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

GSN Gene

protein-coding   GIFtS: 68
GCID: GC09P123971

gelsolin

(Previous names: gelsolin (amyloidosis, Finnish type) )
 Explore 83 diseases affiliated with
GSN via our new
 Human Malady Compendium 
Biological research products
for GSN
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Gelsolin1     DKFZp313L07181
Actin-Depolymerizing Factor2 3     Gelsolin (Amyloidosis, Finnish Type)1
ADF2 3     Brevin3
AGEL2 3     Brevin3

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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
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:
123,970,075 bp from pter      End:
124,095,121 bp from pter
Size:
125,047 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
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

Post-translational modifications:

  • Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P06396

  • GSN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000362911   ENSP00000445823   ENSP00000411293   ENSP00000377882  
     ENSP00000409358   ENSP00000416586   ENSP00000340888   ENSP00000362914  
    Reactome Protein details: P06396
    Human Recombinant Protein Products: 
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    Novus Biologicals GSN Proteins
    Novus Biologicals GSN Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GSN for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR007122 Gelsolin
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry P06396

    ProtoNet protein and cluster: P06396

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

    miRNA
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    miRTarBase miRNAs that target GSN:
    hsa-mir-124 (MIRT002639)

    OriGene 3'-UTR Clone (see all 8): GSN
    Browse MicroRNA Expression Plasmids
    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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GSN (see all 7)
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 8): GSN (NM_001127665)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GSN 

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

    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


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

    Animal Models:
         Mouse knock-out Gsntm1Djk for GSN
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/20 super-pathways (see all 20About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins1.00
    Caspase-mediated cleavage of cytoskeletal proteins0.32
    Apoptotic execution phase0.73
    2Amyloid precursor proteins form ordered fibrils
    Amyloid precursor proteins form ordered fibrils1.00
    Amyloids0.43
    3Integrin Pathway
    Integrin Pathway1.00
    Transendothelial Migration of Leukocytes0.38
    4Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton1.00
    Regulation of actin cytoskeleton0.58
    5Cytoskeletal Signaling
    Cytoskeletal Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    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
    Caspase cascade in apoptosis
    EGF receptor (ErbB1) signaling pathway
    Osteopontin-mediated events

    5/7        Reactome Pathways for GSN (see all 7)
        Amyloids
    Amyloid precursor proteins form ordered fibrils
    Apoptotic execution phase
    Apoptotic cleavage of cellular proteins
    Caspase-mediated cleavage of cytoskeletal proteins


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


    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-2561130 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, 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

    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 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 235 Homo sapiens; Mar 10 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,
    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, 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
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    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) ENST00000412819(uc010mvs.1)

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate GSN:
    hsa-miR-124 hsa-miR-506
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    Inhib. RNA
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    Additional cDNA 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):

    AJ574512 BQ678899 AA743280 N54948 AJ573228 BM663114 BM758042 AL047355 
    BF928277 AI460213 BU620811 BQ685383 BM664179 CA427016 BM669896 BP371939 
    F27467 AL602858 BM783032 CB270013 BI819590 BU788993 BU172279 BM672813 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCACCGGTCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GSN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    HeartMyocardiumMature Cardiac FibroblastsEpicardium
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
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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 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gel3 actin binding 37(a)   82A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea K06A4.33 gelsolin 38(a)   V(9499695-9501863)   --
    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  AVIL2  VILL2  SCIN2  VIL12  CAPG2  
    7 SIMAP similar genes for GSN using alignment to 7 protein entries:     GELS_HUMAN (see all proteins):
    DKFZp313L0718    SCIN    CAPG    AVIL    VIL1    VILL
    FLII

    GSN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1167 NCBI SNPs in GSN are shown (see all 1167    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219097151,2
    Cpathogenic94678501(+) ATGGCA/G/TACTGC 27 N D Y mis10--------
    rs569072061,2
    --93646874(+) GCATGA/GGGCAT 7 -- us2k10--------
    rs1115293271,2
    --93648374(+) GTCCTG/ATCTCG 7 -- int11Minor allele frequency- A:0.50CSA 2
    rs109851951,2
    H--93648911(+) AACCCC/TTTCTC 7 -- int1 trp34Minor allele frequency- T:0.00NS EA 414
    rs736604261,2
    C,--93649102(+) TCTGCG/CCAGAC 7 -- int11Minor allele frequency- C:0.50WA 2
    rs736604271,2
    C,--93651569(+) GCTGAC/ATAACA 7 -- int11Minor allele frequency- A:0.50WA 2
    rs1164123071,2
    C,F,--93651595(+) GGCTAT/CTGGGT 7 -- int11Minor allele frequency- C:0.03WA 118
    rs774757171,2
    --93651956(+) CTGGTA/C/TCCCCC 7 -- int11NA 2
    rs736604281,2
    C,--93652703(+) GATTTG/CTTGAT 7 -- int12Minor allele frequency- C:0.04WA 120
    rs120060641,2
    C,F,H,--93652852(+) TTTTAC/TAGATG 7 -- int11Minor allele frequency- T:0.06WA 118

    HapMap Linkage Disequilibrium report for GSN (123970075 - 124095121 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GSN: --
    Human Gene Mutation Database (HGMD): GSN

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GSN for disorders           About GeneDecksing

    OMIM gene information: 137350   
    OMIM disorders: 105120  
    UniProtKB/Swiss-Prot: GELS_HUMAN, P06396
  • Defects in GSN are the cause of amyloidosis type 5 (AMYL5) [MIM:105120]; also known as familial amyloidosis
  • Finnish type. AMYL5 is 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

    20/83 diseases for GSN (see all 83):    About MalaCards
    amyloidosis    lattice corneal dystrophy    lattice corneal dystrophy type ii    finnish type amyloidosis
    corneal dystrophy    wiskott-aldrich syndrome    cutis laxa    familial mediterranean fever
    inclusion body myositis    cerebral amyloid angiopathy    amyloidosis corneal    renal clear cell carcinoma
    amyloid neuropathy    sensorineural hearing loss    facial paralysis    blepharochalasis
    bladder transitional cell carcinoma    autonomic dysfunction    myofibrillar myopathy    hearing loss

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

    10/68 Novoseek 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)

    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 535):
    (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. 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)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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