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 fo... See more...

Aliases for GSN Gene

Aliases for GSN Gene

  • Gelsolin 2 3 4 5
  • Actin-Depolymerizing Factor 3 4
  • Brevin 3 4
  • AGEL 3 4
  • ADF 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Gelsolin (Amyloidosis, Finnish Type) 2
  • Amyloidosis, Finnish Type 2
  • DKFZp313L0718 2
  • GSN 5

External Ids for GSN Gene

Previous GeneCards Identifiers for GSN Gene

  • GC09P115166
  • GC09P115708
  • GC09P117515
  • GC09P119438
  • GC09P119406
  • GC09P121109
  • GC09P123070
  • GC09P123971
  • GC09P093648
  • GC09P121207

Summaries for GSN Gene

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, Finnish Type and Lattice Corneal Dystrophy Type Ii. Among its related pathways are Integrin Pathway and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is SCIN.

UniProtKB/Swiss-Prot Summary for GSN Gene

  • 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSN Gene

Genomics for GSN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSN

Top Transcription factor binding sites by QIAGEN in the GSN gene promoter:
  • Evi-1
  • GATA-1
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Sp1

Genomic Locations for GSN Gene

Latest Assembly
chr9:121,201,483-121,332,844
(GRCh38/hg38)
Size:
131,362 bases
Orientation:
Plus strand

Previous Assembly
chr9:123,963,761-124,095,120
(GRCh37/hg19 by Entrez Gene)
Size:
131,360 bases
Orientation:
Plus strand

chr9:123,970,072-124,095,121
(GRCh37/hg19 by Ensembl)
Size:
125,050 bases
Orientation:
Plus strand

Genomic View for GSN Gene

Genes around GSN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GSN Gene

Proteins for GSN Gene

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

    Protein Symbol:
    P06396-GELS_HUMAN
    Recommended name:
    Gelsolin
    Protein Accession:
    P06396
    Secondary Accessions:
    • A2A418
    • A8MUD1
    • A8MYN7
    • B7Z373
    • B7Z5V1
    • F5H1A8
    • Q5T0I2
    • Q8WVV7

    Protein attributes for GSN Gene

    Size:
    782 amino acids
    Molecular mass:
    85698 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for GSN Gene

    Alternative splice isoforms for GSN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSN Gene

Post-translational modifications for GSN Gene

  • Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.
  • Glycosylation at Ser35 and Thr431
  • Ubiquitination at Lys584
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for GSN Gene

Domains & Families for GSN Gene

Gene Families for GSN Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GSN Gene

InterPro:
Blocks:
  • Gelsolin family signature
  • Gelsolin region

Suggested Antigen Peptide Sequences for GSN Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ43831 fis, clone TESTI4005534, highly similar to Gelsolin (A2A418_HUMAN)
  • cDNA FLJ53332, highly similar to Gelsolin (B7Z373_HUMAN)
  • Brevin (GELS_HUMAN)
  • cDNA, FLJ96557, Homo sapiens gelsolin (amyloidosis, Finnish type) (GSN), mRNA (Q5T0I2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06396

UniProtKB/Swiss-Prot:

GELS_HUMAN :
  • Belongs to the villin/gelsolin family.
Family:
  • Belongs to the villin/gelsolin family.
genes like me logo Genes that share domains with GSN: view

Function for GSN Gene

Molecular function for GSN Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for GSN Gene

Gene Ontology (GO) - Molecular Function for GSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,IDA 18266911
GO:0005509 calcium ion binding TAS,IMP 14596804
GO:0005515 protein binding IPI 10793131
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IBA 21873635
GO:0036313 phosphatidylinositol 3-kinase catalytic subunit binding IPI 30568254
genes like me logo Genes that share ontologies with GSN: view
genes like me logo Genes that share phenotypes with GSN: view

Human Phenotype Ontology for GSN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GSN Gene

MGI Knock Outs for GSN:
  • Gsn Gsn<tm1Djk>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSN

Clone products for research

  • Addgene plasmids for GSN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GSN Gene

Localization for GSN Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSN Gene

[Isoform 2]: Cytoplasm, cytoskeleton.
[Isoform 1]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSN gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
endoplasmic reticulum 3
mitochondrion 2
nucleus 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0002102 podosome IDA 24236012
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space IEA,IDA 14596804
GO:0005634 colocalizes_with nucleus IDA 23729654
genes like me logo Genes that share ontologies with GSN: view

Pathways & Interactions for GSN Gene

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

Pathways by source for GSN Gene

7 Qiagen pathways for GSN Gene
  • Actin-Based Motility by Rho Family GTPases
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Guidance Cues and Growth Cone Motility
  • Integrin Pathway
2 Cell Signaling Technology pathways for GSN Gene

SIGNOR curated interactions for GSN Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for GSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006911 phagocytosis, engulfment ISS --
GO:0006915 apoptotic process IEA --
GO:0007417 central nervous system development IBA 21873635
GO:0007568 aging IEA --
GO:0008154 actin polymerization or depolymerization IBA 21873635
genes like me logo Genes that share ontologies with GSN: view

Drugs & Compounds for GSN Gene

(37) Drugs for GSN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0
Latrunculin A Experimental Pharma Target Inhibitor of actin assembly and polymerization 0
Calcium Nutra 6959

(45) Additional Compounds for GSN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GSN: view

Transcripts for GSN Gene

mRNA/cDNA for GSN Gene

36 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSN

Clone products for research

  • Addgene plasmids for GSN

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

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: - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12:
SP13:
SP14: - - - - - - - - - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - - -
SP16: - - - - - -
SP17: - - - - - - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - - - - -
SP21: - - - - - - - - - - - - - - - - -
SP22: - - - - - - - - - - - - - - - - - -
SP23: - - - - - - - - - - - - - - - - - - - - -
SP24: - - - - - - - - - - - - - - - - - -
SP25: - - - - - - - - - - - - - - - - -
SP26: - - - - - - - - - - - - - - - - - -
SP27:
SP28: - - - - - - - - - - - - - - - - - - -
SP29: - - - - - - - - - - - - - - - - - - - -
SP30: - - - - - - - - - - - - - - - -
SP31: - - - - - - - - - - - - -
SP32: - - - - - - - - - - - - - -
SP33: - - - - - - - -
SP34: - - - - - - - - -
SP35: - - - - - - - - - - - - - - - - - -
SP36: - - - - - - - - - - - - - - - - - - -
SP37: - - - - - - - - - - - - - - - - - -
SP38:
SP39: - - - - - - - - - - - - -
SP40:
SP41:
SP42:
SP43: -
SP44:

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:
SP6: -
SP7: -
SP8: -
SP9:
SP10: -
SP11: - -
SP12: - - - - - -
SP13:
SP14: - - - - - - - - - - - - -
SP15: -
SP16: -
SP17:
SP18: -
SP19: - - - - -
SP20: - - - - - - - - - - - - - -
SP21:
SP22:
SP23: - -
SP24:
SP25:
SP26:
SP27:
SP28: - - - - -
SP29: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP30:
SP31:
SP32: -
SP33: -
SP34: -
SP35:
SP36:
SP37:
SP38:
SP39:
SP40:
SP41: - -
SP42:
SP43:
SP44:

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: - - -
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:
SP35:
SP36:
SP37:
SP38:
SP39:
SP40:
SP41:
SP42: -
SP43:
SP44:

Relevant External Links for GSN Gene

GeneLoc Exon Structure for
GSN

Expression for GSN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Atrial Appendage (x4.6).

Protein differential expression in normal tissues from HIPED for GSN Gene

This gene is overexpressed in Serum (7.8) and Platelet (6.0).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSN

SOURCE GeneReport for Unigene cluster for GSN Gene:

Hs.522373

mRNA Expression by UniProt/SwissProt for GSN Gene:

P06396-GELS_HUMAN
Tissue specificity: Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.

Evidence on tissue expression from TISSUES for GSN Gene

  • Nervous system(5)
  • Intestine(4.9)
  • Pancreas(4.9)
  • Blood(4.8)
  • Skin(4.7)
  • Liver(4.6)
  • Kidney(4.5)
  • Eye(4.4)
  • Heart(4.1)
  • Lung(4.1)
  • Stomach(3.9)
  • Muscle(3.7)
  • Spleen(3.1)
  • Adrenal gland(2.9)
  • Thyroid gland(2.8)
  • Bone marrow(2.8)
  • Lymph node(2.8)
  • Gall bladder(2.2)
  • Bone(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GSN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tongue
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with GSN: view

No data available for Protein tissue co-expression partners for GSN Gene

Orthologs for GSN Gene

This gene was present in the common ancestor of animals.

Orthologs for GSN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GSN 29 30
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GSN 29 30
  • 91.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GSN 29 30
  • 89.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gsn 29
  • 89.24 (n)
Mouse
(Mus musculus)
Mammalia Gsn 29 16 30
  • 88.98 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30