFN4 Gene

mRNA differential expression in normal tissues according to GTEx for PFN4 Gene

This gene is overexpressed in Testis (x36.4).

Protein differential expression in normal tissues from HIPED for PFN4 Gene

This gene is overexpressed in Heart (38.0) and Testis (31.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PFN4 Gene



Protein tissue co-expression partners for PFN4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PFN4 Gene:

PFN4

SOURCE GeneReport for Unigene cluster for PFN4 Gene:

Hs.442718

mRNA Expression by UniProt/SwissProt for PFN4 Gene:

Q8NHR9-PROF4_HUMAN
Tissue specificity: Detected in testis (at protein level).
genes like me logo Genes that share expression patterns with PFN4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PFN4 Gene

Orthologs for PFN4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PFN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFN4 34 35
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia PFN4 34 35
  • 89.41 (n)
dog
(Canis familiaris)
Mammalia PFN4 34 35
  • 87.6 (n)
rat
(Rattus norvegicus)
Mammalia Pfn4 34
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Pfn4 34 16 35
  • 82.95 (n)
oppossum
(Monodelphis domestica)
Mammalia PFN4 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFN4 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFN4 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFN4 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfn4 34
  • 58.93 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC556873 34
  • 54.28 (n)
PFN4 35
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFY1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for PFN4 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 PFN4 Gene

ENSEMBL:
Gene Tree for PFN4 (if available)
TreeFam:
Gene Tree for PFN4 (if available)

Paralogs for PFN4 Gene

No data available for Paralogs for PFN4 Gene

Variants for PFN4 Gene

Sequence variations from dbSNP and Humsavar for PFN4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10164787 -- 24,114,378(+) tgtct(A/G)tactt intron-variant, downstream-variant-500B
rs10167888 -- 24,114,837(+) ctttc(C/T)gggga intron-variant, downstream-variant-500B, utr-variant-3-prime
rs10195955 -- 24,120,604(+) aagcc(A/G)gagtg intron-variant
rs10195984 -- 24,120,686(+) aagta(C/G)ctggg intron-variant
rs10199985 -- 24,114,462(+) ttttg(A/C)aaaat intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PFN4 Gene

Variant ID Type Subtype PubMed ID
nsv455897 CNV gain 19166990
nsv997725 CNV gain 25217958
nsv997445 CNV gain 25217958
nsv581179 CNV gain 21841781

Variation tolerance for PFN4 Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFN4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFN4 Gene

Disorders for PFN4 Gene

Relevant External Links for PFN4

Genetic Association Database (GAD)
PFN4
Human Genome Epidemiology (HuGE) Navigator
PFN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFN4

No disorders were found for PFN4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PFN4 Gene

Publications for PFN4 Gene

  1. 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 Biol. 2009) 3 4 22 64
  2. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64
  3. Novel testis-expressed profilin IV associated with acrosome biogenesis and spermatid elongation. (PMID: 15591451) Obermann H. … Kirchhoff C. (Mol. Hum. Reprod. 2005) 4 22 64
  4. 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
  5. On the origin and evolution of vertebrate and viral profilins. (PMID: 17187785) Polet D. … Ampe C. (FEBS Lett. 2007) 22 64

Products for PFN4 Gene

Sources for PFN4 Gene

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