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Gene : FLG Homo sapiens

Name  ? filaggrin Cytological Location  1q21.3
Brief Description  filaggrin
Description  The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
  • synonyms:
  • HGNC:3748,
  • uc001ezu.1,
  • FLG,
  • ATOD2,
  • NM_002016,
  • OTTHUMG00000012202
  • identifiers:
  • 2312,
  • ENSG00000143631,
  • FLG

Genome feature

Region: gene ? Length: 23075  
Location: 1:152302165-152325239 reverse strand Cyto location: 1q21.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

18 Data Sets

1 Homologues

0 Located Features

97 Rna Seq Results