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 Retinitis Pigmentosa. Gene Ontology (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.
Additional gene information for FSCN2 Gene
- Monarch Initiative
- Search for FSCN2 at DataMed
- Search for FSCN2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FSCN2 Gene
Genomics for FSCN2 Gene
GeneHancer (GH) Regulatory Elements for FSCN2 Gene
Promoters and enhancers for FSCN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around FSCN2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for FSCN2 Gene
Genomic Locations for FSCN2 Gene
- chr17:81,513,051-81,539,790
- (GRCh38/hg38)
- Size:
- 26,740 bases
- Orientation:
- Plus strand
- chr17:79,495,417-79,504,156
- (GRCh37/hg19)
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
No Post-translational modifications
Other Protein References for FSCN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
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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
- 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.
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for FSCN2 Gene
- MGI mutant phenotypes for FSCN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FSCN2:
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-
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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 | IBA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0015629 | actin cytoskeleton | IEA,ISS | -- |
| GO:0031941 | filamentous actin | IBA | -- |
| GO:0032420 | stereocilium | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FSCN2 Gene
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:
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-
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-
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for FSCN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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
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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 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FSCN2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | FSCN2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fscn2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fscn2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FSCN2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FSCN2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FSCN2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fscn2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.26333 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fscn2b 33 34 |
|
||
| fscn2a 34 |
|
OneToMany | |||
| zgc73272 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012991 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sn 35 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894544 | pathogenic, Deafness, autosomal dominant 20 | 81,511,913(+) | T/A/C | upstream_transcript_variant | |
| rs104894546 | pathogenic, Deafness, autosomal dominant 20 | 81,511,199(+) | G/A | upstream_transcript_variant | |
| rs1057518673 | likely-pathogenic, Baraitser-Winter Syndrome 2 | 81,512,237(+) | G/A | upstream_transcript_variant | |
| rs11549173 | conflicting-interpretations-of-pathogenicity, benign, not specified, Baraitser-Winter Syndrome 2, Deafness, autosomal dominant 20 | 81,511,276(+) | C/G/T | upstream_transcript_variant | |
| rs11549190 | pathogenic, not-provided, Baraitser-Winter Syndrome 2, not provided | 81,511,586(+) | G/A | upstream_transcript_variant |
| 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)
Additional Variant Information for FSCN2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSCN2 Gene
Disorders for FSCN2 Gene
(3) MalaCards diseases for FSCN2 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 30 |
|
|
| retinitis pigmentosa |
|
|
| retinitis pigmentosa 17 |
|
|
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.
Additional Disease Information for FSCN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MJ … Carballo M (Molecular vision 2005) 3 22 44 58
- 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 44 58
- 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 58
- 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 58
- 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 58
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- 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
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- Overview of 102 available FSCN2 gene related products
- orf clones - Search results for 102 available FSCN2 gene related products
- Overview of 102 available FSCN2 gene related products
- genomics-online: gRNA clones - Search results for 102 available FSCN2 gene related products
- Overview of 102 available FSCN2 gene related products
- genomics-online: primer clones - Search results for 102 available FSCN2 gene related products
- Overview of 102 available FSCN2 gene related products
- genomics-online: shRNA clones - Search results for 102 available FSCN2 gene related products
- Overview of 102 available FSCN2 gene related products
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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew