Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2934
Gene name Gene Name - the full gene name approved by the HGNC.
Gelsolin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GSN
Synonyms (NCBI Gene) Gene synonyms aliases
ADF, AGEL, AMYLD4
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137350 4620 ENSG00000148180
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyloidosis amyloidosis, Finnish type amyloidosis N/A N/A ClinVar, GenCC
Associations from Text Mining Disease 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