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Aliases for GSN Gene

Aliases for GSN Gene

  • Gelsolin 2 3
  • 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

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 lattice corneal dystrophy type ii and amyloidosis, finnish type. Among its related pathways are Regulation of actin cytoskeleton and Regulation of actin cytoskeleton. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is AVIL.

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

Genomic Location for GSN Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GSN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSN Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys584

No data available for DME Specific Peptides for GSN Gene

Domains for GSN Gene

UniProtKB/Swiss-Prot:

GELS_HUMAN
Family:
  • Belongs to the villin/gelsolin family.:
    • P06396
Similarity:
  • Contains 6 gelsolin-like repeats.:
    • P06396
genes like me logo Genes that share domains with GSN: view

No data available for Gene Families for GSN Gene

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.

Gene Ontology (GO) - Molecular Function for GSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 18266911
GO:0005509 calcium ion binding IMP 14596804
GO:0005515 protein binding IPI 17620599
GO:0019904 protein domain specific binding IPI 23729654
GO:0045159 myosin II binding IPI 23325791
genes like me logo Genes that share ontologies with GSN: view
genes like me logo Genes that share phenotypes with GSN: view

Animal Models for GSN Gene

MGI Knock Outs for GSN:

miRNA for GSN Gene

miRTarBase miRNAs that target GSN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
endoplasmic reticulum 2
golgi apparatus 2
nucleus 2
plasma membrane 2
lysosome 1
mitochondrion 1

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 TAS --
GO:0005615 extracellular space IDA 14596804
GO:0005634 colocalizes_with nucleus IDA 23729654
genes like me logo Genes that share ontologies with GSN: view

Pathways for GSN Gene

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

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:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0007568 aging IEA --
GO:0008154 actin polymerization or depolymerization --
genes like me logo Genes that share ontologies with GSN: view

Compounds for GSN Gene

(1) HMDB Compounds for GSN Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for GSN Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Latrunculin A
target

(78) Novoseek inferred chemical compound relationships for GSN Gene

Compound -log(P) Hits PubMed IDs
kabiramide c 85.6 2
pip2 79.4 35
phalloidin 68.2 14
apicidin 57.5 8
deoxypodophyllotoxin 51.2 1
genes like me logo Genes that share compounds with GSN: view

Transcripts for GSN Gene

Unigene Clusters for GSN Gene

Gelsolin:
Representative Sequences:

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 (4.6).

Integrated Proteomics: protein expression 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 expressions with GSN: view

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 36
  • 99.57 (n)
  • 99.74 (a)
GSN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GSN 36
  • 91.24 (n)
  • 95.8 (a)
GSN 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSN 36
  • 89.42 (n)
  • 94.92 (a)
GSN 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gsn 36
  • 88.98 (n)
  • 93.54 (a)
Gsn 16
Gsn 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GSN 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gsn 36
  • 89.24 (n)
  • 93.28 (a)
chicken
(Gallus gallus)
Aves GSN 36
  • 73.41 (n)
  • 80.3 (a)
GSN 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 39 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia LOC397895 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gsn 36
  • 70.24 (n)
  • 73.08 (a)
Str.1282 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
gsna 36
  • 68.68 (n)
  • 71.39 (a)
gsna 37
  • 74 (a)
OneToMany
gsnb 37
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gel 38
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea K06A4.3 38
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6001 37
  • 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

Selected 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 MAF
rs9102 -- 121,332,522(+) TCCTT(C/T)GTGGG synonymous-codon, reference
rs15034 -- 121,332,725(-) AAAAA(C/G)AAACA utr-variant-3-prime
rs177697 -- 121,321,812(+) GTCTC(A/G)CTCAC intron-variant
rs216784 -- 121,326,895(+) TTGCA(C/T)AGTGG intron-variant
rs306759 -- 121,314,538(-) ACAAC(A/G)TAAGT intron-variant

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

Relevant External Links for GSN Gene

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

Disorders for GSN Gene

(1) OMIM Diseases for GSN Gene (137350)

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.

(5) University of Copenhagen DISEASES for GSN Gene

(68) Novoseek inferred disease relationships for GSN Gene

Disease -log(P) Hits PubMed IDs
finnish type amyloidosis 94.8 13
amyloidosis familial 94.4 35
lattice corneal dystrophy 89.5 8
amyloidosis hereditary 80.6 8
amyloidosis 74.3 46

Relevant External Links for GSN

Genetic Association Database (GAD)
GSN
Human Genome Epidemiology (HuGE) Navigator
GSN
genes like me logo Genes that share disorders with GSN: view

Publications for GSN Gene

  1. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. (PMID: 1338910) de la Chapelle A. … Kere J. (Nat. Genet. 1992) 3 4 23
  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. Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. (PMID: 2157434) Haltia M. … Frangione B. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  4. Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. (PMID: 2176481) Ghiso J. … Frangione B. (Biochem. J. 1990) 3 4 23
  5. Spectroscopic studies of a phosphoinositide-binding peptide from gelsolin: behavior in solutions of mixed solvent and anionic micelles. (PMID: 8599675) Xian W. … Braunlin W.H. (Biophys. J. 1995) 3 4 23

Products for GSN Gene

  • Addgene plasmids for GSN

Sources for GSN Gene

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