FSCN3 (fascin actin-bundling protein 3)

Gene

• Entrez ID: 29999
• Gene name: Fascin actin-bundling protein 3
• Gene symbol: FSCN3
• Synonyms (NCBI Gene): -
• Chromosome: 7
• Chromosome location: 7q32.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IBA
GO:0003779	Function	Actin binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	10783262
GO:0005902	Component	Microvillus	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0016477	Process	Cell migration	IBA
GO:0030027	Component	Lamellipodium	IBA
GO:0030175	Component	Filopodium	IBA
GO:0030426	Component	Growth cone	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0031253	Component	Cell projection membrane	IBA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051017	Process	Actin filament bundle assembly	IBA

Other IDs

• MIM: 615800
• HGNC: 3961
• e!Ensembl: ENSG00000106328

Protein

• UniProt ID: Q9NQT6
• Protein name: Fascin-3 (Testis fascin)
• Protein function: Acts as an actin bundling protein.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06268	Fascin	24 → 138	Fascin domain	Domain
  PF06268	Fascin	271 → 381	Fascin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis.
• Sequence:

  MDETEWIHRHPKAEDLRVGLISWAGTYLTFEACKNTVTATAKSLGRRQTWEILVSNEHET
  QAVVRLKSVQGLYLLCECDGTVCYGRPRTSHHGCFLLRFHRNSKWTLQCLISGRYLESNG
  KDVFCTSHVLSAYHMWTPRPALHVHVILYSPIHRCYARADPTMGRIWVDAAVPCLEECGF
  LLHFRDGCYHLETSTHHFLSHVDRLFSQPSSQTAFHMQVRPGGLVALCDGEGGMLYPQGT
  HLLLGMGCNPMRGEEWFILQHCPTWVSLRSKTGRFISVIYDGEVRAASERLNRMSLFQFE
  CDSESPTVQLRSANGYYLSQRRHRAVMADGHPLESDTFFRMHWNCGRIILQSCRGRFLGI
  APNSLLMANVILPGPNEEFGILFANRSFLVLRGRYGYVGSSSGHDLIQCNQDQPDRIHLL
  PCRPGIYHFQAQGGSFWSITSFGTFRPWGKFALNFCIELQGSNLLTVLAPNGFYMRADQS
  GTLLADSEDITRECIWEF

• Sequence length: 498

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17029629		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26818947		★☆☆☆☆ Found in Text Mining only