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O14926

- FSCN2_HUMAN

UniProt

O14926 - FSCN2_HUMAN

Protein

Fascin-2

Gene

FSCN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.

    GO - Molecular functioni

    1. actin binding Source: UniProtKB
    2. actin filament binding Source: UniProtKB

    GO - Biological processi

    1. actin cytoskeleton organization Source: UniProtKB
    2. actin filament bundle assembly Source: ProtInc
    3. anatomical structure morphogenesis Source: ProtInc
    4. eye photoreceptor cell development Source: Ensembl
    5. visual perception Source: ProtInc

    Keywords - Ligandi

    Actin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fascin-2
    Alternative name(s):
    Retinal fascin
    Gene namesi
    Name:FSCN2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:3960. FSCN2.

    Subcellular locationi

    Cytoplasmcytoskeleton By similarity. Cell projectionstereocilium By similarity

    GO - Cellular componenti

    1. actin cytoskeleton Source: UniProtKB
    2. cytoplasm Source: UniProtKB-KW
    3. stereocilium Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 30 (RP30) [MIM:607921]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Retinitis pigmentosa

    Organism-specific databases

    MIMi607921. phenotype.
    Orphaneti791. Retinitis pigmentosa.
    PharmGKBiPA28378.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 492492Fascin-2PRO_0000219382Add
    BLAST

    Proteomic databases

    PaxDbiO14926.
    PRIDEiO14926.

    PTM databases

    PhosphoSiteiO14926.

    Expressioni

    Tissue specificityi

    Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.

    Gene expression databases

    ArrayExpressiO14926.
    BgeeiO14926.
    CleanExiHS_FSCN2.
    GenevestigatoriO14926.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000334665.

    Structurei

    3D structure databases

    ProteinModelPortaliO14926.
    SMRiO14926. Positions 8-492.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the fascin family.Curated

    Phylogenomic databases

    eggNOGiNOG85029.
    HOGENOMiHOG000267034.
    HOVERGENiHBG000968.
    InParanoidiO14926.
    KOiK17455.
    OMAiLINHEGR.
    OrthoDBiEOG7VQJCP.
    PhylomeDBiO14926.
    TreeFamiTF323992.

    Family and domain databases

    InterProiIPR008999. Actin_cross-linking.
    IPR010431. Fascin.
    IPR022768. Fascin-domain.
    IPR024703. Fascin_metazoans.
    [Graphical view]
    PANTHERiPTHR10551. PTHR10551. 1 hit.
    PfamiPF06268. Fascin. 4 hits.
    [Graphical view]
    PIRSFiPIRSF005682. Fascin. 1 hit.
    SUPFAMiSSF50405. SSF50405. 4 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O14926-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPTNGLHQVL KIQFGLVNDT DRYLTAESFG FKVNASAPSL KRKQTWVLEP    50
    DPGQGTAVLL RSSHLGRYLS AEEDGRVACE AEQPGRDCRF LVLPQPDGRW 100
    VLRSEPHGRF FGGTEDQLSC FATAVSPAEL WTVHLAIHPQ AHLLSVSRRR 150
    YVHLCPREDE MAADGDKPWG VDALLTLIFR SRRYCLKSCD SRYLRSDGRL 200
    VWEPEPRACY TLEFKAGKLA FKDCDGHYLA PVGPAGTLKA GRNTRPGKDE 250
    LFDLEESHPQ VVLVAANHRY VSVRQGVNVS ANQDDELDHE TFLMQIDQET 300
    KKCTFYSSTG GYWTLVTHGG IHATATQVSA NTMFEMEWRG RRVALKASNG 350
    RYVCMKKNGQ LAAISDFVGK DEEFTLKLIN RPILVLRGLD GFVCHHRGSN 400
    QLDTNRSVYD VFHLSFSDGA YRIRGRDGGF WYTGSHGSVC SDGERAEDFV 450
    FEFRERGRLA IRARSGKYLR GGASGLLRAD ADAPAGTALW EY 492
    Length:492
    Mass (Da):55,057
    Last modified:January 1, 1998 - v1
    Checksum:i35C85530EF41145C
    GO
    Isoform 2 (identifier: O14926-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         368-368: V → VGPPPRPAWTGKVAGGAAQQTLSPP

    Note: No experimental confirmation available. Gene prediction based on EST data.

    Show »
    Length:516
    Mass (Da):57,381
    Checksum:iC367501F721ACBA6
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei368 – 3681V → VGPPPRPAWTGKVAGGAAQQ TLSPP in isoform 2. CuratedVSP_047285

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030165 mRNA. Translation: AAB86481.1.
    AF066065
    , AF066062, AF066063, AF066064 Genomic DNA. Translation: AAC18604.1.
    AC137896 Genomic DNA. No translation available.
    AC139149 Genomic DNA. No translation available.
    BC126295 mRNA. Translation: AAI26296.1.
    BC130330 mRNA. Translation: AAI30331.1.
    CCDSiCCDS45810.1. [O14926-2]
    CCDS45811.1. [O14926-1]
    RefSeqiNP_001070650.1. NM_001077182.2. [O14926-2]
    NP_036550.1. NM_012418.3. [O14926-1]
    XP_005257252.1. XM_005257195.2. [O14926-2]
    XP_005257253.1. XM_005257196.2. [O14926-1]
    UniGeneiHs.118555.

    Genome annotation databases

    EnsembliENST00000334850; ENSP00000334665; ENSG00000186765. [O14926-2]
    ENST00000417245; ENSP00000388716; ENSG00000186765. [O14926-1]
    GeneIDi25794.
    KEGGihsa:25794.
    UCSCiuc010wup.2. human. [O14926-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Mutations of the FSCN2 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030165 mRNA. Translation: AAB86481.1 .
    AF066065
    , AF066062 , AF066063 , AF066064 Genomic DNA. Translation: AAC18604.1 .
    AC137896 Genomic DNA. No translation available.
    AC139149 Genomic DNA. No translation available.
    BC126295 mRNA. Translation: AAI26296.1 .
    BC130330 mRNA. Translation: AAI30331.1 .
    CCDSi CCDS45810.1. [O14926-2 ]
    CCDS45811.1. [O14926-1 ]
    RefSeqi NP_001070650.1. NM_001077182.2. [O14926-2 ]
    NP_036550.1. NM_012418.3. [O14926-1 ]
    XP_005257252.1. XM_005257195.2. [O14926-2 ]
    XP_005257253.1. XM_005257196.2. [O14926-1 ]
    UniGenei Hs.118555.

    3D structure databases

    ProteinModelPortali O14926.
    SMRi O14926. Positions 8-492.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000334665.

    PTM databases

    PhosphoSitei O14926.

    Proteomic databases

    PaxDbi O14926.
    PRIDEi O14926.

    Protocols and materials databases

    DNASUi 25794.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334850 ; ENSP00000334665 ; ENSG00000186765 . [O14926-2 ]
    ENST00000417245 ; ENSP00000388716 ; ENSG00000186765 . [O14926-1 ]
    GeneIDi 25794.
    KEGGi hsa:25794.
    UCSCi uc010wup.2. human. [O14926-1 ]

    Organism-specific databases

    CTDi 25794.
    GeneCardsi GC17P079495.
    GeneReviewsi FSCN2.
    HGNCi HGNC:3960. FSCN2.
    MIMi 607643. gene.
    607921. phenotype.
    neXtProti NX_O14926.
    Orphaneti 791. Retinitis pigmentosa.
    PharmGKBi PA28378.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG85029.
    HOGENOMi HOG000267034.
    HOVERGENi HBG000968.
    InParanoidi O14926.
    KOi K17455.
    OMAi LINHEGR.
    OrthoDBi EOG7VQJCP.
    PhylomeDBi O14926.
    TreeFami TF323992.

    Miscellaneous databases

    GeneWikii FSCN2.
    GenomeRNAii 25794.
    NextBioi 46975.
    PROi O14926.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14926.
    Bgeei O14926.
    CleanExi HS_FSCN2.
    Genevestigatori O14926.

    Family and domain databases

    InterProi IPR008999. Actin_cross-linking.
    IPR010431. Fascin.
    IPR022768. Fascin-domain.
    IPR024703. Fascin_metazoans.
    [Graphical view ]
    PANTHERi PTHR10551. PTHR10551. 1 hit.
    Pfami PF06268. Fascin. 4 hits.
    [Graphical view ]
    PIRSFi PIRSF005682. Fascin. 1 hit.
    SUPFAMi SSF50405. SSF50405. 4 hits.
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain and Cerebellum.
    5. "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] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    6. "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] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RP30.

    Entry informationi

    Entry nameiFSCN2_HUMAN
    AccessioniPrimary (citable) accession number: O14926
    Secondary accession number(s): A0AVC4, A8MRA6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 119 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3