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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GSN Gene

protein-coding   GIFtS: 71
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hereditary amyloidosis, and lattice corneal dystrophy type ii, and among its related super-pathways are Regulation of actin cytoskeleton and Apoptotic cleavage of cellular proteins. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GSN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Isoform 2: Cytoplasm, cytoskeleton
Subcellular location: Isoform 1: Secreted
6/35 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   (Initiator Met-1 may be either removed, or N-acetylated)

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

Explore proteomics data for GSN at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P06396

  • GSN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GSN Protein Expression
    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
    Human Recombinant Protein Products for GSN: 
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    OriGene MassSpec for GSN 
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    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. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

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

    GSN for ontologies           About GeneDecksing



    GSN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of GSN
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    Abcam antibodies for GSN
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    LSBio Antibodies in human, mouse, rat for GSN 

    Assay Products for GSN: 
    Browse Kits and Assays available from EMD Millipore
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    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for GSN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 (MIRT002639)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GSN
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate GSN:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGSN 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of GSN

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of GSN 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSN


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 proteins0.73
    Caspase-mediated cleavage of cytoskeletal proteins0.32
    Apoptotic execution phase0.73
    3Integrin Pathway
    Integrin Pathway0.67
    Transendothelial Migration of Leukocytes0.38
    4Apoptotic Pathways in Synovial Fibroblasts
    Actin-Based Motility by Rho Family GTPases0.62
    5BAFF in B-Cell Signaling
    RANK Signaling in Osteoclasts0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 Downloadable PowerPoint Slides of QIAGEN 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

    5/7 BioSystems Pathways for GSN (see all 7)
        Senescence and Autophagy
    Regulation of Actin Cytoskeleton
    Coregulation of Androgen receptor activity
    N-cadherin signaling events
    Osteopontin-mediated events


    5/6        Reactome Pathways for GSN (see all 6)
        Amyloids
    Apoptotic execution phase
    Apoptotic cleavage of cellular proteins
    Caspase-mediated cleavage of cytoskeletal proteins
    Apoptosis


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


    GSN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GSN

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

    5/82 Interacting proteins for GSN (P063961, 2, 3 ENSP000003629244) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    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): 5/17 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GSN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/78 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)

    Search CenterWatch for drugs/clinical trials and news about GSN / GELS

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/21 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)

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate GSN:
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    Inhib. RNA
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    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 

    24/67 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 

    24/954 AceView cDNA sequences (see all 954):

    BM849136 BM310357 AA887420 BQ686479 AA384912 BQ689435 CA395921 AW139065 
    AI597843 BP373513 CR618098 BM756150 CD516938 BM820532 BQ685383 BU731933 
    BI819590 BU616274 BQ679856 AA384501 BM834825 BI521682 AA340536 BP375583 

    GeneLoc Exon Structure

    5/44 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GSN expression in normal human tissues (normalized intensities)      GSN embryonic expression: see
    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 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Thalamus
             Trigeminal Ganglion   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 9 entries
             Intervertebral Disc Annulus Fibrosus Cells Lumbar Intervertebral Disc
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             synovial membrane   
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Chondrocytes Zeugopod Epiphyseal End
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             skeleton/cranium   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
             limb/hindlimb   

    See GSN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GSN

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including GSN: 
              Cytoskeleton Regulators in human mouse rat
              Neurotoxicity in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GSN gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gsn1 , 5 gelsolin1, 5 88.83(n)1
    93.2(a)1
      2 (23.50 cM)5
    2277531  NM_146120.41  NP_666232.21 
     352796635 
    chicken
    (Gallus gallus)
    Aves GSN1 gelsolin 72.53(n)
    79.1(a)
      395774  NM_204934.1  NP_990265.1 
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VLN41 villin 4 46.93(n)
    36.67(a)
      829139  NM_001203940.1  NP_001190869.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06593001 hypothetical protein 45.96(n)
    37.57(a)
      4341731  NM_001064798.1  NP_001058263.1 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1423 SNPs in GSN are shown (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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 20/82 diseases for GSN (see all 82):    About MalaCards
    hereditary amyloidosis    lattice corneal dystrophy type ii    finnish type amyloidosis    blepharochalasis
    amyloidosis    lattice corneal dystrophy    amyloid neuropathy    amyloidosis corneal
    facial paralysis    corneal disease    renal clear cell carcinoma    familial mediterranean fever
    myofibrillar myopathy    cutis laxa    corneal dystrophy    polyneuropathy
    autonomic dysfunction    keratoconus    cerebral amyloid angiopathy    bladder transitional cell carcinoma

    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:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/68 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)
    About This Section

    PubMed articles for GSN gene, integrated from 9 sources (see all 547):
    (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. (1999)
    2. Functional consequences of disulfide bond formation in gelsolin. (PubMed id 9003812)1, 2, 9 Allen P.G. (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. (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. (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. (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. (1991)
    7. Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. (PubMed id 2176481)1, 2, 9 Ghiso J.... Frangione B. (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. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 2934 HGNC: 4620 AceView: GSN Ensembl:ENSG00000148180 euGenes: HUgn2934
    ECgene: GSN Kegg: 2934 H-InvDB: GSN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/GSN
    Wikipedia http://en.wikipedia.org/wiki/Gelsolin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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