FSCN2
entrez
25794
canonical
uniprot
O14926
canonical
ensembl
ENSG00000186765
resolver
ensp
ENSP00000334665
resolver
ensp
ENSP00000388716
resolver
genesymbol
FSCN2
resolver
hgnc
HGNC:3960
resolver
uniprot
A0AVC4
resolver
uniprot
A8MRA6
resolver
uniprot_entry
FSCN2_HUMAN
resolver
uniprot_sec
A0AVC4
resolver
uniprot_sec
A8MRA6
resolver
amino_acid_sequence
MPTNGLHQVLKIQFGLVNDTDRYLTAESFGFKVNASAPSLKRKQTWVLEPDPGQGTAVLLRSSHLGRYLSAEEDGRVACEAEQPGRDCRFLVLPQPDGRWVLRSEPHGRFFGGTEDQLSCFATAVSPAELWTVHLAIHPQAHLLSVSRRRYVHLCPREDEMAADGDKPWGVDALLTLIFRSRRYCLKSCDSRYLRSDGRLVWEPEPRACYTLEFKAGKLAFKDCDGHYLAPVGPAGTLKAGRNTRPGKDELFDLEESHPQVVLVAANHRYVSVRQGVNVSANQDDELDHETFLMQIDQETKKCTFYSSTGGYWTLVTHGGIHATATQVSANTMFEMEWRGRRVALKASNGRYVCMKKNGQLAAISDFVGKDEEFTLKLINRPILVLRGLDGFVCHHRGSNQLDTNRSVYDVFHLSFSDGAYRIRGRDGGFWYTGSHGSVCSDGERAEDFVFEFRERGRLAIRARSGKYLRGGASGLLRADADAPAGTALWEY
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11527955}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
uniprot
proteins
mass_dalton
55057
uniprot
proteins
protein_family
Fascin family
uniprot
proteins
pubmed
10234509
uniprot
proteins
pubmed
10783262
uniprot
proteins
pubmed
10892848
uniprot
proteins
pubmed
11527955
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}.
uniprot
proteins