Gene Gene information from NCBI Gene database.
Entrez ID 2934
Gene name Gelsolin
Gene symbol GSN
Synonyms (NCBI Gene)
ADFAGELAMYLD4
Chromosome 9
Chromosome location 9q33.2
Summary 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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121909715 G>A,T Pathogenic Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant, missense variant
rs1554821138 C>- Likely-pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
138
miRTarBase ID miRNA Experiments Reference
MIRT002639 hsa-miR-124-3p Microarray 15685193
MIRT018068 hsa-miR-335-5p Microarray 18185580
MIRT002639 hsa-miR-124-3p Microarray 18668037
MIRT002639 hsa-miR-124-3p Microarray 15685193
MIRT629489 hsa-miR-8485 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
91
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IDA
GO:0003779 Function Actin binding IDA 18266911
GO:0003779 Function Actin binding IEA
GO:0005509 Function Calcium ion binding IMP 14596804
GO:0005509 Function Calcium ion binding TAS 1321812
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137350 4620 ENSG00000148180
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06396
Protein name Gelsolin (AGEL) (Actin-depolymerizing factor) (ADF) (Brevin)
Protein 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 wel
PDB 1C0F , 1C0G , 1D4X , 1DEJ , 1EQY , 1ESV , 1H1V , 1KCQ , 1MDU , 1NLV , 1NM1 , 1NMD , 1P8X , 1P8Z , 1SOL , 1T44 , 1YAG , 1YVN , 2FF3 , 2FF6 , 2FH1 , 2FH2 , 2FH3 , 2FH4 , 3A5L , 3A5M , 3A5N , 3A5O , 3CI5 , 3CIP , 3CJB , 3CJC , 3FFK , 3FFN , 3TU5 , 4PKG , 4PKH , 4PKI , 4S10 , 4Z94 , 5FAE , 5FAF , 5H3M , 5H3N , 5O2Z , 5UBO , 5ZZ0 , 6H1F , 6JCO , 6JEG , 6JEH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00626 Gelsolin 75 158 Gelsolin repeat Domain
PF00626 Gelsolin 196 271 Gelsolin repeat Domain
PF00626 Gelsolin 313 390 Gelsolin repeat Domain
PF00626 Gelsolin 454 536 Gelsolin repeat Domain
PF00626 Gelsolin 574 642 Gelsolin repeat Domain
PF00626 Gelsolin 679 757 Gelsolin repeat Domain
Tissue specificity TISSUE SPECIFICITY: Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.
Sequence
MAPHRPAPALLCALSLALCALSLPVRAATASRGASQAGAPQGRVPEARPNSMVVEHPEFL
KAGKEPGLQIWRVEKFDLVPVPTNLYGDFFTGDAYVILKTVQLRNGNLQYDLHYWLGNEC
SQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFL
GYFKSGLKYKKGGVASGFKHVV
PNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKA
TQVSKGIRDNERSGRARVHVSEEGTEPEAML
QVLGPKPALPAGTEDTAKEDAANRKLAKL
YKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALK
TASDFITKMDYPKQTQVSVLPEGGETPLFK
QFFKNWRDPDQTDGLGLSYLSSHIANVERV
PFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGGDSYIILYNY
RHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSRVVQGKEPAHLM
SLFG
GKPMIIYKGGTSREGGQTAPASTRLFQVRANSAGATRAVEVLPKAGALNSNDAFVLKTPS
AAYLWVGTGASEAEKTGAQELLRVLRAQPVQVAEGSEPDGFW
EALGGKAAYRTSPRLKDK
KMDAHPPRLFACSNKIGRFVIEEVPGELMQEDLATDDVMLLDTWDQVFVWVGKDSQEEEK
TEALTSAKRYIETDPANRDRRTPITVVKQGFEPPSFV
GWFLGWDDDYWSVDPLDRAMAEL
AA
Sequence length 782
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Viral carcinogenesis
  Caspase-mediated cleavage of cytoskeletal proteins
Neutrophil degranulation
Amyloid fiber formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
304
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Finnish type amyloidosis Pathogenic; Likely pathogenic rs2133433678, rs1564564688, rs2059635206, rs121909715 RCV005042601
RCV003138161
RCV003158015
RCV000017564
RCV000017565
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2304393 RCV005900487
Adrenocortical carcinoma, hereditary Benign rs2304393 RCV005900488
Amyloidosis Uncertain significance; Benign rs745588757, rs147410423, rs71680051, rs751044080, rs886063408, rs886063409, rs886063410 RCV000283584
RCV000402364
RCV000305154
RCV000359616
RCV000395703
RCV000335203
RCV000298820
RCV000300139
RCV000264032
RCV000359858
Cervical cancer Benign; Likely benign rs149375418, rs143590302 RCV005900484
RCV005906000
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 10767822, 16475811, 1652889, 1849145, 19904968, 24747948, 32861330
Acute Coronary Syndrome Associate 34002800
Adenocarcinoma Associate 30097534
Adenocarcinoma of Lung Associate 28404947
Adenoma Associate 37365287
Alzheimer Disease Associate 24756957, 36650038
Amyloidosis Associate 10729296, 10970804, 1652889, 20740538, 24601799, 29069428, 29167514, 29455155, 31243148, 33499149, 33908214, 9109384
Amyloidosis Familial Associate 10729296, 10767822, 11849445, 1319113, 1652889, 1849145, 2175344, 2176164, 2176481, 22068858, 26915616, 28039894, 29455155, 31243148, 32368002
View all (3 more)
Amyloidosis familial visceral Associate 20951486, 24601799, 27633054
Amyloidosis Hereditary Transthyretin Related Associate 20937937