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Aliases for FSCN2 Gene

Aliases for FSCN2 Gene

  • Fascin Actin-Bundling Protein 2, Retinal 2 3 5
  • 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
  • RFSN 3
  • RP30 3

External Ids for FSCN2 Gene

Previous GeneCards Identifiers for FSCN2 Gene

  • GC17U990164
  • GC17M080035
  • GC17P080195
  • GC17P077110
  • GC17P079495
  • GC17P074944
  • GC17P081515
  • GC17P081516
  • GC17P081517
  • GC17P081518
  • GC17P081519

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

Additional gene information for FSCN2 Gene

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

Genomics for FSCN2 Gene

Regulatory Elements for FSCN2 Gene

Enhancers for FSCN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H081558 1.4 Ensembl ENCODE dbSUPER 12.9 +51.3 51312 11 PKNOX1 FOXA2 NFIB ZSCAN4 SIN3A FEZF1 BATF RAD21 ZNF366 FOS NPLOC4 TSPAN10 ARL16 OXLD1 ENSG00000229848 FSCN2 ENSG00000262877 PDE6G CCDC137 GCGR
GH17H081508 1.4 ENCODE dbSUPER 12.3 +1.4 1391 11 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF766 ALYREF ACTG1 HGS FAAP100 ENSG00000265678 HEXDC CCDC57 FSCN2 RFNG TEPSIN
GH17H081535 1.3 Ensembl ENCODE dbSUPER 11.6 +24.3 24342 4 HDGF CTCF KLF1 MAX ARID4B RAD21 HIC1 CTBP1 GATAD1 POLR2A FSCN2 ARL16 TSPAN10 ACTG1 GC17P081552
GH17H081452 1.4 FANTOM5 Ensembl ENCODE 9 -54.9 -54949 10 ZNF76 BMI1 GLIS2 EGR1 ELK1 ZNF548 EGR2 ZNF680 CEBPB REST FAAP100 OGFOD3 ENSG00000260563 FSCN2 HGS ACTG1 TSPAN10 ENSG00000264548 LOC105371926 ENSG00000263271
GH17H081470 1.6 FANTOM5 Ensembl ENCODE 7.1 -41.2 -41244 1 PKNOX1 ATF1 YY1 FOS ATF7 YY2 NFYC REST ZNF592 MEF2D OGFOD3 NPLOC4 FAAP100 RFNG HEXDC FSCN2 ACTG1 MCRIP1 PCYT2 OXLD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FSCN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FSCN2 Gene

Chromosome:
17
Start:
81,513,051 bp from pter
End:
81,539,790 bp from pter
Size:
26,740 bases
Orientation:
Plus strand

Genomic View for FSCN2 Gene

Genes around FSCN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSCN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FSCN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FSCN2 Gene

No data available for DME Specific Peptides for FSCN2 Gene

Domains & Families for FSCN2 Gene

Gene Families for FSCN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 :
  • Belongs to the fascin family.
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.

Phenotypes From GWAS Catalog for FSCN2 Gene

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:0032403 protein complex binding IEA --
GO:0051015 actin filament binding ISS,IBA --
genes like me logo Genes that share ontologies with FSCN2: view
genes like me logo Genes that share phenotypes with FSCN2: view

Human Phenotype Ontology for FSCN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FSCN2 Gene

MGI Knock Outs for FSCN2:

Animal Model Products

CRISPR Products

miRNA for FSCN2 Gene

miRTarBase miRNAs that target FSCN2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FSCN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FSCN2 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FSCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton IEA,ISS --
GO:0031941 filamentous actin IBA --
GO:0032420 stereocilium IEA --
genes like me logo Genes that share ontologies with FSCN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FSCN2 Gene

Pathways & Interactions for FSCN2 Gene

SuperPathways for FSCN2 Gene

No Data Available

Interacting Proteins for FSCN2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000334665%0d%0a9606.ENSP00000297029%0d%0a9606.ENSP00000248444%0d%0a9606.ENSP00000257861%0d%0a9606.ENSP00000362924%0d%0a9606.ENSP00000263867%0d%0a
Selected Interacting proteins: ENSP00000334665 O14926-FSCN2_HUMAN for FSCN2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for FSCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IEA --
GO:0007163 establishment or maintenance of cell polarity IBA --
GO:0007601 visual perception TAS 10783262
GO:0009653 anatomical structure morphogenesis TAS 10783262
GO:0016477 cell migration IBA --
genes like me logo Genes that share ontologies with FSCN2: view

No data available for Pathways by source and SIGNOR curated interactions for FSCN2 Gene

Drugs & Compounds for FSCN2 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FSCN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x8.0) and Thyroid (x5.1).

Protein differential expression in normal tissues from HIPED for FSCN2 Gene

This gene is overexpressed in Retina (54.0) and Peripheral blood mononuclear cells (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FSCN2 Gene



Protein tissue co-expression partners for FSCN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FSCN2 Gene:

FSCN2

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.

Evidence on tissue expression from TISSUES for FSCN2 Gene

  • Eye(4.5)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FSCN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with FSCN2: view

Primer Products

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 33 34
  • 94.15 (n)
cow
(Bos Taurus)
Mammalia FSCN2 33 34
  • 90.04 (n)
dog
(Canis familiaris)
Mammalia FSCN2 33 34
  • 87.79 (n)
mouse
(Mus musculus)
Mammalia Fscn2 33 16 34
  • 85.84 (n)
rat
(Rattus norvegicus)
Mammalia Fscn2 33
  • 85.77 (n)
oppossum
(Monodelphis domestica)
Mammalia FSCN2 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves FSCN2 33 34
  • 76.51 (n)
lizard
(Anolis carolinensis)
Reptilia FSCN2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fscn2 33
  • 63.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26333 33
zebrafish
(Danio rerio)
Actinopterygii fscn2b 33 34
  • 64.76 (n)
fscn2a 34
  • 62 (a)
OneToMany
zgc73272 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012991 33
  • 53.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta sn 35 33 34
  • 51.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
Species where no ortholog for FSCN2 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs104894544 Pathogenic 81,511,913(-) AGAGA(A/G/T)GATGA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs104894546 Pathogenic 81,511,199(-) CCAGC(C/T)TTCCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs11549190 Pathogenic 81,511,586(-) CGTGG(C/T)CATCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs267606630 Pathogenic 81,511,912(-) GAGAA(A/C/G)ATGAC nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, missense
rs267606631 Pathogenic 81,511,269(-) GCTAC(A/G)AGCTG nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv26223 CNV gain+loss 19812545
esv2673090 CNV deletion 23128226
esv2716452 CNV deletion 23290073
esv2716453 CNV deletion 23290073
nsv1077845 CNV duplication 25765185
nsv1131344 CNV deletion 24896259
nsv1141311 CNV duplication 24896259
nsv1142906 CNV tandem duplication 24896259
nsv1148106 CNV duplication 26484159
nsv2164 CNV insertion 18451855
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv576181 CNV loss 21841781
nsv828128 CNV loss 20364138
nsv833567 CNV loss 17160897
nsv833568 CNV loss 17160897
nsv952389 CNV deletion 24416366

Variation tolerance for FSCN2 Gene

Gene Damage Index Score: 3.09; 50.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FSCN2 Gene

Human Gene Mutation Database (HGMD)
FSCN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSCN2

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

Disorders for FSCN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FSCN2 Gene - From: HGMD, OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 30
  • rp30
fscn2-related retinitis pigmentosa
  • retinitis pigmentosa 30
retinitis pigmentosa
  • retinitis pigmentosa 1
retinitis pigmentosa 17
  • rp17
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
- elite association - COSMIC cancer census association via MalaCards
Search FSCN2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FSCN2

Genetic Association Database (GAD)
FSCN2
Human Genome Epidemiology (HuGE) Navigator
FSCN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FSCN2
genes like me logo Genes that share disorders with FSCN2: view

No data available for Genatlas for FSCN2 Gene

Publications for FSCN2 Gene

  1. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. (PMID: 16280978) Gamundi MJ … Carballo M (Molecular vision 2005) 3 22 45 60
  2. Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. (PMID: 14609921) Wada Y … Tamai M (Archives of ophthalmology (Chicago, Ill. : 1960) 2003) 3 22 45 60
  3. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. (PMID: 11527955) Wada Y … Tamai M (Investigative ophthalmology & visual science 2001) 3 4 22 60
  4. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. (PMID: 10783262) Tubb BE … Bryan J (Genomics 2000) 3 4 22 60
  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 RS (European journal of human genetics : EJHG 1999) 2 3 4 60

Products for FSCN2 Gene

Sources for FSCN2 Gene

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