Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
SERPINB7 serpin family B member 7	PPKN , TP55 , MEGSIN	Homo sapiens	11	protein-coding	SERPINA9 , SERPINA7 , SERPINA12 , SERPINA11 , SERPINA13P , SERPINA4 , SERPINA5 , SERPINA3 , SERPINA6 , SERPINA2 , SERPINA1 , AGT , SERPINA10 , SERPINC1 , SERPINF1 , SERPINH1 , SERPIND1 , SERPINE1 , SERPINI2 , SERPINI1 , SERPINF2 , SERPING1 , SERPINB8 , SERPINB9 , SERPINB6 , SERPINE2 , SERPINE3 , SERPINB5 , SERPINB12 , SERPINB13 , SERPINB3 , SERPINB4 , SERPINB2 , SERPINB10 , SERPINB11 , SERPINB1		603357

Summary

This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneOntology

Function (1)

Go ID	Value	Evidence
0004867	enables serine-type endopeptidase inhibitor activity	IBA

Component (2)

Go ID	Value	Evidence
0005737	located_in cytoplasm	IEA
0005615	is_active_in extracellular space	IBA

Process (5)

Go ID	Value	Evidence
0010951	involved_in negative regulation of endopeptidase activity	IBA
0032967	involved_in positive regulation of collagen biosynthetic process	IEA
0072126	involved_in positive regulation of glomerular mesangial cell proliferation	IEA
0090362	involved_in positive regulation of platelet-derived growth factor production	IEA
0032914	involved_in positive regulation of transforming growth factor beta1 production	IEA

Gene Loss events - SERPINB7 (4 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_05ZEKU	Physeter catodon	Artiodactyla	Other	Full	Cetacea	10.1126/sciadv.aaw6671
GL_7OEDZE	Orcinus orca	Artiodactyla	Other	Full	Cetacea	10.1126/sciadv.aaw6671
GL_SXZ5FR	Tursiops truncatus	Artiodactyla	Other	Full	Cetacea	10.1126/sciadv.aaw6671
GL_U8AHKQ	Balaenoptera acutorostrata	Artiodactyla	Other	Full	Cetacea	10.1126/sciadv.aaw6671