Homo sapiens Gene: FLG
Summary
InnateDB Gene IDBG-102479.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FLG
Gene Name filaggrin
Synonyms ATOD2;
Species Homo sapiens
Ensembl Gene ENSG00000143631
Encoded Proteins
filaggrin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:152302175-152325203
Strand Reverse strand
Band q21.3
Transcripts
ENST00000368799 ENSP00000357789
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
Experimentally validated
Total 28 [view]
Protein-Protein 28 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
Biological Process
GO:0007275 multicellular organismal development
GO:0030216 keratinocyte differentiation
GO:0061436 establishment of skin barrier
Cellular Component
GO:0005634 nucleus
GO:0005882 intermediate filament
GO:0016023 cytoplasmic membrane-bounded vesicle
Orthologs
No orthologs found for this gene
Cross-References
SwissProt P20930
TrEMBL I0B0K3 I0B0K5 I0B0K6 I0B0K8 Q4JFL9
UniProt Splice Variant
Entrez Gene 2312
UniGene Hs.654510
RefSeq NM_002016
HUGO HGNC:3748
OMIM 135940
CCDS CCDS30860
HPRD
IMGT
EMBL AL356504 JN184345 JN184347 JN184348 JN184350 L01089 L01090 M24355
GenPept AAA52454 AAA60176 AAA60177 AFH55054 AFH55056 AFH55057 AFH55059 CAI19595
RNA Seq Atlas 2312