Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
GJA3 gap junction protein alpha 3	CX46 , CZP3 , CTRCT14	Homo sapiens	3	protein-coding	GJA5 , GJB4 , GJB5 , GJD3 , GJB7 , GJD2 , GJE1 , GJC1 , GJA8 , GJB6 , GJB2 , GJC3 , GJC2 , GJA4 , GJA1 , GJB1 , GJA9 , GJA10 , GJB3 , GJD4		121015

Summary

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

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 (4)

Go ID	Value	Evidence
0007267	involved_in cell-cell signaling	IBA
1990349	involved_in gap junction-mediated intercellular transport	IDA
0055085	involved_in transmembrane transport	IEA
0007601	involved_in visual perception	IEA

Gene Loss events - GJA3 (2 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_91KYHX	Dasypus novemcinctus	Cingulata	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_TBMOGP	Carlito syrichta	Primates	Gene deletion	Full	No	10.1093/icb/icy004