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
- HGNC: 3960
- Entrez Gene: 25794
- Ensembl: ENSG00000186765
- OMIM: 607643
- UniProtKB: O14926
Previous GeneCards Identifiers for FSCN2 Gene
- GC17U990164
- GC17M080035
- GC17P080195
- GC17P077110
- GC17P079495
- GC17P074944
- GC17P081515
- GC17P081516
- GC17P081517
- GC17P081518
- GC17P081519
Summaries 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.
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FSCN2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 17q25.3 by Ensembl
- 17q25.3 by Entrez Gene
- 17q25.3 by HGNC
FSCN2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A0AVC4
- A8MRA6
Protein attributes for FSCN2 Gene
- Size:
- 492 amino acids
- Molecular mass:
- 55057 Da
- Quaternary structure:
- No Data Available
Protein Expression for FSCN2 Gene
Post-translational modifications for FSCN2 Gene
Other Protein References for FSCN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FSCN2
- Novus Biologicals Antibodies for FSCN2
-
Cloud-Clone Corp. Antibodies for FSCN2
- antibodies-online Antibodies for FSCN2: See all 40
- GeneTex FSCN2 antibody for FSCN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for FSCN2
Protein Products
-
OriGene Purified Proteins for FSCN2
- Search Origene for MassSpec and Protein Over-expression Lysates for FSCN2
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-
Cloud-Clone Corp. Proteins for FSCN2
- antibodies-online Proteins for FSCN2: See all 12
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FSCN2
Assay Products
- antibodies-online Kits for FSCN2: See all 2
No data available for DME Specific Peptides for FSCN2 Gene
Domains & Families for FSCN2 Gene
Gene Families for FSCN2 Gene
- HGNC:
Protein Domains for FSCN2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FSCN2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O14926- Family:
-
- Belongs to the fascin family.
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.
| 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 | -- |
Phenotypes for FSCN2 Gene
- MGI mutant phenotypes for FSCN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FSCN2:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for FSCN2 gene
-
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CRISPR Products
-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for FSCN2
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miRNA for FSCN2 Gene
- miRTarBase miRNAs that target FSCN2
miRNA Products
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for FSCN2
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-
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-
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Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 3 |
| nucleus | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IBA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0015629 | actin cytoskeleton | ISS,TAS | -- |
| GO:0031941 | filamentous actin | IBA | -- |
| GO:0032420 | stereocilium | IEA | -- |
Pathways & Interactions for FSCN2 Gene
No Data Available
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for FSCN2 Gene
Transcripts for FSCN2 Gene
mRNA/cDNA for FSCN2 Gene
- (4) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (17) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FSCN2 Gene
- Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for FSCN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FSCN2
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miRNA Products
- Search ViGene Biosciences for FSCN2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FSCN2
- Browse OriGene Inhibitory RNA Products For FSCN2
-
ViGene Biosciences ready-to-package AAV shRNAs for FSCN2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FSCN2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FSCN2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: |
Expression for FSCN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
-
Neurons
- Mature Rod Cells Outer Nuclear Layer
-
Pancreas (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for FSCN2 Gene
This gene is overexpressed in Pancreas (x8.0) and Thyroid (x5.1).
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
NURSA nuclear receptor signaling pathways regulating expression of FSCN2 Gene:
FSCN2SOURCE GeneReport for Unigene cluster for FSCN2 Gene:
Hs.118555mRNA 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
Primer Products
-
OriGene qPCR primer pairs for FSCN2
Orthologs for FSCN2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FSCN2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FSCN2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FSCN2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fscn2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fscn2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FSCN2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FSCN2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FSCN2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fscn2 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.26333 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fscn2b 34 35 |
|
||
| fscn2a 35 |
|
OneToMany | |||
| zgc73272 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012991 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sn 36 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for FSCN2 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSCN2 Gene
Disorders for FSCN2 Gene
(6) MalaCards diseases for FSCN2 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 30 |
|
|
| fscn2-related retinitis pigmentosa |
|
|
| retinitis pigmentosa |
|
|
| retinitis pigmentosa 17 |
|
|
| human monocytic ehrlichiosis |
|
|
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
No data available for Genatlas for FSCN2 Gene
Publications for FSCN2 Gene
- 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 22 46 64
- Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. (PMID: 14609921) Wada Y. … Tamai M. (Arch. Ophthalmol. 2003) 3 22 46 64
- 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 22 64
- 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 22 64
- 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 64
Products for FSCN2 Gene
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- VectorBuilder custom plasmid, inducible vectors for FSCN2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FSCN2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FSCN2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
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- (100) COMPARTMENTS
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