Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
SLC4A7 solute carrier family 4 member 7	NBC2 , NBC3 , SBC2 , NBCN1 , SLC4A6	Homo sapiens	28	protein-coding	SLC4A11 , SLC4A9 , SLC4A4 , SLC4A5 , SLC4A10 , SLC4A8 , SLC4A1 , SLC4A3 , SLC4A2		603353

Summary

This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

GeneOntology

Function (1)

Go ID	Value	Evidence
0008509	enables monoatomic anion transmembrane transporter activity	IEA

Component (10)

Go ID	Value	Evidence
0016324	is_active_in apical plasma membrane	IBA
0016323	is_active_in basolateral plasma membrane	IBA
0016323	located_in basolateral plasma membrane	IDA
0016020	located_in membrane	IDA
0016020	located_in membrane	NAS
0005886	is_active_in plasma membrane	IBA
0005886	located_in plasma membrane	IDA
0005886	located_in plasma membrane	IMP
0005886	located_in plasma membrane	TAS
0032420	located_in stereocilium	IEA

Process (14)

Go ID	Value	Evidence
0060117	involved_in auditory receptor cell development	IBA
0015701	involved_in bicarbonate transport	IBA
0015701	involved_in bicarbonate transport	IEA
0015701	involved_in bicarbonate transport	NAS
0015701	involved_in bicarbonate transport	TAS
0071363	involved_in cellular response to growth factor stimulus	IDA
0015698	involved_in inorganic anion transport	IEA
0098656	involved_in monoatomic anion transmembrane transport	IEA
0090383	involved_in phagosome acidification	IDA
0006164	involved_in purine nucleotide biosynthetic process	IMP
0006221	involved_in pyrimidine nucleotide biosynthetic process	IMP
0051453	involved_in regulation of intracellular pH	IBA
0035725	involved_in sodium ion transmembrane transport	IEA
0055085	involved_in transmembrane transport	IBA

Gene Loss events - SLC4A7 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_WZVF2E	Odobenus rosmarus	Carnivora	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004