Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
FLG filaggrin	FLG1 , ATOD2 , FLG-1	Homo sapiens	3	protein-coding	HRNR , FLG2		135940

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]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005509	enables calcium ion binding	IEA

Component (8)

Go ID	Value	Evidence
0062023	located_in collagen-containing extracellular matrix	HDA
0001533	is_active_in cornified envelope	IBA
0001533	located_in cornified envelope	IDA
0036464	located_in cytoplasmic ribonucleoprotein granule	IDA
0005829	located_in cytosol	TAS
0036457	is_active_in keratohyalin granule	IBA
0036457	located_in keratohyalin granule	IDA
0005634	located_in nucleus	HDA

Process (4)

Go ID	Value	Evidence
0061436	involved_in establishment of skin barrier	IBA
0061436	involved_in establishment of skin barrier	IEP
0030216	involved_in keratinocyte differentiation	TAS
0018149	involved_in peptide cross-linking	IDA

Gene Loss events - FLG (2 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_DTRKDR	Trichechus manatus	Sirenia	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2
GL_FNGZBT	Dugong dugon	Sirenia	LOF (frameshift, premature stop, ss)	Full	No	10.1038/s41598-024-60099-2