FSCN2

25794

FSCN2
FSCN2
Identifiers
AliasesFSCN2, RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDsOMIM: 607643; MGI: 2443337; GeneCards: FSCN2
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

25794

238021

Ensembl

ENSG00000186765

ENSMUSG00000025380

UniProt

O14926

Q32M02

RefSeq (mRNA)

NM_001077182
NM_012418

NM_172802

RefSeq (protein)

NP_001070650
NP_036550

NP_766390

Location (UCSC)Chr 17: 81.53 – 81.54 MbChr 11: 120.25 – 120.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.[5][6]

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.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186765 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025380 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Bardien-Kruger S, Greenberg J, Tubb B, Bryan J, Queimado L, Lovett M, Ramesar RS (Jun 1999). "Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin". Eur J Hum Genet. 7 (3): 332–8. doi:10.1038/sj.ejhg.5200302. PMID 10234509.
  6. ^ a b "Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)".

Further reading


Stub icon

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information.

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.