FSCN2

Last updated
FSCN2
Identifiers
Aliases FSCN2 , RFSN, RP30, fascin actin-bundling protein 2, retinal
External IDs OMIM: 607643 MGI: 2443337 HomoloGene: 22722 GeneCards: FSCN2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077182
NM_012418

NM_172802

RefSeq (protein)

NP_001070650
NP_036550

NP_766390

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

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

Contents

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]

Related Research Articles

Retinitis pigmentosa Gradual retinal degeneration leading to progressive sight loss

Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.

Peripherin 2

Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.

PRPF31 Protein-coding gene in the species Homo sapiens

PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.

RP2 (gene) Protein-coding gene in the species Homo sapiens

Protein XRP2 is a protein that in humans is encoded by the RP2 gene.

SAG (gene)

S-arrestin is a protein that in humans is encoded by the SAG gene.

CRB1 Protein-coding gene in the species Homo sapiens

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

EFEMP1 Protein-coding gene in the species Homo sapiens

EGF-containing fibulin-like extracellular matrix protein 1 is a protein that in humans is encoded by the EFEMP1 gene.

GUCA1A Protein-coding gene in the species Homo sapiens

Guanylyl cyclase-activating protein 1 is an enzyme that in humans is encoded by the GUCA1A gene.

TULP1

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.

ROM1

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.

RP1 Protein-coding gene in the species Homo sapiens

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.

VSX1 Protein-coding gene in the species Homo sapiens

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.

Hemicentin 1 Protein-coding gene in the species Homo sapiens

Hemicentin-1 is a protein that in humans is encoded by the HMCN1 gene.

CNGB1

Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.

PDE6A

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.

RP9

Retinitis pigmentosa 9 , also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.

MFRP

Membrane frizzled-related protein is a protein that in humans is encoded by the MFRP gene.

IMPDH1

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.

<span class="mw-page-title-main">Retinal degeneration (rhodopsin mutation)</span> Retinopathy

Retinal degeneration is a retinopathy which consists in the deterioration of the retina caused by the progressive death of its cells. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P., or disease. These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.

FSCN3

Fascin-3 also known as testis fascin is a protein that in humans is encoded by the FSCN3 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000186765 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)".

Further reading