ID   FSCN2_HUMAN             Reviewed;         492 AA.
AC   O14926; A0AVC4;
DT   26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-JAN-1998, sequence version 1.
DT   09-FEB-2010, entry version 79.
DE   RecName: Full=Fascin-2;
DE   AltName: Full=Retinal fascin;
GN   Name=FSCN2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Retina;
RX   MEDLINE=99250768; PubMed=10234509; DOI=10.1038/sj.ejhg.5200302;
RA   Bardien-Kruger S., Greenberg J., Tubb B.E., Bryan J., Queimado L.,
RA   Lovett M., Ramesar R.S.;
RT   "Refinement of the RP17 locus for autosomal dominant retinitis
RT   pigmentosa, construction of a YAC contig and investigation of the
RT   candidate gene retinal fascin.";
RL   Eur. J. Hum. Genet. 7:332-338(1999).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   MEDLINE=20247254; PubMed=10783262; DOI=10.1006/geno.2000.6156;
RA   Tubb B.E., Bardien-Kruger S., Kashork C.D., Shaffer L.G.,
RA   Ramagli L.S., Xu J., Siciliano M.J., Bryan J.;
RT   "Characterization of human retinal fascin gene (FSCN2) at 17q25: close
RT   physical linkage of fascin and cytoplasmic actin genes.";
RL   Genomics 65:146-156(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain, and Cerebellum;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   CHARACTERIZATION.
RX   MEDLINE=20348937; PubMed=10892848;
RA   Saishin Y., Ishikawa R., Ugawa S., Guo W., Ueda T., Morimura H.,
RA   Kohama K., Shimizu H., Tano Y., Shimada S.;
RT   "Retinal fascin: functional nature, subcellular distribution, and
RT   chromosomal localization.";
RL   Invest. Ophthalmol. Vis. Sci. 41:2087-2095(2000).
RN   [5]
RP   INVOLVEMENT IN RETINITIS PIGMENTOSA.
RX   MEDLINE=21419337; PubMed=11527955;
RA   Wada Y., Abe T., Takeshita T., Sato H., Yanashima K., Tamai M.;
RT   "Mutation of human retinal fascin gene (FSCN2) causes autosomal
RT   dominant retinitis pigmentosa.";
RL   Invest. Ophthalmol. Vis. Sci. 42:2395-2400(2001).
CC   -!- FUNCTION: Acts as an actin bundling protein. May play a pivotal
CC       role in photoreceptor cell-specific events, such as disk
CC       morphogenesis.
CC   -!- TISSUE SPECIFICITY: Localized specifically in the outer and inner
CC       segments of the photoreceptor cells in the retina.
CC   -!- DISEASE: Defects in FSCN2 are the cause of retinitis pigmentosa
CC       type 30 (RP30) [MIM:607921]. RP leads to degeneration of retinal
CC       photoreceptor cells. Patients typically have night vision
CC       blindness and loss of midperipheral visual field. As their
CC       condition progresses, they lose their far peripheral visual field
CC       and eventually central vision as well. RP30 inheritance is
CC       autosomal dominant.
CC   -!- SIMILARITY: Belongs to the fascin family.
CC   -!- WEB RESOURCE: Name=Mutations of the FSCN2 gene; Note=Retina
CC       International's Scientific Newsletter;
CC       URL="http://www.retina-international.com/sci-news/fscn2mut.htm";
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DR   EMBL; AF030165; AAB86481.1; -; mRNA.
DR   EMBL; AF066065; AAC18604.1; -; Genomic_DNA.
DR   EMBL; AF066062; AAC18604.1; JOINED; Genomic_DNA.
DR   EMBL; AF066063; AAC18604.1; JOINED; Genomic_DNA.
DR   EMBL; AF066064; AAC18604.1; JOINED; Genomic_DNA.
DR   EMBL; BC126295; AAI26296.1; -; mRNA.
DR   EMBL; BC130330; AAI30331.1; -; mRNA.
DR   IPI; IPI00018293; -.
DR   RefSeq; NP_036550.1; -.
DR   UniGene; Hs.118555; -.
DR   SMR; O14926; 8-492.
DR   STRING; O14926; -.
DR   PRIDE; O14926; -.
DR   Ensembl; ENST00000417245; ENSP00000388716; ENSG00000186765; Homo sapiens.
DR   GeneID; 25794; -.
DR   KEGG; hsa:25794; -.
DR   CTD; 25794; -.
DR   GeneCards; GC17P077110; -.
DR   H-InvDB; HIX0039041; -.
DR   HGNC; HGNC:3960; FSCN2.
DR   MIM; 607643; gene.
DR   MIM; 607921; phenotype.
DR   Orphanet; 791; Retinitis pigmentosa.
DR   PharmGKB; PA28378; -.
DR   eggNOG; prNOG12594; -.
DR   HOVERGEN; O14926; -.
DR   InParanoid; O14926; -.
DR   NextBio; 46975; -.
DR   ArrayExpress; O14926; -.
DR   Bgee; O14926; -.
DR   CleanEx; HS_FSCN2; -.
DR   Genevestigator; O14926; -.
DR   GermOnline; ENSG00000186765; Homo sapiens.
DR   GO; GO:0015629; C:actin cytoskeleton; TAS:ProtInc.
DR   GO; GO:0051015; F:actin filament binding; IEA:InterPro.
DR   GO; GO:0030674; F:protein binding, bridging; IEA:InterPro.
DR   GO; GO:0051017; P:actin filament bundle assembly; TAS:ProtInc.
DR   GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR   GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR   GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR   InterPro; IPR008999; Actin_cross-linking.
DR   InterPro; IPR010431; Fascin.
DR   PANTHER; PTHR10551; Fascin; 1.
PE   1: Evidence at protein level;
KW   Actin-binding; Complete proteome; Retinitis pigmentosa;
KW   Sensory transduction; Vision.
FT   CHAIN         1    492       Fascin-2.
FT                                /FTId=PRO_0000219382.
SQ   SEQUENCE   492 AA;  55057 MW;  35C85530EF41145C CRC64;
     MPTNGLHQVL KIQFGLVNDT DRYLTAESFG FKVNASAPSL KRKQTWVLEP DPGQGTAVLL
     RSSHLGRYLS AEEDGRVACE AEQPGRDCRF LVLPQPDGRW VLRSEPHGRF FGGTEDQLSC
     FATAVSPAEL WTVHLAIHPQ AHLLSVSRRR YVHLCPREDE MAADGDKPWG VDALLTLIFR
     SRRYCLKSCD SRYLRSDGRL VWEPEPRACY TLEFKAGKLA FKDCDGHYLA PVGPAGTLKA
     GRNTRPGKDE LFDLEESHPQ VVLVAANHRY VSVRQGVNVS ANQDDELDHE TFLMQIDQET
     KKCTFYSSTG GYWTLVTHGG IHATATQVSA NTMFEMEWRG RRVALKASNG RYVCMKKNGQ
     LAAISDFVGK DEEFTLKLIN RPILVLRGLD GFVCHHRGSN QLDTNRSVYD VFHLSFSDGA
     YRIRGRDGGF WYTGSHGSVC SDGERAEDFV FEFRERGRLA IRARSGKYLR GGASGLLRAD
     ADAPAGTALW EY
//