FSCN2_MOUSE
ID FSCN2_MOUSE Reviewed; 492 AA.
AC Q32M02; Q8BWU0;
DT 08-FEB-2011, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 1.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Fascin-2;
DE AltName: Full=Retinal fascin;
GN Name=Fscn2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Hippocampus;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 FUNCTION, SUBCELLULAR LOCATION, AND VARIANT PREBYCUSIS HIS-109.
RX PubMed=20660251; DOI=10.1523/jneurosci.1541-10.2010;
RA Shin J.B., Longo-Guess C.M., Gagnon L.H., Saylor K.W., Dumont R.A.,
RA Spinelli K.J., Pagana J.M., Wilmarth P.A., David L.L., Gillespie P.G.,
RA Johnson K.R.;
RT "The R109H variant of fascin-2, a developmentally regulated actin
RT crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of
RT DBA/2J mice.";
RL J. Neurosci. 30:9683-9694(2010).
RN [6]
RP TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=27811163; DOI=10.1083/jcb.201606036;
RA Krey J.F., Krystofiak E.S., Dumont R.A., Vijayakumar S., Choi D.,
RA Rivero F., Kachar B., Jones S.M., Barr-Gillespie P.G.;
RT "Plastin 1 widens stereocilia by transforming actin filament packing from
RT hexagonal to liquid.";
RL J. Cell Biol. 215:467-482(2016).
CC -!- FUNCTION: Acts as an actin bundling protein. May play a pivotal role in
CC photoreceptor cell-specific events, such as disk morphogenesis.
CC Important for maintaining functional hair-cell bundles in the inner
CC ear. May stiffen the longer stereocilia of hair-cell bundles in the
CC inner ear enabling better force transmission to tip links.
CC {ECO:0000269|PubMed:20660251}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:20660251}. Cell projection, stereocilium
CC {ECO:0000269|PubMed:20660251, ECO:0000269|PubMed:27811163}. Note=Found
CC mostly in longer hair-cell stereocilia and, in all stereocilia, present
CC in gradient with the highest concentration at stereocilia tips.
CC -!- TISSUE SPECIFICITY: Expressed in the inner ear. Abundant in the
CC utricle. {ECO:0000269|PubMed:27811163}.
CC -!- DEVELOPMENTAL STAGE: Developmentally regulated, appearing in inner-hair
CC cell stereocilia during final stages of elongation.
CC -!- DISEASE: Note=Defects in Fscn2 lead to hair-cell degeneration in the
CC inner ear and are a key contributor to the early-onset, age-related
CC hearing loss (prebycusis) phenotype when in combination with waltzer
CC cadherin 23 mutant. {ECO:0000269|PubMed:20660251}.
CC -!- SIMILARITY: Belongs to the fascin family. {ECO:0000305}.
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DR EMBL; AK050002; BAC34026.1; -; mRNA.
DR EMBL; AL669855; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466558; EDL34739.1; -; Genomic_DNA.
DR EMBL; BC109356; AAI09357.1; -; mRNA.
DR EMBL; BC109357; AAI09358.1; -; mRNA.
DR CCDS; CCDS25731.1; -.
DR RefSeq; NP_766390.2; NM_172802.4.
DR AlphaFoldDB; Q32M02; -.
DR SMR; Q32M02; -.
DR STRING; 10090.ENSMUSP00000026445; -.
DR PhosphoSitePlus; Q32M02; -.
DR PaxDb; Q32M02; -.
DR PRIDE; Q32M02; -.
DR ProteomicsDB; 266867; -.
DR Antibodypedia; 32856; 130 antibodies from 26 providers.
DR DNASU; 238021; -.
DR Ensembl; ENSMUST00000026445; ENSMUSP00000026445; ENSMUSG00000025380.
DR GeneID; 238021; -.
DR KEGG; mmu:238021; -.
DR UCSC; uc007msk.2; mouse.
DR CTD; 25794; -.
DR MGI; MGI:2443337; Fscn2.
DR VEuPathDB; HostDB:ENSMUSG00000025380; -.
DR eggNOG; ENOG502QPRX; Eukaryota.
DR GeneTree; ENSGT00950000183157; -.
DR HOGENOM; CLU_030960_2_0_1; -.
DR InParanoid; Q32M02; -.
DR OMA; IICGAEK; -.
DR OrthoDB; 1419861at2759; -.
DR PhylomeDB; Q32M02; -.
DR TreeFam; TF323992; -.
DR BioGRID-ORCS; 238021; 1 hit in 74 CRISPR screens.
DR PRO; PR:Q32M02; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q32M02; protein.
DR Bgee; ENSMUSG00000025380; Expressed in retinal neural layer and 45 other tissues.
DR Genevisible; Q32M02; MM.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0032420; C:stereocilium; IDA:UniProtKB.
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: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; IMP:MGI.
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 2: Evidence at transcript level;
KW Actin-binding; Cell projection; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..492
FT /note="Fascin-2"
FT /id="PRO_0000404202"
FT VARIANT 109
FT /note="R -> H (in prebycusis phenotype; when associated
FT with waltzer cadherin 23 mutant)"
FT /evidence="ECO:0000269|PubMed:20660251"
FT CONFLICT 395
FT /note="H -> P (in Ref. 1; BAC34026)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 492 AA; 55073 MW; 8B848783E8E778D5 CRC64;
MPTNGLHQVL KIQFGLVNDA DRYLTAESFG FKVNASAASL KRKQIWVLEP DPGQGTAVLF
RSSHLGRYLS AEEDGRVACE MDQPGRDCRF LVLPQPDGRW VLQSEPHGRF FGGIEDRLSC
FATAISPAEL WTVHLAIHPQ AHLLSVSRRR YVHLCLQEDE MAADGDMPWG VDALVTLIFQ
SRRYCLKSYD SRYLRSDGRL VWEPEAHACY TLEFKAGKLA FKDCDGRYLA PVGPAGTLKA
GRNTRPSKDE LFDLEQSHPQ VVLVAANRRY ISVRQGINVS ANQDEELGHE TFLMQIDQET
KKCTFYSSTG GYWTLVTHGG IQATATQVSA NTMFEIEWHG RRVALKASNG RFVCMKKNGQ
LAAISDFVGE DELFTLKLIN RPLLVLRGLD GFVCHRRGSN QLDTNRSTYD VFHLSFRDGA
YQIRGRGGGF WYTGSHGSVC SDGDLAEDFL FEFRERGRLA IRALSGKYLR GGASGLLRAD
ADLPVGEALW EY
