Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
GJA8 gap junction protein alpha 8	CAE , CAE1 , CX50 , CZP1 , MP70 , CTRCT1	Homo sapiens	3	protein-coding	GJA5 , GJB4 , GJB5 , GJD3 , GJB7 , GJD2 , GJE1 , GJC1 , GJB6 , GJB2 , GJC3 , GJC2 , GJA4 , GJA3 , GJA1 , GJB1 , GJA9 , GJA10 , GJB3 , GJD4		600897

Summary

This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005243	enables gap junction channel activity	IBA

Component (3)

Go ID	Value	Evidence
0005922	part_of connexin complex	IBA
0005922	part_of connexin complex	IDA
0005886	located_in plasma membrane	IDA

Process (6)

Go ID	Value	Evidence
0007267	involved_in cell-cell signaling	IBA
1990349	involved_in gap junction-mediated intercellular transport	IBA
1990349	involved_in gap junction-mediated intercellular transport	IDA
0002088	involved_in lens development in camera-type eye	IEA
0032645	involved_in regulation of granulocyte macrophage colony-stimulating factor production	IEA
0055085	involved_in transmembrane transport	IEA

Gene Loss events - GJA8 (3 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_7KJAXP	Chrysochloris asiatica	Afrosoricida	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_SJQSR5	Miniopterus natalensis	Chiroptera	Gene deletion	Full	No	10.1093/icb/icy004
GL_UXQRYZ	Condylura cristata	Eulipotyphla	Gene deletion	Full	No	10.1093/icb/icy004