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UniProtKB/Swiss-Prot entry O14926


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name FSCN2_HUMAN
Primary accession number O14926
Secondary accession number A0AVC4
Integrated into Swiss-Prot on September 26, 2001
Sequence was last modified on January 1, 1998 (Sequence version 1)
Annotations were last modified on    March 3, 2009 (Entry version 71)
Name and origin of the protein
Protein name Fascin-2
Synonym Retinal fascin
Gene name
Name: FSCN2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Retina;
DOI=10.1038/sj.ejhg.5200302; PubMed=10234509 [NCBI, ExPASy, EBI, Israel, Japan]
Bardien-Kruger S., Greenberg J., Tubb B.E., Bryan J., Queimado L., Lovett M., Ramesar R.S.;
"Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.";
Eur. J. Hum. Genet. 7:332-338(1999).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/geno.2000.6156; PubMed=10783262 [NCBI, ExPASy, EBI, Israel, Japan]
Tubb B.E., Bardien-Kruger S., Kashork C.D., Shaffer L.G., Ramagli L.S., Xu J., Siciliano M.J., Bryan J.;
"Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes.";
Genomics 65:146-156(2000).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, and Cerebellum;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
CHARACTERIZATION.
PubMed=10892848 [NCBI, ExPASy, EBI, Israel, Japan]
Saishin Y., Ishikawa R., Ugawa S., Guo W., Ueda T., Morimura H., Kohama K., Shimizu H., Tano Y., Shimada S.;
"Retinal fascin: functional nature, subcellular distribution, and chromosomal localization.";
Invest. Ophthalmol. Vis. Sci. 41:2087-2095(2000).
[5]
INVOLVEMENT IN RETINITIS PIGMENTOSA.
PubMed=11527955 [NCBI, ExPASy, EBI, Israel, Japan]
Wada Y., Abe T., Takeshita T., Sato H., Yanashima K., Tamai M.;
"Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.";
Invest. Ophthalmol. Vis. Sci. 42:2395-2400(2001).
Comments
  • FUNCTION: Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
  • TISSUE SPECIFICITY: Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.
  • DISEASE: Defects in FSCN2 are the cause of retinitis pigmentosa type 30 (RP30) [MIM:607921]. RP leads to degeneration of retinal photoreceptor cells. 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. RP30 inheritance is autosomal dominant.
  • SIMILARITY: Belongs to the fascin family.
  • WEB RESOURCE: Name=Mutations of the FSCN2 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.com/sci-news/fscn2mut.htm";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF030165; AAB86481.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF066065; AAC18604.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF066062; AAC18604.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF066063; AAC18604.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF066064; AAC18604.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC126295; AAI26296.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC130330; AAI30331.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00018293; -.
RefSeq NP_001070650.1; -.
NP_036550.1; -.
UniGene Hs.118555
3D structure databases
HSSP Q16658; 1DFC. [HSSP ENTRY / PDB]
ModBase O14926.
Organism-specific databases
GeneCards GC17P077110; -.
H-InvDB HIX0039041; -.
HGNC HGNC:3960; FSCN2.
GenAtlas FSCN2.
MIM 607643; gene. [NCBI / EBI]
607921; phenotype. [NCBI / EBI]
Orphanet 791; Retinitis pigmentosa.
PharmGKB PA28378; -.
Gene expression databases
Bgee O14926; -.
CleanEx HS_FSCN2; -.
GermOnline ENSG00000186765; Homo sapiens.
Ontologies
GO
GO:0015629; Cellular component: actin cytoskeleton (traceable author statement from ProtInc).
GO:0051015; Molecular function: actin filament binding (inferred from electronic annotation from InterPro).
GO:0030674; Molecular function: protein binding, bridging (inferred from electronic annotation from InterPro).
GO:0051017; Biological process: actin filament bundle formation (traceable author statement from ProtInc).
GO:0050896; Biological process: response to stimulus (inferred from electronic annotation from UniProtKB-KW).
GO:0007601; Biological process: visual perception (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR010431; Fascin.
Graphical view of domain structure.
PANTHER PTHR10551; Fascin; 1.
Pfam PF06268; Fascin; 4.
Pfam graphical view of domain structure.
Proteomic databases
PRIDE O14926; -.
Genome annotation databases
Ensembl ENSG00000186765; Homo sapiens. [Contig view]
GeneID 25794; -.
KEGG hsa:25794; -.
Phylogenomic databases
HOGENOM O14926; -.
HOVERGEN O14926; -.
Other
NextBio 46975; -.
SOURCE FSCN2; Homo sapiens.
ProtoNet O14926.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Actin-binding; Retinitis pigmentosa; Sensory transduction; Vision.
Features
SEVIEWER logo Feature table viewer
KeyFrom To Length Description FTId
CHAIN   1   492  492     Fascin-2. PRO_0000219382
Sequence information
Length: 492 AA [This is the length of the unprocessed precursor] Molecular weight: 55057 Da [This is the MW of the unprocessed precursor] CRC64: 35C85530EF41145C [This is a checksum on the sequence]
        10         20         30         40         50         60 
MPTNGLHQVL KIQFGLVNDT DRYLTAESFG FKVNASAPSL KRKQTWVLEP DPGQGTAVLL 

        70         80         90        100        110        120 
RSSHLGRYLS AEEDGRVACE AEQPGRDCRF LVLPQPDGRW VLRSEPHGRF FGGTEDQLSC 

       130        140        150        160        170        180 
FATAVSPAEL WTVHLAIHPQ AHLLSVSRRR YVHLCPREDE MAADGDKPWG VDALLTLIFR 

       190        200        210        220        230        240 
SRRYCLKSCD SRYLRSDGRL VWEPEPRACY TLEFKAGKLA FKDCDGHYLA PVGPAGTLKA 

       250        260        270        280        290        300 
GRNTRPGKDE LFDLEESHPQ VVLVAANHRY VSVRQGVNVS ANQDDELDHE TFLMQIDQET 

       310        320        330        340        350        360 
KKCTFYSSTG GYWTLVTHGG IHATATQVSA NTMFEMEWRG RRVALKASNG RYVCMKKNGQ 

       370        380        390        400        410        420 
LAAISDFVGK DEEFTLKLIN RPILVLRGLD GFVCHHRGSN QLDTNRSVYD VFHLSFSDGA 

       430        440        450        460        470        480 
YRIRGRDGGF WYTGSHGSVC SDGERAEDFV FEFRERGRLA IRARSGKYLR GGASGLLRAD 

       490 
ADAPAGTALW EY 

O14926 in FASTA format

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