FSCN2

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.^[5][6]

FSCN2
Identifiers
Aliases	FSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDs	OMIM: 607643; MGI: 2443337; HomoloGene: 22722; GeneCards: FSCN2; OMA:FSCN2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 81,528,377 bp[1] End 81,537,130 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 120,252,360 bp[2] End 120,258,994 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle frontal gyrus body of pancreas right lobe of thyroid gland left lobe of thyroid gland stromal cell of endometrium Descending thoracic aorta ascending aorta canal of the cervix right uterine tube body of uterus Top expressed in neural layer of retina otolith organ utricle morula retinal pigment epithelium vestibular sensory epithelium embryo epithelium of lens muscle of thigh zygote More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding protein-macromolecule adaptor activity actin filament binding protein-containing complex binding Cellular component cell projection cytoskeleton stereocilium actin cytoskeleton filamentous actin cytoplasm Biological process actin filament organization anatomical structure morphogenesis actin cytoskeleton organization visual perception actin filament bundle assembly eye photoreceptor cell development establishment or maintenance of cell polarity cell migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25794 238021 Ensembl ENSG00000186765 ENSMUSG00000025380 UniProt O14926 Q32M02 RefSeq (mRNA) NM_001077182 NM_012418 NM_172802 RefSeq (protein) NP_001070650 NP_036550 NP_766390 Location (UCSC) Chr 17: 81.53 – 81.54 Mb Chr 11: 120.25 – 120.26 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene.^[6]