Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
KRT12 keratin 12	K12 , MECD1	Homo sapiens	8	protein-coding	BFSP2 , KRT18 , KRT24 , KRT23 , KRT33B , KRT34 , LOC100653049 , KRT33A , KRT31 , KRT40 , KRT38 , KRT37 , KRT39 , KRT35 , KRT32 , KRT36 , KRT19 , KRT27 , KRT28 , KRT25 , KRT26 , KRT10 , KRT17 , KRT20 , KRT16 , KRT14 , KRT9 , KRT15 , KRT13		601687

Summary

KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005198	enables structural molecule activity	IEA

Component (4)

Go ID	Value	Evidence
0005856	is_active_in cytoskeleton	IBA
0005829	located_in cytosol	TAS
0070062	located_in extracellular exosome	HDA
0005882	located_in intermediate filament	IEA

Process (6)

Go ID	Value	Evidence
0061303	involved_in cornea development in camera-type eye	IMP
0030855	involved_in epithelial cell differentiation	IBA
0045109	involved_in intermediate filament organization	IBA
0002009	involved_in morphogenesis of an epithelium	IBA
0002009	involved_in morphogenesis of an epithelium	IMP
0007601	involved_in visual perception	TAS

Gene Loss events - KRT12 (4 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_1KYUQM	Nannospalax galili	Rodentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_6L6BGE	Rhinolophus sinicus	Chiroptera	Gene deletion	Full	No	10.1093/icb/icy004
GL_H4WLKA	Chrysochloris asiatica	Afrosoricida	Gene deletion	Full	No	10.1093/icb/icy004
GL_MMTIA8	Condylura cristata	Eulipotyphla	Gene deletion	Full	No	10.1093/icb/icy004