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Gene : FSCN2 Homo sapiens

Name  ? fascin actin-bundling protein 2, retinal Cytological Location  17q25.3
Brief Description  fascin actin-bundling protein 2, retinal
Description  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]
  • synonyms:
  • uc010wup.3,
  • fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal),
  • NM_012418,
  • RP30,
  • RFSN,
  • RFSN,
  • AF030165,
  • FSCN2,
  • OTTHUMG00000167477,
  • HGNC:3960,
  • fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),
  • RP30
  • identifiers:
  • 25794,
  • ENSG00000186765,
  • FSCN2

Genome feature

Region: gene ? Length: 24112  
Location: 17:81513019-81537130 Cyto location: 17q25.3


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results