O14926 (FSCN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fascin-2

Alternative name(s):
Retinal fascin

Gene names

Name:

FSCN2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	492 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
Subcellular location	Cytoplasm › cytoskeleton By similarity. Cell projection › stereocilium By similarity.
Tissue specificity	Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.
Involvement in 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.
Sequence similarities	Belongs to the fascin family.

Ontologies

Keywords
Cellular component	Cell projection Cytoplasm Cytoskeleton
Disease	Retinitis pigmentosa
Ligand	Actin-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	actin filament bundle assembly Traceable author statement. Source: ProtInc anatomical structure morphogenesis Traceable author statement. Source: ProtInc visual perception Traceable author statement. Source: ProtInc
Cellular component	actin cytoskeleton Inferred from sequence or structural similarity. Source: UniProtKB cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW stereocilium Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	actin filament binding Inferred from sequence or structural similarity. Source: UniProtKB protein binding, bridging Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 492	492	Fascin-2		PRO_0000219382

Sequences

	Sequence		Length	Mass (Da)
	O14926 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 35C85530EF41145C	FASTA	492	55,057
	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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin." Bardien-Kruger S., Greenberg J., Tubb B.E., Bryan J., Queimado L., Lovett M., Ramesar R.S. Eur. J. Hum. Genet. 7:332-338(1999) [PubMed: 10234509] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[2]	"Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes." Tubb B.E., Bardien-Kruger S., Kashork C.D., Shaffer L.G., Ramagli L.S., Xu J., Siciliano M.J., Bryan J. Genomics 65:146-156(2000) [PubMed: 10783262] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain and Cerebellum.
[4]	"Retinal fascin: functional nature, subcellular distribution, and chromosomal localization." Saishin Y., Ishikawa R., Ugawa S., Guo W., Ueda T., Morimura H., Kohama K., Shimizu H., Tano Y., Shimada S. Invest. Ophthalmol. Vis. Sci. 41:2087-2095(2000) [PubMed: 10892848] [Abstract] Cited for: CHARACTERIZATION.
[5]	"Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa." Wada Y., Abe T., Takeshita T., Sato H., Yanashima K., Tamai M. Invest. Ophthalmol. Vis. Sci. 42:2395-2400(2001) [PubMed: 11527955] [Abstract] Cited for: INVOLVEMENT IN RETINITIS PIGMENTOSA.
+	Additional computationally mapped references.

Web resources

Mutations of the FSCN2 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF030165 mRNA. Translation: AAB86481.1. AF066065 , AF066062, AF066063, AF066064 Genomic DNA. Translation: AAC18604.1. BC126295 mRNA. Translation: AAI26296.1. BC130330 mRNA. Translation: AAI30331.1.
IPI	IPI00018293.
RefSeq	NP_001070650.1. NM_001077182.2. NP_036550.1. NM_012418.3.
UniGene	Hs.118555.
3D structure databases
ProteinModelPortal	O14926.
SMR	O14926. Positions 8-492.
ModBase	Search...
Protein-protein interaction databases
STRING	O14926.
Proteomic databases
PRIDE	O14926.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000417245; ENSP00000388716; ENSG00000186765.
GeneID	25794.
KEGG	hsa:25794.
Organism-specific databases
CTD	25794.
GeneCards	GC17P079495.
H-InvDB	HIX0039041.
HGNC	HGNC:3960. FSCN2.
MIM	607643. gene. 607921. phenotype.
neXtProt	NX_O14926.
Orphanet	791. Retinitis pigmentosa.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12594.
GeneTree	ENSGT00530000063373.
HOVERGEN	HBG000968.
InParanoid	O14926.
Gene expression databases
ArrayExpress	O14926.
Bgee	O14926.
CleanEx	HS_FSCN2.
Genevestigator	O14926.
GermOnline	ENSG00000186765. Homo sapiens.
Family and domain databases
InterPro	IPR008999. Actin_cross-linking. IPR024703. Fascin. IPR022768. Fascin-domain. [Graphical view]
Pfam	PF06268. Fascin. 4 hits. [Graphical view]
PIRSF	PIRSF005682. Fascin. 1 hit.
SUPFAM	SSF50405. Actin_crosslink. 4 hits.
ProtoNet	Search...
Other
NextBio	46975.
SOURCE	Search...

Entry information

Entry name

FSCN2_HUMAN

Accession

Primary (citable) accession number: O14926
Secondary accession number(s): A0AVC4

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	January 1, 1998
Last modified:	January 25, 2012
This is version 95 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.