PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel)

2014-11-01  

Identity

HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
PCL,PKD2L,PKDL,TRPP3

Other Information

Locus ID:

NCBI: 9033
MIM: 604532
HGNC: 9011
Ensembl: ENSG00000107593

Variants:

dbSNP: 9033
ClinVar: 9033
TCGA: ENSG00000107593
COSMIC: PKD2L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107593ENST00000318222Q9P0L9
ENSG00000107593ENST00000465680H0YDN7
ENSG00000107593ENST00000528248H0YET4
ENSG00000107593ENST00000532547E9PRD1

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
204068022010Activation of polycystic kidney disease-2-like 1 (PKD2L1)-PKD1L3 complex by acid in mouse taste cells.22
298994652018Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels.15
179448662007Direct binding of alpha-actinin enhances TRPP3 channel activity.14
119591452002The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation.13
295679622018Cryo-EM structure of the polycystic kidney disease-like channel PKD2L1.13
221744192012Receptor for activated C kinase 1 (RACK1) inhibits function of transient receptor potential (TRP)-type channel Pkd2L1 through physical interaction.12
300043842018Cryo-EM structure of the polycystin 2-l1 ion channel.12
221933592012Crystal structure and characterization of coiled-coil domain of the transient receptor potential channel PKD2L1.9
204088132010Identification of the structural motif responsible for trimeric assembly of the C-terminal regulatory domains of polycystin channels PKD2L1 and PKD2.7

Citation

Dessen P

PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71940/pkd2l1