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Protein

Fascin-2

Gene

FSCN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

GO - Biological processi

  • actin cytoskeleton organization Source: UniProtKB
  • actin filament bundle assembly Source: ProtInc
  • anatomical structure morphogenesis Source: ProtInc
  • cell migration Source: GO_Central
  • establishment or maintenance of cell polarity Source: GO_Central
  • eye photoreceptor cell development Source: Ensembl
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:G66-33664-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:3960. FSCN2.

Subcellular locationi

GO - Cellular componenti

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

DisGeNETi25794.
MalaCardsiFSCN2.
MIMi607921. phenotype.
OpenTargetsiENSG00000186765.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA28378.

Polymorphism and mutation databases

BioMutaiFSCN2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002193821 – 492Fascin-2Add BLAST492

Proteomic databases

PaxDbiO14926.
PeptideAtlasiO14926.
PRIDEiO14926.

PTM databases

iPTMnetiO14926.
PhosphoSitePlusiO14926.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000186765.
CleanExiHS_FSCN2.
GenevisibleiO14926. HS.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117327. 3 interactors.
STRINGi9606.ENSP00000334665.

Structurei

3D structure databases

ProteinModelPortaliO14926.
SMRiO14926.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the fascin family.Curated

Phylogenomic databases

eggNOGiENOG410IF4E. Eukaryota.
ENOG410XPHV. LUCA.
GeneTreeiENSGT00530000063373.
HOGENOMiHOG000267034.
HOVERGENiHBG000968.
InParanoidiO14926.
KOiK17455.
OMAiDTNRSVY.
OrthoDBiEOG091G0C6S.
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)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047285368V → VGPPPRPAWTGKVAGGAAQQ TLSPP in isoform 2. Curated1

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_011522889.1. XM_011524587.2. [O14926-2]
XP_011522892.1. XM_011524590.2. [O14926-2]
UniGeneiHs.118555.

Genome annotation databases

EnsembliENST00000334850; ENSP00000334665; ENSG00000186765. [O14926-2]
ENST00000417245; ENSP00000388716; ENSG00000186765. [O14926-1]
GeneIDi25794.
KEGGihsa:25794.
UCSCiuc010wuo.3. 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:
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_011522889.1. XM_011524587.2. [O14926-2]
XP_011522892.1. XM_011524590.2. [O14926-2]
UniGeneiHs.118555.

3D structure databases

ProteinModelPortaliO14926.
SMRiO14926.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117327. 3 interactors.
STRINGi9606.ENSP00000334665.

PTM databases

iPTMnetiO14926.
PhosphoSitePlusiO14926.

Polymorphism and mutation databases

BioMutaiFSCN2.

Proteomic databases

PaxDbiO14926.
PeptideAtlasiO14926.
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.
UCSCiuc010wuo.3. human. [O14926-1]

Organism-specific databases

CTDi25794.
DisGeNETi25794.
GeneCardsiFSCN2.
GeneReviewsiFSCN2.
HGNCiHGNC:3960. FSCN2.
MalaCardsiFSCN2.
MIMi607643. gene.
607921. phenotype.
neXtProtiNX_O14926.
OpenTargetsiENSG00000186765.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA28378.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF4E. Eukaryota.
ENOG410XPHV. LUCA.
GeneTreeiENSGT00530000063373.
HOGENOMiHOG000267034.
HOVERGENiHBG000968.
InParanoidiO14926.
KOiK17455.
OMAiDTNRSVY.
OrthoDBiEOG091G0C6S.
PhylomeDBiO14926.
TreeFamiTF323992.

Enzyme and pathway databases

BioCyciZFISH:G66-33664-MONOMER.

Miscellaneous databases

GeneWikiiFSCN2.
GenomeRNAii25794.
PROiO14926.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186765.
CleanExiHS_FSCN2.
GenevisibleiO14926. HS.

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...

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: November 2, 2016
This is version 136 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

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 one 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.