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Protein

Fascin-2

Gene

FSCN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

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
Complete GO annotation...

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 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:3960. FSCN2.

Subcellular locationi

  1. Cytoplasmcytoskeleton By similarity
  2. Cell projectionstereocilium By similarity

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 30 (RP30)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:607921

Keywords - Diseasei

Retinitis pigmentosa

Organism-specific databases

MIMi607921. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA28378.

Polymorphism and mutation databases

BioMutaiFSCN2.

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

BgeeiO14926.
CleanExiHS_FSCN2.
GenevestigatoriO14926.

Interactioni

Protein-protein interaction databases

BioGridi117327. 2 interactions.
STRINGi9606.ENSP00000334665.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Belongs to the fascin family.Curated

Phylogenomic databases

eggNOGiNOG85029.
GeneTreeiENSGT00530000063373.
HOGENOMiHOG000267034.
HOVERGENiHBG000968.
InParanoidiO14926.
KOiK17455.
OMAiLINHEGR.
OrthoDBiEOG7VQJCP.
PhylomeDBiO14926.
TreeFamiTF323992.

Family and domain databases

InterProiIPR008999. Actin_cross-linking.
IPR010431. Fascin.
IPR022768. Fascin-domain.
IPR024703. Fascin_metazoans.
IPR030144. FSCN2.
[Graphical view]
PANTHERiPTHR10551. PTHR10551. 1 hit.
PTHR10551:SF4. PTHR10551:SF4. 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. AlignAdd to basket

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

        10         20         30         40         50
MPTNGLHQVL KIQFGLVNDT DRYLTAESFG FKVNASAPSL KRKQTWVLEP
60 70 80 90 100
DPGQGTAVLL RSSHLGRYLS AEEDGRVACE AEQPGRDCRF LVLPQPDGRW
110 120 130 140 150
VLRSEPHGRF FGGTEDQLSC FATAVSPAEL WTVHLAIHPQ AHLLSVSRRR
160 170 180 190 200
YVHLCPREDE MAADGDKPWG VDALLTLIFR SRRYCLKSCD SRYLRSDGRL
210 220 230 240 250
VWEPEPRACY TLEFKAGKLA FKDCDGHYLA PVGPAGTLKA GRNTRPGKDE
260 270 280 290 300
LFDLEESHPQ VVLVAANHRY VSVRQGVNVS ANQDDELDHE TFLMQIDQET
310 320 330 340 350
KKCTFYSSTG GYWTLVTHGG IHATATQVSA NTMFEMEWRG RRVALKASNG
360 370 380 390 400
RYVCMKKNGQ LAAISDFVGK DEEFTLKLIN RPILVLRGLD GFVCHHRGSN
410 420 430 440 450
QLDTNRSVYD VFHLSFSDGA YRIRGRDGGF WYTGSHGSVC SDGERAEDFV
460 470 480 490
FEFRERGRLA IRARSGKYLR GGASGLLRAD ADAPAGTALW EY
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:
EMBLi
GenBanki
DDBJi
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_005257195.3. [O14926-2]
UniGeneiHs.118555.

Genome annotation databases

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

Polymorphism and mutation databases

BioMutaiFSCN2.

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:
EMBLi
GenBanki
DDBJi
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_005257195.3. [O14926-2]
UniGeneiHs.118555.

3D structure databases

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

Protein-protein interaction databases

BioGridi117327. 2 interactions.
STRINGi9606.ENSP00000334665.

PTM databases

PhosphoSiteiO14926.

Polymorphism and mutation databases

BioMutaiFSCN2.

Proteomic databases

PaxDbiO14926.
PRIDEiO14926.

Protocols and materials databases

DNASUi25794.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi25794.
GeneCardsiGC17P079495.
GeneReviewsiFSCN2.
HGNCiHGNC:3960. FSCN2.
MIMi607643. gene.
607921. phenotype.
neXtProtiNX_O14926.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA28378.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG85029.
GeneTreeiENSGT00530000063373.
HOGENOMiHOG000267034.
HOVERGENiHBG000968.
InParanoidiO14926.
KOiK17455.
OMAiLINHEGR.
OrthoDBiEOG7VQJCP.
PhylomeDBiO14926.
TreeFamiTF323992.

Miscellaneous databases

GeneWikiiFSCN2.
GenomeRNAii25794.
NextBioi46975.
PROiO14926.
SOURCEiSearch...

Gene expression databases

BgeeiO14926.
CleanExiHS_FSCN2.
GenevestigatoriO14926.

Family and domain databases

InterProiIPR008999. Actin_cross-linking.
IPR010431. Fascin.
IPR022768. Fascin-domain.
IPR024703. Fascin_metazoans.
IPR030144. FSCN2.
[Graphical view]
PANTHERiPTHR10551. PTHR10551. 1 hit.
PTHR10551:SF4. PTHR10551:SF4. 1 hit.
PfamiPF06268. Fascin. 4 hits.
[Graphical view]
PIRSFiPIRSF005682. Fascin. 1 hit.
SUPFAMiSSF50405. SSF50405. 4 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: April 29, 2015
This is version 123 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.