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Protein

Fascin-2

Gene

FSCN2

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

Keywordsi

Molecular functionActin-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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000186765.11
HGNCiHGNC:3960 FSCN2
MIMi607643 gene
neXtProtiNX_O14926

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
GeneReviewsiFSCN2
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
ProteomicsDBi48307

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 Expressed in 82 organ(s), highest expression level in right lobe of thyroid gland
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
OMAiCMKKNGQ
OrthoDBiEOG091G0C6S
PhylomeDBiO14926
TreeFamiTF323992

Family and domain databases

CDDicd00257 Fascin, 4 hits
InterProiView protein in InterPro
IPR008999 Actin-crosslinking
IPR010431 Fascin
IPR022768 Fascin-domain
IPR024703 Fascin_metazoans
IPR030144 FSCN2
PANTHERiPTHR10551 PTHR10551, 1 hit
PTHR10551:SF22 PTHR10551:SF22, 1 hit
PfamiView protein in Pfam
PF06268 Fascin, 4 hits
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

Similar proteinsi

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
ProteomicsDBi48307

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
EuPathDBiHostDB:ENSG00000186765.11
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
OMAiCMKKNGQ
OrthoDBiEOG091G0C6S
PhylomeDBiO14926
TreeFamiTF323992

Miscellaneous databases

GeneWikiiFSCN2
GenomeRNAii25794
PROiPR:O14926
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186765 Expressed in 82 organ(s), highest expression level in right lobe of thyroid gland
CleanExiHS_FSCN2
GenevisibleiO14926 HS

Family and domain databases

CDDicd00257 Fascin, 4 hits
InterProiView protein in InterPro
IPR008999 Actin-crosslinking
IPR010431 Fascin
IPR022768 Fascin-domain
IPR024703 Fascin_metazoans
IPR030144 FSCN2
PANTHERiPTHR10551 PTHR10551, 1 hit
PTHR10551:SF22 PTHR10551:SF22, 1 hit
PfamiView protein in Pfam
PF06268 Fascin, 4 hits
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 historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 146 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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