Entity Details

Primary name FSCN2
Entity type gene
Source Source Link

Details

PrimaryID25794
RefseqGeneNG_015964
SymbolFSCN2
Namefascin actin-bundling protein 2, retinal
Chromosome17
Location17q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFSCN2_HUMAN

GO terms

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GOName
GO:0003779 actin binding
GO:0005737 cytoplasm
GO:0007163 establishment or maintenance of cell polarity
GO:0007601 visual perception
GO:0009653 anatomical structure morphogenesis
GO:0015629 actin cytoskeleton
GO:0016477 cell migration
GO:0030036 actin cytoskeleton organization
GO:0030674 protein-macromolecule adaptor activity
GO:0032420 stereocilium
GO:0042462 eye photoreceptor cell development
GO:0051015 actin filament binding
GO:0051017 actin filament bundle assembly

Diseases

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Disease IDSourceNameDescription
607921 OMIMRetinitis pigmentosa 30 (RP30)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Interactions

10 interactions