Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
KRT2 keratin 2	K2e , KRTE , CK-2e , KRT2A , KRT2E	Homo sapiens	9	protein-coding	KRT8 , KRT6C , KRT6B , KRT6A , KRT80 , KRT74 , KRT71 , KRT72 , KRT73 , KRT77 , KRT78 , KRT4 , KRT79 , KRT76 , KRT3 , KRT1 , KRT75 , KRT5 , KRT85 , KRT86 , KRT81 , KRT83 , KRT84 , KRT82 , KRT7		600194

Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0008092	enables cytoskeletal protein binding	IEA

Component (9)

Go ID	Value	Evidence
0001533	located_in cornified envelope	IDA
0005737	located_in cytoplasm	IDA
0005829	located_in cytosol	TAS
0070062	located_in extracellular exosome	HDA
0005615	located_in extracellular space	HDA
0005882	located_in intermediate filament	TAS
0045095	is_active_in keratin filament	IBA
0016020	located_in membrane	HDA
0005634	located_in nucleus	HDA

Process (10)

Go ID	Value	Evidence
0008544	involved_in epidermis development	TAS
0045109	involved_in intermediate filament organization	IBA
0031424	involved_in keratinization	IBA
0031424	involved_in keratinization	IDA
0032980	involved_in keratinocyte activation	IDA
0003334	involved_in keratinocyte development	IEA
0051546	involved_in keratinocyte migration	IDA
0043616	involved_in keratinocyte proliferation	IDA
0018149	involved_in peptide cross-linking	IDA
0045684	involved_in positive regulation of epidermis development	ISS

Gene Loss events - KRT2 (12 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_2YZ9Z1	Orcinus orca	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_7F5U8H	Balaenoptera acutorostrata	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1016/j.cub.2021.02.057
GL_E7Z0EV	Tursiops truncatus	Artiodactyla	Gene deletion	Full	No	10.1016/j.cub.2021.02.057
GL_JOS7YD	Orcinus orca	Artiodactyla	Gene deletion	Full	No	10.1016/j.cub.2021.02.057
GL_MCRADY	Balaenoptera acutorostrata	Artiodactyla	Other	Full	No	10.1186/s12983-017-0225-x
GL_NYPYAT	Balaena mysticetus	Artiodactyla	Other	Full	No	10.1186/s12983-017-0225-x
GL_OSSMXH	Physeter catodon	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_PAPFT6	Hippopotamus amphibius	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Hippopotamidae	10.1016/j.cub.2021.02.057
GL_RZP531	Neophocaena asiaeorientalis asiaeorientalis	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_SDKAPH	Lipotes vexillifer	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x