Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
PKD2L1 polycystin 2 like 1, transient receptor potential cation channel	PCL , PKDL , PKD2L , TRPP3	Homo sapiens	16	protein-coding	PKDREJ , PKD1L1 , PKD1L3 , PKD1L2 , PKD2 , PKD2L2		604532

Summary

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneOntology

Function (1)

Go ID	Value	Evidence
0051393	enables alpha-actinin binding	IPI

Component (15)

Go ID	Value	Evidence
0015629	located_in actin cytoskeleton	IDA
0034704	part_of calcium channel complex	IDA
0009986	colocalizes_with cell surface	ISS
0060170	located_in ciliary membrane	IEA
0031410	located_in cytoplasmic vesicle	IEA
0005829	located_in cytosol	IDA
0005783	located_in endoplasmic reticulum	ISS
0043231	located_in intracellular membrane-bounded organelle	IDA
0016020	is_active_in membrane	IBA
0016020	located_in membrane	IDA
0016020	located_in membrane	NAS
0097730	located_in non-motile cilium	IDA
0005886	located_in plasma membrane	IDA
0005886	located_in plasma membrane	IMP
0043235	part_of receptor complex	ISS

Process (14)

Go ID	Value	Evidence
0070588	involved_in calcium ion transmembrane transport	IEA
0071468	involved_in cellular response to acidic pH	ISS
0001581	involved_in detection of chemical stimulus involved in sensory perception of sour taste	ISS
0050912	involved_in detection of chemical stimulus involved in sensory perception of taste	ISS
0050982	involved_in detection of mechanical stimulus	IBA
0098662	involved_in inorganic cation transmembrane transport	IDA
0006812	involved_in monoatomic cation transport	ISS
0071805	involved_in potassium ion transmembrane transport	IBA
0071805	involved_in potassium ion transmembrane transport	IDA
0051289	involved_in protein homotetramerization	IDA
0009415	involved_in response to water	IEA
0050915	involved_in sensory perception of sour taste	IMP
0007224	involved_in smoothened signaling pathway	ISS
0035725	involved_in sodium ion transmembrane transport	IDA

Gene Loss events - PKD2L1 (8 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_51XGVG	Delphinus capensis	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Delphinidae	10.1186/s12862-014-0218-8
GL_CIW4T1	Balaenoptera acutorostrata	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1186/s12862-014-0218-8
GL_HRAN19	Kogia sima	Artiodactyla	LOF (frameshift, premature stop, ss)	Full		10.1186/s12862-014-0218-8
GL_L7ZME7	Hippopotamus amphibius	Artiodactyla	LOF (frameshift, premature stop, ss)	Full		10.1186/s12862-014-0218-8
GL_NWWSUA	Neophocaena phocaenoides	Artiodactyla	LOF (frameshift, premature stop, ss)	Full		10.1186/s12862-014-0218-8
GL_PA1KU8	Sousa chinensis	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Delphinidae	10.1186/s12862-014-0218-8
GL_STQILW	Tursiops truncatus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Delphinidae	10.1186/s12862-014-0218-8
GL_VPJXNR	Lipotes vexillifer	Artiodactyla	LOF (frameshift, premature stop, ss)	Full		10.1186/s12862-014-0218-8