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PFN2 Gene

protein-coding   GIFtS: 65
GCID: GC03M149682

Profilin 2

  See PFN2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Profilin 21 2
Profilin II2 3
D3S1319E2 5
PFL2 5
profilin-22

External Ids:    HGNC: 88821   Entrez Gene: 52172   Ensembl: ENSG000000700877   OMIM: 1765905   UniProtKB: P350803   

Export aliases for PFN2 gene to outside databases

Previous GC identifers: GC03M146612 GC03M150567 GC03M150964 GC03M151003 GC03M151165 GC03M147055


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 developmental coordination disorder. GO annotations related to this gene include actin binding and phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is PFN1.

UniProtKB/Swiss-Prot: PROF2_HUMAN, P35080
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 Wiki entry for PFN2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the PFN2 gene promoter:
         Oct-B1   oct-B2   oct-B3   p53   Lmo2   Nkx2-5   c-Ets-1   YY1   POU2F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPFN2 promoter sequence
   Search Chromatin IP Primers for PFN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PFN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.1   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25.1

PFN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFN2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M149682:  view genomic region     (about GC identifiers)

Start:
149,682,691 bp from pter      End:
149,768,575 bp from pter
Size:
85,885 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PROF2_HUMAN, P35080 (See protein sequence)
Recommended Name: Profilin-2  
Size: 140 amino acids; 15046 Da
Subunit: Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio
1 PDB 3D structure from and Proteopedia for PFN2:
1D1J (3D)    
Secondary accessions: B2R4C8 D3DNI4 Q4VBQ4 Q8WVF9 Q9HBK2
Alternative splicing: 2 isoforms:  P35080-1   P35080-2   

Explore the universe of human proteins at neXtProt for PFN2: NX_P35080

Explore proteomics data for PFN2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys127
  • Modification sites at PhosphoSitePlus

  • See PFN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002619.1  NP_444252.1  

    ENSEMBL proteins: 
     ENSP00000410464   ENSP00000239940   ENSP00000408283   ENSP00000420417   ENSP00000417924  
     ENSP00000418494   ENSP00000418523   ENSP00000417351   ENSP00000417817   ENSP00000418521  
     ENSP00000418142   ENSP00000418216   ENSP00000420202   ENSP00000420504   ENSP00000417912  
     ENSP00000420244  
    Reactome Protein details: P35080

    PFN2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PFN2

     
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    antibodies-online proteins for PFN2 (31 products) 

     
    antibodies-online peptides for PFN2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR005454 Profilin_chordates
     IPR027310 Profilin_CS
     IPR005455 Profilin_eukaryotes/bac

    Graphical View of Domain Structure for InterPro Entry P35080

    ProtoNet protein and cluster: P35080

    1 Blocks protein domain: IPB005454 Mammal profilin signature

    UniProtKB/Swiss-Prot: PROF2_HUMAN, P35080
    Similarity: Belongs to the profilin family


    Find genes that share domains with PFN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROF2_HUMAN, P35080
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000774adenyl-nucleotide exchange factor activity IDA7758455
    GO:0003779actin binding ----
    GO:0003785actin monomer binding IPI7758455
    GO:0005515protein binding IPI15383276
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA7758455
         
    Find genes that share ontologies with PFN2           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for PFN2:
     Decreased focal adhesion (FA)   G0/1 arrest  Increased G1 DNA content  Stronger migration 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pfn2):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with PFN2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pfn2tm1Wit for PFN2

       genOway: Develop your customized and physiologically relevant rodent model for PFN2

    miRNA
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    miRTarBase miRNAs that target PFN2:
    hsa-mir-26b-5p (MIRT029555), hsa-mir-7-5p (MIRT004062), hsa-mir-100-5p (MIRT048419)

    Block miRNA regulation of human, mouse, rat PFN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PFN2 (see all 105):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-520e hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-342-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PFN2

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    Sino Biological Human cDNA Clone for PFN2
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PROF2_HUMAN, P35080: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    extracellular2
    plasma membrane2
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0015629actin cytoskeleton ----
    GO:0043195terminal bouton IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with PFN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PFN2 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    2Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    RhoA Pathway0.35
    3Salmonella infection (KEGG)
    Shigellosis0.30
    Salmonella infection0.30
    4Integrin Pathway
    Integrin Pathway0.67
    5Apoptotic Pathways in Synovial Fibroblasts
    Actin-Based Motility by Rho Family GTPases0.62


    Find genes that share SuperPaths with PFN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PFN2
        RhoA Pathway
    Actin-Based Motility by Rho Family GTPases
    Integrin Pathway
    Actin Nucleation and Branching
    Fc-GammaR-Mediated Phagocytosis in Macrophages

    2 GeneGo (Thomson Reuters) Pathways for PFN2
        Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils

    1 Sino Biological Pathway for PFN2
        Non-Canonical Wnt Pathway

    1 Reactome Pathway for PFN2
        Signaling by Robo receptor


    4 Kegg Pathways  (Kegg details for PFN2):
        Rap1 signaling pathway
    Regulation of actin cytoskeleton
    Shigellosis
    Salmonella infection

        Pathway & Disease-focused RT2 Profiler PCR Array including PFN2: 
              Cytoskeleton Regulators in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PFN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PFN2 (P350801, 2, 3 ENSP000002399404) via UniProtKB, MINT, STRING, and/or I2D (see all 145)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GOLGB1Q147891, 2, 3EBI-473138,EBI-709973 MINT-64179 I2D: score=5 
    RNF146Q9NTX72, 3, ENSP000003093654MINT-65636 I2D: score=5 STRING: ENSP00000309365
    DDX11Q96FC92, 3MINT-65144 I2D: score=5 
    IKQ131232, 3MINT-64116 I2D: score=5 
    IVNS1ABPQ9Y6Y02, 3MINT-65876 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010633negative regulation of epithelial cell migration IMP--
    GO:0030036actin cytoskeleton organization IEA--
    GO:0030837negative regulation of actin filament polymerization IDA7758455
    GO:0030838positive regulation of actin filament polymerization IGI--
    GO:0032233positive regulation of actin filament bundle assembly IMP--

    Find genes that share ontologies with PFN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PFN2 (PROF2)

    2 DrugBank Compounds for PFN2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-(2-Methoxy-Ethoxy)-2-{2-[2-(2-Methoxy-Ethoxy]-Ethoxy}-Ethane-- 1191-87-3target--10592235
    1-Methoxy-2-[2-(2-Methoxy-Ethoxy]-Ethane-- --target--10592235

    1 Novoseek inferred chemical compound relationship for PFN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 57.4 6 10523513 (1), 19419568 (1), 7758455 (1), 10600384 (1) (see all 5)



    Find genes that share compounds with PFN2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PFN2 gene (2 alternative transcripts): 
    NM_002628.4  NM_053024.3  

    Unigene Cluster for PFN2:

    Profilin 2
    Hs.91747  [show with all ESTs]
    Unigene Representative Sequence: BC043646
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000452853 ENST00000239940(uc003exu.1 uc003ext.1 uc011bnu.1)
    ENST00000423691 ENST00000481767 ENST00000460404 ENST00000468323 ENST00000494827
    ENST00000497060 ENST00000490975 ENST00000497148 ENST00000498169 ENST00000475518
    ENST00000481275 ENST00000498307 ENST00000489155 ENST00000461930 ENST00000461868

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    Selected qRT-PCR Assays for microRNAs that regulate PFN2 (see all 105):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-520e hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-342-3p
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    Additional mRNA sequence: 

    AF228738.1 AK297915.1 AK307227.1 AK311780.1 AK311782.1 AL096719.1 BC002964.1 BC018049.1 
    BC043646.1 BC095444.1 L10678.1 

    Selected DOTS entries (see all 29):

    DT.95110279  DT.92039735  DT.449232  DT.100840196  DT.92462427  DT.100878907  DT.100878910  DT.100801035 
    DT.100762057  DT.100051986  DT.100878902  DT.40293856  DT.100771325  DT.120882374  DT.40311774  DT.120882289 
    DT.120882349  DT.91753025  DT.100686163  DT.100878913  DT.120882318  DT.120882330  DT.120882362  DT.95125293 

    Selected AceView cDNA sequences (see all 582):

    AL711366 AI470930 BG170944 BU172426 AW104535 CK430575 AI687346 AA379141 
    BQ951954 CK430426 BM541296 CA440081 CB152015 AW072190 CR626138 BM709717 
    BU730877 BU947492 AW594573 CR625431 BU177549 CB215907 AA339009 BQ771868 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PFN2 (see all 13)    About this scheme

    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:                                            -     -                       -     -     -                                                                     

    ExUns: 8
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for PFN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PFN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATCATTCCT
    PFN2 Expression
    About this image


    PFN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Ovary (Reproductive System)
             Oviduct
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Eye (Sensory Organs)
             Retina
    PFN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.91747

    UniProtKB/Swiss-Prot: PROF2_HUMAN, P35080
    Tissue specificity: Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta,
    lung and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including PFN2: 
              Cytoskeleton Regulators in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PFN2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfn21 , 5 profilin 21, 5 96.19(n)1
    99.29(a)1
      3 (28.15 cM)5
    186451  NM_019410.31  NP_062283.11 
     578418955 
    chicken
    (Gallus gallus)
    Aves PFN21 profilin 2 90.95(n)
    98.57(a)
      771904  NM_001079760.1  NP_001073228.1 
    lizard
    (Anolis carolinensis)
    Reptilia PFN26
    profilin 2
    99(a)
    1 ↔ 1
    3(18701331-18707023)
    African clawed frog
    (Xenopus laevis)
    Amphibia pfn2-prov2 profilin II 82.17(n)    BC046719.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045843.12   -- 76.27(n)    BC045843.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PFN2 gene
    PFN12  PFN32  
    3 SIMAP similar genes for PFN2 using alignment to 10 protein entries:     PROF2_HUMAN (see all proteins):
    PFN1    PDE4DIP    PFN3

    Find genes that share paralogs with PFN2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PFN2
    PGOHUM00000241810


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PFN2 (see all 173)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889734311,2
    C--147054822(+) TCTTAC/TGTGGG 2 -- ds50010--------
    rs1816378651,2
    --147055004(+) GCAGAC/TAAGTC 2 -- ds50010--------
    rs1166374901,2
    F--147055069(+) TAACAG/CATCAG 2 -- ds50011Minor allele frequency- C:0.01NA 120
    rs1862169801,2
    --147055360(+) TTAGAC/TTGTAT 2 -- ut310--------
    rs1415382331,2
    --147055527(+) AAAATC/TCATCT 2 -- ut310--------
    rs2011600881,2
    --147055594(+) ATTCA-/TCAC  
            
    AAGAC
    2 -- ut310--------
    rs1909410881,2
    --147055826(+) TCAATA/CAGTAT 2 -- ut310--------
    rs1997712391,2
    C--147055997(+) AGGGA-/TTTTAATT 2 -- cds10--------
    rs126323411,2
    C,H--147056217(+) GGCACC/TTTGCT 2 -- ut310--------
    rs1823213111,2
    --147056269(+) TAAGAA/CAAAGT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for PFN2 (149682691 - 149768575 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PFN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34142CNV Loss18971310
    nsv877643CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176590    OMIM disorders: --

    1 disease for PFN2:    
    About MalaCards
    developmental coordination disorder

    3 diseases from the University of Copenhagen DISEASES database for PFN2:
    Hypersensitivity reaction type I disease     Allergic rhinitis     Developmental coordination disorder

    Find genes that share disorders with PFN2           About GenesLikeMe


    Export disorders for PFN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PFN2 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with PFN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of a novel human profilin variant, profilin II. (PubMed id 8365484)1, 2, 3, 9 Honore B.... Leffers H. (FEBS Lett. 1993)
    2. X-ray structure determination of human profilin II: a comparative structural analysis of human profilins. (PubMed id 10600384)1, 2, 9 Nodelman I.M.... Schutt C.E. (J. Mol. Biol. 1999)
    3. Distinct biochemical characteristics of the two human profilin isoforms. (PubMed id 7758455)1, 2, 9 Gieselmann R.... Witke W. (Eur. J. Biochem. 1995)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Profilin II is alternatively spliced, resulting in profilin isoforms that are differentially expressed and have distinct biochemical properties. (PubMed id 11027290)1, 2 Lambrechts A.... Ampe C. (Mol. Cell. Biol. 2000)
    6. Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. (PubMed id 8975700)1, 3 Joensuu T....Sankila E.M. (Genomics 1996)
    7. Identification of Rgl3 as a potential binding partner for Rap-family small G-proteins and profilin II. (PubMed id 17382517)1, 9 Xu J....Kitayama H. (Cell. Signal. 2007)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5217 HGNC: 8882 AceView: PFN2 Ensembl:ENSG00000070087 euGenes: HUgn5217
    ECgene: PFN2 Kegg: 5217 H-InvDB: PFN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PFN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PFN2 gene:
    Search GeneIP for patents involving PFN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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