InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FSCN2

Summary

InnateDB Protein

IDBP-385390.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FSCN2

Protein Name

fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)

Synonyms

RFSN; RP30;

Species

Homo sapiens

Ensembl Protein

ENSP00000388716

InnateDB Gene

IDBG-72335 (FSCN2)

Protein Structure

UniProt Annotation

Function

Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}.

Disease Associations

Retinitis pigmentosa 30 (RP30) [MIM:607921]: 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. {ECO:0000269PubMed:11527955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0030674	protein binding, bridging
GO:0051015	actin filament binding

Biological Process

GO:0007601	visual perception
GO:0009653	anatomical structure morphogenesis
GO:0030036	actin cytoskeleton organization
GO:0051017	actin filament bundle assembly