Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
FLG2 filaggrin 2	IFPS , PSS6	Homo sapiens	3	protein-coding	FLG , HRNR		616284

Summary

The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005509	enables calcium ion binding	IEA

Component (6)

Go ID	Value	Evidence
0001533	is_active_in cornified envelope	IBA
0005737	located_in cytoplasm	IDA
0005576	located_in extracellular region	TAS
0036457	is_active_in keratohyalin granule	IBA
0005634	located_in nucleus	HDA
1904724	located_in tertiary granule lumen	TAS

Process (4)

Go ID	Value	Evidence
0007155	involved_in cell adhesion	IMP
0048730	involved_in epidermis morphogenesis	IMP
0061436	involved_in establishment of skin barrier	IBA
0061436	involved_in establishment of skin barrier	IEP

Gene Loss events - FLG2 (2 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_MMINO5	Dugong dugon	Sirenia	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2
GL_SUVGTY	Trichechus manatus	Sirenia	LOF (frameshift, premature stop, ss)	Undetermined	No	10.1038/s41598-024-60099-2