Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
AMELX amelogenin X-linked	AMG , AI1E , AIH1 , ALGN , AMGL , AMGX	Homo sapiens	8	protein-coding			300391

Summary

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0008083	enables growth factor activity	ISS

Component (6)

Go ID	Value	Evidence
0009986	located_in cell surface	ISS
0062023	is_active_in collagen-containing extracellular matrix	IBA
0062023	located_in collagen-containing extracellular matrix	IDA
0030139	located_in endocytic vesicle	IEA
0005788	located_in endoplasmic reticulum lumen	TAS
0005576	located_in extracellular region	IEA

Process (19)

Go ID	Value	Evidence
0097186	involved_in amelogenesis	ISS
0031214	involved_in biomineral tissue development	TAS
0007155	involved_in cell adhesion	ISS
0002062	involved_in chondrocyte differentiation	ISS
0070166	involved_in enamel mineralization	IBA
0070166	involved_in enamel mineralization	IMP
0070166	involved_in enamel mineralization	ISS
0001837	involved_in epithelial to mesenchymal transition	ISS
0042475	involved_in odontogenesis of dentin-containing tooth	ISS
0001649	involved_in osteoblast differentiation	ISS
0032967	involved_in positive regulation of collagen biosynthetic process	ISS
0070172	involved_in positive regulation of tooth mineralization	TAS
0042127	involved_in regulation of cell population proliferation	ISS
0051592	involved_in response to calcium ion	IEA
0007584	involved_in response to nutrient	IEA
0009410	involved_in response to xenobiotic stimulus	IEA
0007165	involved_in signal transduction	TAS
0034505	involved_in tooth mineralization	IMP
0034505	involved_in tooth mineralization	ISS

Gene Loss events - AMELX (16 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_QD0FHI	Caperea marginata	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.ympev.2022.107463
GL_QILE9D	Balaenoptera borealis	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.ympev.2022.107463
GL_RCAQ2B	Megaptera novaeangliae	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.ympev.2022.107463
GL_SQHM1L	Balaenoptera physalus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.ympev.2022.107463
GL_WVB9O3	Kogia sima	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.ympev.2022.107463
GL_X9WBIJ	Balaenoptera acutorostrata	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.ympev.2022.107463