FSCN2_HUMAN
ID FSCN2_HUMAN Reviewed; 492 AA.
AC O14926; A0AVC4; A8MRA6;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Fascin-2;
DE AltName: Full=Retinal fascin;
GN Name=FSCN2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Retina;
RX 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 pigmentosa,
RT construction of a YAC contig and investigation of the candidate gene
RT retinal fascin.";
RL Eur. J. Hum. Genet. 7:332-338(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10783262; DOI=10.1006/geno.2000.6156;
RA Tubb B.E., Bardien-Kruger S., Kashork C.D., Shaffer L.G., Ramagli L.S.,
RA 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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP CHARACTERIZATION.
RX PubMed=10892848;
RA Saishin Y., Ishikawa R., Ugawa S., Guo W., Ueda T., Morimura H., Kohama K.,
RA 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 [6]
RP INVOLVEMENT IN RP30.
RX 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 dominant
RT retinitis pigmentosa.";
RL Invest. Ophthalmol. Vis. Sci. 42:2395-2400(2001).
CC -!- FUNCTION: Acts as an actin bundling protein. May play a pivotal role in
CC photoreceptor cell-specific events, such as disk morphogenesis.
CC -!- INTERACTION:
CC O14926; Q92993: KAT5; NbExp=3; IntAct=EBI-21017948, EBI-399080;
CC O14926; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-21017948, EBI-11742507;
CC O14926; P17252: PRKCA; NbExp=3; IntAct=EBI-21017948, EBI-1383528;
CC O14926; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-21017948, EBI-9090795;
CC O14926; P61981: YWHAG; NbExp=3; IntAct=EBI-21017948, EBI-359832;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell
CC projection, stereocilium {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O14926-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O14926-2; Sequence=VSP_047285;
CC -!- TISSUE SPECIFICITY: Localized specifically in the outer and inner
CC segments of the photoreceptor cells in the retina.
CC -!- DISEASE: Retinitis pigmentosa 30 (RP30) [MIM:607921]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:11527955}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the fascin family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Mutations of the FSCN2 gene; Note=Retina
CC International's Scientific Newsletter;
CC URL="https://www.retina-international.org/files/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; AC137896; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC139149; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC126295; AAI26296.1; -; mRNA.
DR EMBL; BC130330; AAI30331.1; -; mRNA.
DR CCDS; CCDS45810.1; -. [O14926-2]
DR CCDS; CCDS45811.1; -. [O14926-1]
DR RefSeq; NP_001070650.1; NM_001077182.2. [O14926-2]
DR RefSeq; NP_036550.1; NM_012418.3. [O14926-1]
DR RefSeq; XP_011522889.1; XM_011524587.2. [O14926-2]
DR RefSeq; XP_011522892.1; XM_011524590.2. [O14926-2]
DR AlphaFoldDB; O14926; -.
DR SMR; O14926; -.
DR BioGRID; 117327; 7.
DR IntAct; O14926; 9.
DR STRING; 9606.ENSP00000334665; -.
DR iPTMnet; O14926; -.
DR PhosphoSitePlus; O14926; -.
DR BioMuta; FSCN2; -.
DR MassIVE; O14926; -.
DR PaxDb; O14926; -.
DR PeptideAtlas; O14926; -.
DR PRIDE; O14926; -.
DR ProteomicsDB; 1955; -.
DR ProteomicsDB; 48307; -. [O14926-1]
DR Antibodypedia; 32856; 130 antibodies from 26 providers.
DR DNASU; 25794; -.
DR Ensembl; ENST00000334850.7; ENSP00000334665.7; ENSG00000186765.12. [O14926-2]
DR Ensembl; ENST00000417245.7; ENSP00000388716.2; ENSG00000186765.12. [O14926-1]
DR GeneID; 25794; -.
DR KEGG; hsa:25794; -.
DR MANE-Select; ENST00000417245.7; ENSP00000388716.2; NM_012418.4; NP_036550.1.
DR UCSC; uc010wuo.3; human. [O14926-1]
DR CTD; 25794; -.
DR DisGeNET; 25794; -.
DR GeneCards; FSCN2; -.
DR GeneReviews; FSCN2; -.
DR HGNC; HGNC:3960; FSCN2.
DR HPA; ENSG00000186765; Tissue enhanced (pancreas, retina, thyroid gland).
DR MalaCards; FSCN2; -.
DR MIM; 607643; gene.
DR MIM; 607921; phenotype.
DR neXtProt; NX_O14926; -.
DR OpenTargets; ENSG00000186765; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA28378; -.
DR VEuPathDB; HostDB:ENSG00000186765; -.
DR eggNOG; ENOG502QPRX; Eukaryota.
DR GeneTree; ENSGT00950000183157; -.
DR HOGENOM; CLU_030960_2_0_1; -.
DR InParanoid; O14926; -.
DR OMA; IICGAEK; -.
DR OrthoDB; 1419861at2759; -.
DR PhylomeDB; O14926; -.
DR TreeFam; TF323992; -.
DR PathwayCommons; O14926; -.
DR Reactome; R-HSA-9662360; Sensory processing of sound by inner hair cells of the cochlea.
DR Reactome; R-HSA-9662361; Sensory processing of sound by outer hair cells of the cochlea.
DR SignaLink; O14926; -.
DR BioGRID-ORCS; 25794; 11 hits in 1062 CRISPR screens.
DR ChiTaRS; FSCN2; human.
DR GeneWiki; FSCN2; -.
DR GenomeRNAi; 25794; -.
DR Pharos; O14926; Tbio.
DR PRO; PR:O14926; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O14926; protein.
DR Bgee; ENSG00000186765; Expressed in middle frontal gyrus and 91 other tissues.
DR Genevisible; O14926; HS.
DR GO; GO:0015629; C:actin cytoskeleton; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0032420; C:stereocilium; IEA:UniProtKB-SubCell.
DR GO; GO:0003779; F:actin binding; ISS:UniProtKB.
DR GO; GO:0051015; F:actin filament binding; ISS:UniProtKB.
DR GO; GO:0030674; F:protein-macromolecule adaptor activity; IEA:InterPro.
DR GO; GO:0030036; P:actin cytoskeleton organization; ISS:UniProtKB.
DR GO; GO:0051017; P:actin filament bundle assembly; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0016477; P:cell migration; IBA:GO_Central.
DR GO; GO:0007163; P:establishment or maintenance of cell polarity; IBA:GO_Central.
DR GO; GO:0042462; P:eye photoreceptor cell development; IEA:Ensembl.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR CDD; cd00257; Fascin; 4.
DR InterPro; IPR008999; Actin-crosslinking.
DR InterPro; IPR010431; Fascin.
DR InterPro; IPR022768; Fascin-domain.
DR InterPro; IPR024703; Fascin_metazoans.
DR InterPro; IPR030144; FSCN2.
DR PANTHER; PTHR10551; PTHR10551; 1.
DR PANTHER; PTHR10551:SF24; PTHR10551:SF24; 1.
DR Pfam; PF06268; Fascin; 4.
DR PIRSF; PIRSF005682; Fascin; 1.
DR SUPFAM; SSF50405; SSF50405; 4.
PE 1: Evidence at protein level;
KW Actin-binding; Alternative splicing; Cell projection; Cytoplasm;
KW Cytoskeleton; Reference proteome; Retinitis pigmentosa.
FT CHAIN 1..492
FT /note="Fascin-2"
FT /id="PRO_0000219382"
FT VAR_SEQ 368
FT /note="V -> VGPPPRPAWTGKVAGGAAQQTLSPP (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_047285"
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
