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GSN Gene

protein-coding   GIFtS: 72
GCID: GC09P123971

Gelsolin

(Previous names: gelsolin (amyloidosis, Finnish type))
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(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
gelsolin1 2     Finnish Type1
Actin-Depolymerizing Factor2 3     Gelsolin (Amyloidosis, Finnish Type)1
ADF2 3     brevin2
AGEL2 3     Brevin3
amyloidosis1     

External Ids:    HGNC: 46201   Entrez Gene: 29342   Ensembl: ENSG000001481807   OMIM: 1373505   UniProtKB: P063963   

Export aliases for GSN gene to outside databases

Previous GC identifers: GC09P115166 GC09P115708 GC09P117515 GC09P119438 GC09P119406 GC09P121109 GC09P123070 GC09P093648


(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 GSN Gene:
The protein encoded by this gene binds to the 'plus' ends of actin monomers and filaments to prevent monomer
exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments.
Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants
encoding several different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GSN Gene:
GSN (gelsolin) is a protein-coding gene. Diseases associated with GSN include amyloidosis, and finnish type amyloidosis. GO annotations related to this gene include actin binding and calcium ion binding. An important paralog of this gene is SVIL.

UniProtKB/Swiss-Prot: GELS_HUMAN, P06396
Function: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or
filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into
filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis

Gene Wiki entry for GSN (Gelsolin) 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:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GSN gene promoter:
         Sp1   HNF-4alpha2   GATA-1   NF-AT   Evi-1   HNF-4alpha1   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GSN promoter sequence
   Search Chromatin IP Primers for GSN

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


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

Entrez Gene cytogenetic band: 9q33   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q33

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P123971:  view genomic region     (about GC identifiers)

Start:
123,970,072 bp from pter      End:
124,095,121 bp from pter
Size:
125,050 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GELS_HUMAN, P06396 (See protein sequence)
Recommended Name: Gelsolin precursor  
Size: 782 amino acids; 85698 Da
Subunit: Binds to actin and to fibronectin. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X.
Interacts with the inactive form of EIF2AK2/PKR (By similarity)
Selected PDB 3D structures from and Proteopedia for GSN (see all 35):
1C0F (3D)        1C0G (3D)        1D4X (3D)        1DEJ (3D)        1EQY (3D)        1ESV (3D)    
Secondary accessions: A2A418 A8MUD1 A8MYN7 B7Z373 Q5T0I2 Q8WVV7
Alternative splicing, Alternative initiation: 3 isoforms:  P06396-1   P06396-2   P06396-3   

Explore the universe of human proteins at neXtProt for GSN: NX_P06396

Explore proteomics data for GSN at MOPED

Post-translational modifications: 

  • Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids1
  • Ubiquitination2 at Lys584
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (10 alternative transcripts): 
    NP_000168.1  NP_001121134.1  NP_001121135.2  NP_001121136.1  NP_001121137.1  NP_001121138.1  NP_001121139.1  NP_001244958.1  
    NP_001244959.1  NP_937895.1  

    ENSEMBL proteins: 
     ENSP00000362929   ENSP00000410657   ENSP00000404226   ENSP00000362924   ENSP00000362913  
     ENSP00000362912   ENSP00000445823   ENSP00000411293   ENSP00000377882   ENSP00000409358  
     ENSP00000416586   ENSP00000340888   ENSP00000362914  
    Reactome Protein details: P06396

    GSN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for GSN
    OriGene Protein Over-expression Lysate for GSN
    OriGene MassSpec for GSN
    OriGene Custom Protein Services for GSN
    GenScript Custom Purified and Recombinant Proteins Services for GSN
    Novus Biologicals GSN Proteins
    Novus Biologicals GSN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GSN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GSN
    R&D Systems Antibodies for GSN (Gelsolin/GSN)
    Cell Signaling Technology (CST) Antibodies for GSN  (gelsolin)
    OriGene Antibodies for GSN
    OriGene Custom Antibody Services for GSN
    Novus Biologicals GSN Antibodies
    Abcam antibodies for GSN
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for GSN
    LSBio Antibodies in human, mouse, rat for GSN

    GSN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GSN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GSN
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR007122 Villin/Gelsolin
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry P06396

    ProtoNet protein and cluster: P06396

    2 Blocks protein domains:
    IPB007122 Gelsolin family signature
    IPB007123 Gelsolin region


    UniProtKB/Swiss-Prot: GELS_HUMAN, P06396
    Similarity: Belongs to the villin/gelsolin family
    Similarity: Contains 6 gelsolin-like repeats


    GSN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GELS_HUMAN, P06396
    Function: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or
    filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into
    filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis

         Genatlas biochemistry entry for GSN:
    gelsolin,actin filaments severing and capping protein,expressed in macrophages,platelets,plasma,with homology to
    villin,Ca2+ and polyphosphoinositide 4,5-biphosphate (PIP2)-regulated,implicated in actin remodeling in growing
    and in apoptotic cells,cleaved by CASP3 to form a potential effector of morphologic change during apoptosis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005509calcium ion binding TAS1321812
    GO:0005515protein binding IPI17620599
         
    GSN for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GSN:
     Decreased cilium length  Decreased cilium length after  

         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gsn):
     cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  nervous system  reproductive system 
     respiratory system  skeleton 

    GSN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gsntm1Djk for GSN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GSN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GSN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GSN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GSN

    miRNA
    Products:
        
    miRTarBase miRNAs that target GSN:
    hsa-mir-124-3p (MIRT002639), hsa-mir-335-5p (MIRT018068)

    Block miRNA regulation of human, mouse, rat GSN using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GSN:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGSN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GSN
    Predesigned siRNA for gene silencing in human, mouse, rat GSN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GSN

    Clone
    Products:
         
    OriGene clones in human, mouse for GSN (see all 44)
    OriGene ORF clones in mouse, rat for GSN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): GSN (NM_001127665)
    Sino Biological Human cDNA Clone for GSN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSN

    Cell Line
    Products:
         
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GSN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSN


    (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
    GELS_HUMAN, P06396: Isoform 2: Cytoplasm, cytoskeleton
    GELS_HUMAN, P06396: Isoform 1: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    extracellular5
    endoplasmic reticulum2
    golgi apparatus2
    nucleus2
    plasma membrane2
    lysosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ----
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton IEA--

    GSN for ontologies           About GeneDecksing


    (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 GSN About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Caspase-mediated cleavage of cytoskeletal proteins0.00
    Apoptotic execution phase0.74
    3Integrin Pathway
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    4RNA Polymerase I Promoter Opening
    Amyloids0.68
    5Apoptotic Pathways in Synovial Fibroblasts
    Actin-Based Motility by Rho Family GTPases0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GSN (see all 7)
        Actin-Based Motility by Rho Family GTPases
    Guidance Cues and Growth Cone Motility
    Integrin Pathway
    Germ Cell-Sertoli Cell Junction Dynamics
    Transendothelial Migration of Leukocytes

    2 Cell Signaling Technology (CST) Pathways for GSN
        Ca, cAMP and Lipid Signaling
    Cytoskeletal Signaling

    Selected BioSystems Pathways for GSN (see all 7)
        Senescence and Autophagy
    Regulation of Actin Cytoskeleton
    N-cadherin signaling events
    Caspase cascade in apoptosis
    EGF receptor (ErbB1) signaling pathway


    2 Reactome Pathways for GSN
        Amyloids
    Caspase-mediated cleavage of cytoskeletal proteins


    3 Kegg Pathways  (Kegg details for GSN):
        Fc gamma R-mediated phagocytosis
    Regulation of actin cytoskeleton
    Viral carcinogenesis


    GSN for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GSN: 
              Cytoskeleton Regulators in human mouse rat
              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GSN

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

    Selected Interacting proteins for GSN (P063961, 2, 3 ENSP000003629244) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494071, 3EBI-351506,EBI-743313 I2D: score=1 
    ARRB2P321211, 3EBI-351506,EBI-714559 I2D: score=1 
    ACTA1P681332, 3, ENSP000003556454MINT-24898 I2D: score=5 STRING: ENSP00000355645
    VDAC1P217962, 3, ENSP000002653334MINT-4792996 I2D: score=4 STRING: ENSP00000265333
    ACTN4O437073, ENSP000002526994I2D: score=3 STRING: ENSP00000252699
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007568aging IEA--
    GO:0008154actin polymerization or depolymerization ----
    GO:0014003oligodendrocyte development IEA--

    GSN for ontologies           About GeneDecksing



    (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 GSN (GELS)

    1 HMDB Compound for GSN    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for GSN    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Latrunculin A-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for GSN gene (see all 78)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kabiramide c 85.6 3 16287234 (1), 14612571 (1)
    pip2 79.4 45 9265648 (4), 9252353 (3), 1313007 (3), 1318302 (3) (see all 24)
    phalloidin 68.2 15 8987989 (3), 7806519 (2), 12475760 (2), 1661732 (2) (see all 9)
    apicidin 57.5 10 17257588 (5), 11085529 (3)
    deoxypodophyllotoxin 51.2 2 11455440 (1)
    cytochalasin d 51.1 5 12475760 (2), 9464993 (1), 11016945 (1), 14742433 (1)
    phosphoinositide 50.6 13 11090061 (3), 11170411 (3), 8641669 (1), 10429191 (1) (see all 8)
    calcium 45.4 190 9398317 (7), 8386174 (6), 10336615 (5), 12752443 (5) (see all 67)
    jasplakinolide 40 3 10828033 (2), 15591047 (1)
    potassium acetate 36.7 1 8425898 (1)



    GSN for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GSN gene (10 alternative transcripts): 
    NM_000177.4  NM_001127662.1  NM_001127663.1  NM_001127664.1  NM_001127665.1  NM_001127666.1  NM_001127667.1  NM_001258029.1  
    NM_001258030.1  NM_198252.2  

    Unigene Cluster for GSN:

    Gelsolin
    Hs.522373  [show with all ESTs]
    Unigene Representative Sequence: AF220263
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000434663 ENST00000373823(uc004bld.1 uc011lyj.1) ENST00000449773
    ENST00000432226 ENST00000477863 ENST00000483960 ENST00000475428 ENST00000477104
    ENST00000373818(uc004blf.1) ENST00000485767 ENST00000373807(uc004blg.1)
    ENST00000373806 ENST00000373805 ENST00000477553 ENST00000545652 ENST00000436847(uc010mvq.1)
    ENST00000394353(uc010mvr.1) ENST00000449733(uc010mvu.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat GSN using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GSN:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGSN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GSN
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 8): GSN (NM_001127665)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GSN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSN
    Primer
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    OriGene qPCR primer pairs and template standards for GSN
    OriGene qSTAR qPCR primer pairs in human, mouse for GSN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GSN
      QuantiTect SYBR Green Assays in human, mouse, rat GSN
      QuantiFast Probe-based Assays in human, mouse, rat GSN

    Additional mRNA sequence: 

    AF220263.1 AK096280.1 AK295201.1 AK295572.1 AK297870.1 AK299453.1 AK300631.1 AK304629.1 
    AK304675.1 AK307859.1 AK315494.1 AL832614.1 BC017491.1 BC026033.1 BX647999.1 X04412.1 

    Selected DOTS entries (see all 67):

    DT.100881707  DT.91894886  DT.453410  DT.100881695  DT.91771655  DT.95354439  DT.97860794  DT.100881704 
    DT.95309109  DT.100881699  DT.121211956  DT.121211910  DT.100881698  DT.121211858  DT.100039145  DT.121211779 
    DT.100881713  DT.95206638  DT.87017285  DT.91862299  DT.437979  DT.100881709  DT.121211776  DT.100881693 

    Selected AceView cDNA sequences (see all 954):

    BQ930331 BQ686223 BP350063 BQ960184 CA308175 AI192160 BM709113 CB269984 
    BQ883304 BG764024 BM758590 BQ682883 BQ720082 AV645939 BM770309 BM930681 
    N54948 BU617785 AW043774 CB270013 AW516918 BM672813 AL597957 BM986876 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GSN (see all 44)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a · 15b ·
    SP1:              -     -     -     -                 -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -         
    SP2:                          -     -                 -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -         
    SP3:                                                                                                                                -     -     -     -         
    SP4:                                                                                                                                                            
    SP5:                                                  -     -     -                 -     -     -     -           -     -     -                       -         

    ExUns: 15c · 15d · 15e ^ 16 ^ 17a · 17b · 17c · 17d · 17e · 17f · 17g ^ 18a · 18b · 18c · 18d · 18e ^ 19a · 19b ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c · 21d ^
    SP1:                                                                    -                                         -                       -                     
    SP2:                                                                    -                                         -                       -                     
    SP3:                                                                    -                                         -                       -                     
    SP4:                                                                                                                                      -                     
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c
    SP1:                                            -                 -           -     -                       -                     
    SP2:                                            -                 -           -     -                       -                     
    SP3:                                            -                 -           -     -                       -                     
    SP4:                                            -                 -           -     -                                             
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for GSN

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


    GSN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Chondrocytes Zeugopod Epiphyseal End
             Bone Marrow
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebellum
     
     Kidney (Urinary System)
             Metanephros
    GSN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GSN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522373

    UniProtKB/Swiss-Prot: GELS_HUMAN, P06396
    Tissue specificity: Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GSN: 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSN

    (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 GSN gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gsn1 , 5 gelsolin1, 5 88.98(n)1
    93.54(a)1
      2 (23.50 cM)5
    2277531  NM_146120.41  NP_666232.21 
     352796635 
    chicken
    (Gallus gallus)
    Aves GSN1 gelsolin 73.41(n)
    80.3(a)
      395774  NM_204934.1  NP_990265.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    39(a)
    many ↔ many
    6(1133594-1177484)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978952 gelsolin (AA=417) 78.41(n)    M36652.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF175294.12   -- 75.8(n)   323285  AF175294.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GSN gene
    SVIL2  FLII2  VILL2  AVIL2  SCIN2  CAPG2  VIL12  
    7 SIMAP similar genes for GSN using alignment to 7 protein entries:     GELS_HUMAN (see all proteins):
    DKFZp313L0718    SCIN    CAPG    AVIL    VIL1    FLII
    VILL

    GSN for paralogs           About GeneDecksing



    (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 GSN (see all 1423)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363384
    A breast cancer sample4--see VAR_0363382 T I mis40--------
    VAR_0363394
    A breast cancer sample4--see VAR_0363392 S N mis40--------
    VAR_0077194
    Amyloidosis 5 (AMYL5)4--see VAR_0077192 D Y mis40--------
    VAR_0077184
    Amyloidosis 5 (AMYL5)4--see VAR_0077182 D N mis40--------
    VAR_0363374
    A breast cancer sample4--see VAR_0363372 S L mis40--------
    rs1219097151,2
    Cpathogenic1124085398(+) ATGGCA/G/TACTGC 30 N D Y mis10--------
    rs48378311,2
    C,A,H--93663736(+) TCATTC/TATTCA 7 -- int12Minor allele frequency- T:0.25NA 4
    rs557645681,2
    C--124040198(+) AACAA-/ACAA  
            
    GGAAG
    7 -- int10--------
    rs736604251,2
    C--124040838(+) TCCATC/TGTGAT 7 -- us2k14Minor allele frequency- T:0.08WA NA EA 360
    rs1437034641,2
    --124040960(+) TGCCGA/GGGCTT 7 -- us2k10--------

    HapMap Linkage Disequilibrium report for GSN (123970072 - 124095121 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GSN:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270375CNV Insertion20981092
    nsv893813CNV Gain21882294

    Human Gene Mutation Database (HGMD): GSN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GSN
    DNA2.0 Custom Variant and Variant Library Synthesis for GSN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137350   
    OMIM disorders: 105120  
    UniProtKB/Swiss-Prot: GELS_HUMAN, P06396
  • Amyloidosis 5 (AMYL5) [MIM:105120]: A hereditary generalized amyloidosis due to gelsolin amyloid
    deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have
    modest involvement of internal organs, but severe systemic disease can develop in some individuals causing
    peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GSN (see all 92):    
    About MalaCards
    amyloidosis    finnish type amyloidosis    familial amyloidosis, finnish type    blepharochalasis
    lattice corneal dystrophy type ii    hereditary amyloidosis    amyloid neuropathy    amyloidosis corneal
    lattice corneal dystrophy    facial paralysis    corneal disease    myofibrillar myopathy
    polyneuropathy    familial mediterranean fever    renal clear cell carcinoma    cutis laxa
    corneal dystrophy    autonomic dysfunction    inverted papilloma    keratoconus

    5 diseases from the University of Copenhagen DISEASES database for GSN:
    Amyloidosis     Corneal dystrophy     Cutis laxa     Polyneuropathy
    Blepharochalasis

    GSN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for GSN gene (see all 68)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    finnish type amyloidosis 94.8 15 2162627 (2), 7672107 (1), 11226199 (1), 8243656 (1) (see all 12)
    amyloidosis familial 94.4 37 7683843 (2), 8395367 (2), 2162627 (2), 1315488 (1) (see all 32)
    lattice corneal dystrophy 89.5 12 19832730 (2), 10767822 (1), 8110676 (1), 7683843 (1) (see all 7)
    amyloidosis hereditary 80.6 8 1849145 (3), 2176164 (2), 11849445 (1), 20376775 (1) (see all 5)
    amyloidosis 74.3 75 19440061 (4), 19701715 (4), 19842787 (3), 17453628 (3) (see all 31)
    type iv familial amyloid polyneuropathy 73.9 1 2176550 (1)
    neuropathies cranial 69.1 1 10767822 (1)
    amyloid neuropathies 66.9 3 8599717 (1), 8388189 (1), 12766975 (1)
    familial amyloid polyneuropathies 64.2 5 1848334 (2), 16870032 (1), 8293178 (1), 14639586 (1)
    amyloidosis systemic 61.4 1 11401442 (1)

    Genetic Association Database (GAD): GSN
    Human Genome Epidemiology (HuGE) Navigator: GSN (1 document)

    Export disorders for GSN 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 GSN gene, integrated from 10 sources (see all 548):
    (articles sorted by number of sources associating them with GSN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of Tyr438 as the major in vitro c-Src phosphorylation site in human gelsolin: a mass spectrometric approach. (PubMed id 10210201)1, 2, 9 De Corte V....Vandekerckhove J. (Protein Sci. 1999)
    2. Functional consequences of disulfide bond formation in gelsolin. (PubMed id 9003812)1, 2, 9 Allen P.G. (FEBS Lett. 1997)
    3. Spectroscopic studies of a phosphoinositide-binding peptide from gelsolin: behavior in solutions of mixed solvent and anionic micelles. (PubMed id 8599675)1, 2, 9 Xian W.... Braunlin W.H. (Biophys. J. 1995)
    4. Structure of gelsolin segment 1-actin complex and the mechanism of filament severing. (PubMed id 8395021)1, 2, 9 McLaughlin P.J.... Weeds A.G. (Nature 1993)
    5. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. (PubMed id 1338910)1, 2, 9 de la Chapelle A.... Kere J. (Nat. Genet. 1992)
    6. Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. (PubMed id 1652889)1, 3, 9 Hiltunen T....Peltonen L. (Am. J. Hum. Genet. 1991)
    7. Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. (PubMed id 2176481)1, 2, 9 Ghiso J.... Frangione B. (Biochem. J. 1990)
    8. Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. (PubMed id 2157434)1, 2, 9 Haltia M....Frangione B. (Biochem. Biophys. Res. Commun. 1990)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
    About This Section

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    Entrez Gene: 2934 HGNC: 4620 AceView: GSN Ensembl:ENSG00000148180 euGenes: HUgn2934
    ECgene: GSN Kegg: 2934 H-InvDB: GSN

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for GSN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GSN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GSN[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Gelsolin

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

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



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