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Gene : BFSP2 Homo sapiens

Name  ? beaded filament structural protein 2 Cytological Location  3q22.1
Brief Description  beaded filament structural protein 2
Description  More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
  • synonyms:
  • beaded filament structural protein 2, phakinin,
  • CP49,
  • BFSP2,
  • PHAKOSIN,
  • LIFL-L,
  • CP47,
  • OTTHUMG00000159719,
  • phakinin,
  • CP49,
  • LIFL-L,
  • CTRCT12,
  • uc003epn.3,
  • HGNC:1041,
  • CP47,
  • NM_003571,
  • U48224
  • identifiers:
  • 8419,
  • ENSG00000170819,
  • BFSP2

Genome feature

Region: gene ? Length: 77327  
Location: 3:133397882-133475208 Cyto location: 3q22.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

57 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results