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Aliases for GSN Gene

Aliases for GSN Gene

  • Gelsolin 2 3 5
  • Actin-Depolymerizing Factor 3 4
  • Brevin 3 4
  • AGEL 3 4
  • ADF 3 4
  • Gelsolin (Amyloidosis, Finnish Type) 2
  • Finnish Type 2
  • Amyloidosis 2

External Ids for GSN Gene

Previous GeneCards Identifiers for GSN Gene

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

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 agel amyloidosis. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Transport to the Golgi and subsequent modification. GO annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is VIL1.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSN Gene

Genomics for GSN Gene

Regulatory Elements for GSN Gene

Genomic Location for GSN Gene

Chromosome:
9
Start:
121,207,794 bp from pter
End:
121,332,844 bp from pter
Size:
125,051 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

Proteomics data for GSN Gene at MOPED

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.
  • Ubiquitination at Lys 584
  • Glycosylation at Ser 35 and Thr 431
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GSN (Gelsolin)

No data available for DME Specific Peptides for GSN Gene

Domains & Families for GSN Gene

Gene Families for GSN Gene

Graphical View of Domain Structure for InterPro Entry

P06396

UniProtKB/Swiss-Prot:

GELS_HUMAN :
  • Belongs to the villin/gelsolin family.
  • Contains 6 gelsolin-like repeats.
Family:
  • Belongs to the villin/gelsolin family.
Similarity:
  • Contains 6 gelsolin-like repeats.
genes like me logo Genes that share domains with GSN: view

Function for GSN Gene

Molecular function for GSN Gene

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
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.
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:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GSN Gene COMPARTMENTS Subcellular localization image for GSN gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
plasma membrane 5
endoplasmic reticulum 2
golgi apparatus 2
nucleus 2
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IDA 24236012
GO:0005886 plasma membrane IDA 23575248
GO:0005925 focal adhesion IDA 21423176
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

SIGNOR curated interactions for GSN Gene

Is activated by:
Is inactivated by:

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 TAS --
GO:0012501 programmed cell death TAS --
GO:0014003 oligodendrocyte development IEA --
GO:0022617 NOT extracellular matrix disassembly IMP 24236012
genes like me logo Genes that share ontologies with GSN: view

Drugs & Compounds for GSN Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Latrunculin A Experimental Pharma Target Inhibitor of actin assembly and polymerization 0
calcium Nutra 0

(52) 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

Unigene Clusters for GSN Gene

Gelsolin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
GSN

Expression for GSN Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for GSN Gene



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.
genes like me logo Genes that share expression patterns with GSN: view

In Situ Assay Products

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 35
  • 99.57 (n)
  • 99.74 (a)
GSN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GSN 35
  • 91.24 (n)
  • 95.8 (a)
GSN 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSN 35
  • 89.42 (n)
  • 94.92 (a)
GSN 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gsn 16
Gsn 36
  • 93 (a)
OneToOne
Gsn 35
  • 88.98 (n)
  • 93.54 (a)
oppossum
(Monodelphis domestica)
Mammalia GSN 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gsn 35
  • 89.24 (n)
  • 93.28 (a)
chicken
(Gallus gallus)
Aves GSN 36
  • 76 (a)
OneToOne
GSN 35
  • 73.41 (n)
  • 80.3 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 39 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia LOC397895 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1282 35
gsn 35
  • 70.24 (n)
  • 73.08 (a)
zebrafish
(Danio rerio)
Actinopterygii gsnb 36
  • 67 (a)
OneToMany
gsna 36
  • 74 (a)
OneToMany
gsna 35
  • 68.68 (n)
  • 71.39 (a)
-- 35
fruit fly
(Drosophila melanogaster)
Insecta Gel 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea K06A4.3 37
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6001 36
  • 48 (a)
OneToMany
Species with no ortholog for GSN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GSN Gene

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

Paralogs for GSN Gene

Paralogs for GSN Gene

(7) SIMAP similar genes for GSN Gene using alignment to 7 proteins:

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

Variants for GSN Gene

Sequence variations from dbSNP and Humsavar for GSN Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_007718 Amyloidosis 5 (AMYL5)
VAR_007719 Amyloidosis 5 (AMYL5)
rs2230287 - 121,302,946(+) CGGCC(A/G)CCATC reference, missense
rs9696578 - 121,328,978(+) TCCTC(G/T)CCTCT reference, missense
VAR_036337 A breast cancer sample

Structural Variations from Database of Genomic Variants (DGV) for GSN Gene

Variant ID Type Subtype PubMed ID
esv270375 CNV Insertion 20981092
nsv893813 CNV Gain 21882294

Variation tolerance for GSN Gene

Residual Variation Intolerance Score: 93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.29; 85.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GSN Gene

HapMap Linkage Disequilibrium report
GSN
Human Gene Mutation Database (HGMD)
GSN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSN Gene

Disorders for GSN Gene

MalaCards: The human disease database

(34) MalaCards diseases for GSN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyloidosis, finnish type
  • finnish type amyloidosis
agel amyloidosis
  • familial amyloidosis, finnish type
lattice corneal dystrophy type ii
  • amyloidosis, finnish type
amyloidosis
  • amyloid disease
familial amyloidosis, finnish type
  • amyloidosis, meretoja type
- elite association - COSMIC cancer census association via MalaCards
Search GSN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GELS_HUMAN
  • 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. {ECO:0000269 PubMed:1338910, ECO:0000269 PubMed:2176481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GSN

Genetic Association Database (GAD)
GSN
Human Genome Epidemiology (HuGE) Navigator
GSN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSN
genes like me logo Genes that share disorders with GSN: view

No data available for Genatlas for GSN Gene

Publications for GSN Gene

  1. Identification of Tyr438 as the major in vitro c-Src phosphorylation site in human gelsolin: a mass spectrometric approach. (PMID: 10210201) De Corte V. … Vandekerckhove J. (Protein Sci. 1999) 3 4 23 67
  2. Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. (PMID: 1652889) Hiltunen T. … Peltonen L. (Am. J. Hum. Genet. 1991) 2 3 23
  3. Gelsolin regulates cardiac remodeling after myocardial infarction through DNase I-mediated apoptosis. (PMID: 19246681) Li G.H. … Liu P. (Circ. Res. 2009) 3 23
  4. Gelsolin levels are increased in the brain as a function of age during normal development in children that are further increased in Down syndrome. (PMID: 19561443) Ji L. … Chauhan V. (Alzheimer Dis Assoc Disord 2009) 3 23
  5. Ca2+ binding by domain 2 plays a critical role in the activation and stabilization of gelsolin. (PMID: 19666512) Nag S. … Robinson R.C. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23

Products for GSN Gene

Sources for GSN Gene

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