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O14926 (FSCN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fascin-2
Alternative name(s):
Retinal fascin
Gene names
Name:FSCN2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length492 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cytoplasmcytoskeleton By similarity. Cell projectionstereocilium By similarity.

Tissue specificity

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

Involvement in disease

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

Sequence similarities

Belongs to the fascin family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O14926-1)

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.
Isoform 2 (identifier: O14926-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 492492Fascin-2
PRO_0000219382

Natural variations

Alternative sequence3681V → VGPPPRPAWTGKVAGGAAQQ TLSPP in isoform 2.
VSP_047285

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 35C85530EF41145C

FASTA49255,057
        10         20         30         40         50         60 
MPTNGLHQVL KIQFGLVNDT DRYLTAESFG FKVNASAPSL KRKQTWVLEP DPGQGTAVLL 

        70         80         90        100        110        120 
RSSHLGRYLS AEEDGRVACE AEQPGRDCRF LVLPQPDGRW VLRSEPHGRF FGGTEDQLSC 

       130        140        150        160        170        180 
FATAVSPAEL WTVHLAIHPQ AHLLSVSRRR YVHLCPREDE MAADGDKPWG VDALLTLIFR 

       190        200        210        220        230        240 
SRRYCLKSCD SRYLRSDGRL VWEPEPRACY TLEFKAGKLA FKDCDGHYLA PVGPAGTLKA 

       250        260        270        280        290        300 
GRNTRPGKDE LFDLEESHPQ VVLVAANHRY VSVRQGVNVS ANQDDELDHE TFLMQIDQET 

       310        320        330        340        350        360 
KKCTFYSSTG GYWTLVTHGG IHATATQVSA NTMFEMEWRG RRVALKASNG RYVCMKKNGQ 

       370        380        390        400        410        420 
LAAISDFVGK DEEFTLKLIN RPILVLRGLD GFVCHHRGSN QLDTNRSVYD VFHLSFSDGA 

       430        440        450        460        470        480 
YRIRGRDGGF WYTGSHGSVC SDGERAEDFV FEFRERGRLA IRARSGKYLR GGASGLLRAD 

       490 
ADAPAGTALW EY 

« Hide

Isoform 2 [UniParc].

Checksum: C367501F721ACBA6
Show »

FASTA51657,381

References

« Hide 'large scale' references
[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. expand/collapse author list , 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 RETINITIS PIGMENTOSA.
+Additional computationally mapped references.

Web resources

Mutations of the FSCN2 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF030165 mRNA. Translation: AAB86481.1.
AF066065 expand/collapse EMBL AC list , 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.
RefSeqNP_001070650.1. NM_001077182.2.
NP_036550.1. NM_012418.3.
XP_005257252.1. XM_005257195.2.
XP_005257253.1. XM_005257196.2.
UniGeneHs.118555.

3D structure databases

ProteinModelPortalO14926.
SMRO14926. Positions 8-492.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000334665.

PTM databases

PhosphoSiteO14926.

Proteomic databases

PaxDbO14926.
PRIDEO14926.

Protocols and materials databases

DNASU25794.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334850; ENSP00000334665; ENSG00000186765. [O14926-2]
ENST00000417245; ENSP00000388716; ENSG00000186765. [O14926-1]
ENST00000581300; ENSP00000462901; ENSG00000266662. [O14926-2]
ENST00000584893; ENSP00000461958; ENSG00000266662. [O14926-1]
GeneID25794.
KEGGhsa:25794.
UCSCuc010wup.2. human. [O14926-1]

Organism-specific databases

CTD25794.
GeneCardsGC17P079495.
HGNCHGNC:3960. FSCN2.
MIM607643. gene.
607921. phenotype.
neXtProtNX_O14926.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA28378.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85029.
HOGENOMHOG000267034.
HOVERGENHBG000968.
InParanoidO14926.
KOK17455.
OMALINHEGR.
OrthoDBEOG7VQJCP.
PhylomeDBO14926.
TreeFamTF323992.

Gene expression databases

ArrayExpressO14926.
BgeeO14926.
CleanExHS_FSCN2.
GenevestigatorO14926.

Family and domain databases

InterProIPR008999. Actin_cross-linking.
IPR010431. Fascin.
IPR022768. Fascin-domain.
IPR024703. Fascin_metazoans.
[Graphical view]
PANTHERPTHR10551. PTHR10551. 1 hit.
PfamPF06268. Fascin. 4 hits.
[Graphical view]
PIRSFPIRSF005682. Fascin. 1 hit.
SUPFAMSSF50405. SSF50405. 4 hits.
ProtoNetSearch...

Other

GeneWikiFSCN2.
GenomeRNAi25794.
NextBio46975.
PROO14926.
SOURCESearch...

Entry information

Entry nameFSCN2_HUMAN
AccessionPrimary (citable) accession number: O14926
Secondary accession number(s): A0AVC4, A8MRA6
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM