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Aliases for FSCN2 Gene

Aliases for FSCN2 Gene

  • Fascin Actin-Bundling Protein 2, Retinal 2 3
  • RFSN 3 6
  • RP30 3 6
  • Fascin (Strongylocentrotus Purpuratus) Homolog 2 (Actin-Bundling Protein, Retinal) 2
  • Fascin Homolog 2, Actin-Bundling Protein, Retinal (Strongylocentrotus Purpuratus) 2
  • Fascin Homolog 2, Actin-Bundling Protein, Retinal 3
  • Retinal Fascin 4
  • Fascin-2 3

External Ids for FSCN2 Gene

Previous GeneCards Identifiers for FSCN2 Gene

  • GC17U990164
  • GC17M080035
  • GC17P080195
  • GC17P077110
  • GC17P079495
  • GC17P074944

Summaries for FSCN2 Gene

Entrez Gene Summary for FSCN2 Gene

  • This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for FSCN2 Gene

FSCN2 (Fascin Actin-Bundling Protein 2, Retinal) is a Protein Coding gene. Diseases associated with FSCN2 include retinitis pigmentosa 30 and fscn2-related retinitis pigmentosa. GO annotations related to this gene include actin binding and protein binding, bridging. An important paralog of this gene is FSCN1.

UniProtKB/Swiss-Prot for FSCN2 Gene

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

Gene Wiki entry for FSCN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FSCN2 Gene

Genomics for FSCN2 Gene

Regulatory Elements for FSCN2 Gene

Genomic Location for FSCN2 Gene

Start:
81,513,995 bp from pter
End:
81,537,130 bp from pter
Size:
23,136 bases
Orientation:
Plus strand

Genomic View for FSCN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FSCN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSCN2 Gene

Proteins for FSCN2 Gene

  • Protein details for FSCN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14926-FSCN2_HUMAN
    Recommended name:
    Fascin-2
    Protein Accession:
    O14926
    Secondary Accessions:
    • A0AVC4
    • A8MRA6

    Protein attributes for FSCN2 Gene

    Size:
    492 amino acids
    Molecular mass:
    55057 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FSCN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FSCN2 Gene

Proteomics data for FSCN2 Gene at MOPED

Post-translational modifications for FSCN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FSCN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FSCN2 Gene

Domains for FSCN2 Gene

Gene Families for FSCN2 Gene

HGNC:

Protein Domains for FSCN2 Gene

Suggested Antigen Peptide Sequences for FSCN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14926

UniProtKB/Swiss-Prot:

FSCN2_HUMAN :
  • O14926
Family:
  • Belongs to the fascin family.
genes like me logo Genes that share domains with FSCN2: view

Function for FSCN2 Gene

Molecular function for FSCN2 Gene

UniProtKB/Swiss-Prot Function: Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis

Gene Ontology (GO) - Molecular Function for FSCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0030674 protein binding, bridging IEA --
GO:0051015 actin filament binding ISS --
genes like me logo Genes that share ontologies with FSCN2: view
genes like me logo Genes that share phenotypes with FSCN2: view

Animal Models for FSCN2 Gene

MGI Knock Outs for FSCN2:

miRNA for FSCN2 Gene

miRTarBase miRNAs that target FSCN2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FSCN2 Gene

Localization for FSCN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FSCN2 Gene

Cytoplasm, cytoskeleton. Cell projection, stereocilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FSCN2 Gene COMPARTMENTS Subcellular localization image for FSCN2 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FSCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton ISS --
GO:0032420 stereocilium IEA --
genes like me logo Genes that share ontologies with FSCN2: view

Pathways for FSCN2 Gene

SuperPathways for FSCN2 Gene

No Data Available

Interacting Proteins for FSCN2 Gene

Gene Ontology (GO) - Biological Process for FSCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS 10783262
GO:0009653 anatomical structure morphogenesis TAS 10783262
GO:0030036 actin cytoskeleton organization ISS --
GO:0042462 eye photoreceptor cell development IEA --
GO:0051017 actin filament bundle assembly TAS 10783262
genes like me logo Genes that share ontologies with FSCN2: view

No data available for Pathways by source for FSCN2 Gene

Transcripts for FSCN2 Gene

mRNA/cDNA for FSCN2 Gene

Unigene Clusters for FSCN2 Gene

Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FSCN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for FSCN2 Gene

GeneLoc Exon Structure for
FSCN2
ECgene alternative splicing isoforms for
FSCN2

Expression for FSCN2 Gene

mRNA expression in normal human tissues for FSCN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FSCN2 Gene

This gene is overexpressed in Pancreas (8.0) and Thyroid (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FSCN2 Gene

SOURCE GeneReport for Unigene cluster for FSCN2 Gene Hs.118555

mRNA Expression by UniProt/SwissProt for FSCN2 Gene

O14926-FSCN2_HUMAN
Tissue specificity: Localized specifically in the outer and inner segments of the photoreceptor cells in the retina
genes like me logo Genes that share expressions with FSCN2: view

Orthologs for FSCN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FSCN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FSCN2 35
  • 94.15 (n)
  • 93.42 (a)
FSCN2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FSCN2 35
  • 90.04 (n)
  • 93.9 (a)
FSCN2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FSCN2 35
  • 87.79 (n)
  • 88.37 (a)
FSCN2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fscn2 35
  • 85.84 (n)
  • 90.85 (a)
Fscn2 16
Fscn2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FSCN2 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fscn2 35
  • 85.77 (n)
  • 91.87 (a)
chicken
(Gallus gallus)
Aves FSCN2 35
  • 76.51 (n)
  • 70.47 (a)
FSCN2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FSCN2 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.26333 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fscn2 35
  • 63.96 (n)
  • 65.45 (a)
zebrafish
(Danio rerio)
Actinopterygii fscn2a 36
  • 62 (a)
OneToMany
fscn2b 35
  • 64.76 (n)
  • 63.8 (a)
fscn2b 36
  • 64 (a)
OneToMany
zgc73272 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012991 35
  • 53.74 (n)
  • 40.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta sn 35
  • 51.19 (n)
  • 39.08 (a)
sn 36
  • 35 (a)
OneToMany
sn 37
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for FSCN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FSCN2 Gene

ENSEMBL:
Gene Tree for FSCN2 (if available)
TreeFam:
Gene Tree for FSCN2 (if available)

Paralogs for FSCN2 Gene

Paralogs for FSCN2 Gene

Selected SIMAP similar genes for FSCN2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FSCN2: view

Variants for FSCN2 Gene

Sequence variations from dbSNP and Humsavar for FSCN2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1802103 -- 81,536,743(+) GTCTA(C/T)GACGT reference, synonymous-codon
rs2075720 -- 81,528,493(+) GAGGG(C/T)GCATC utr-variant-5-prime
rs2075721 -- 81,536,375(+) CCCAC(A/G)GAACG intron-variant
rs2075722 -- 81,536,446(+) TCTGA(A/G)TGTCC intron-variant
rs3934978 -- 81,525,740(-) TATTA(A/G)TTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FSCN2 Gene

Variant ID Type Subtype PubMed ID
esv26223 CNV Gain+Loss 19812545
nsv828128 CNV Loss 20364138
nsv909000 CNV Loss 21882294
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3318n71 CNV Loss 21882294
dgv3320n71 CNV Loss 21882294
dgv3324n71 CNV Loss 21882294
dgv3329n71 CNV Loss 21882294
dgv3330n71 CNV Loss 21882294
dgv3331n71 CNV Loss 21882294
nsv909105 CNV Loss 21882294
nsv833567 CNV Loss 17160897
nsv833568 CNV Loss 17160897
dgv3332n71 CNV Loss 21882294
nsv909107 CNV Loss 21882294
nsv470620 CNV Loss 18288195
nsv2164 CNV Insertion 18451855
nsv475605 CNV Insertion 20440878
esv2716452 CNV Deletion 23290073
esv2716453 CNV Deletion 23290073
esv2673090 CNV Deletion 23128226

Relevant External Links for FSCN2 Gene

HapMap Linkage Disequilibrium report
FSCN2
Human Gene Mutation Database (HGMD)
FSCN2
Locus Specific Mutation Databases (LSDB)
FSCN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSCN2 Gene

Disorders for FSCN2 Gene

(1) OMIM Diseases for FSCN2 Gene (607643)

UniProtKB/Swiss-Prot

FSCN2_HUMAN
  • 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. {ECO:0000269 PubMed:11527955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for FSCN2 Gene

(3) Novoseek inferred disease relationships for FSCN2 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 81 8
retinal degeneration 62.5 2
retinopathy 43.7 1

Relevant External Links for FSCN2

Genetic Association Database (GAD)
FSCN2
Human Genome Epidemiology (HuGE) Navigator
FSCN2
genes like me logo Genes that share disorders with FSCN2: view

Publications for FSCN2 Gene

  1. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. (PMID: 10783262) Tubb B.E. … Bryan J. (Genomics 2000) 3 4 23
  2. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. (PMID: 11527955) Wada Y. … Tamai M. (Invest. Ophthalmol. Vis. Sci. 2001) 3 4 23
  3. Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. (PMID: 14609921) Wada Y. … Tamai M. (Arch. Ophthalmol. 2003) 3 23 48
  4. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. (PMID: 16280978) Gamundi M.J. … Carballo M. (Mol. Vis. 2005) 3 23 48
  5. Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. (PMID: 10234509) Bardien-Kruger S. … Ramesar R.S. (Eur. J. Hum. Genet. 1999) 2 3 4

Products for FSCN2 Gene

Sources for FSCN2 Gene

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