• Gene id: 9033

Gene Summary

• Gene Symbol: PKD2L1   Gene   UCSC   Ensembl
• Aliases: PCL, PKD2L, PKDL, TRPP3
• Gene name: polycystin 2 like 1, transient receptor potential cation channel
• Alternate names: polycystic kidney disease 2-like 1 protein, polycystin-2 homolog, polycystin-2L1, polycystin-L, polycystin-L1, transient receptor potential cation channel, subfamily P, member 3,
• Gene location: 10q24.31 (100347029: 100288144)     Exons: 20     NC_000010.11
• Gene summary(Entrez): 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 pro
• OMIM: 604532

Protein Summary

• Protein general information: Q9P0L9  
  • Name: Polycystic kidney disease 2 like 1 protein (Polycystin 2 homolog) (Polycystin 2L1) (Polycystin L) (Polycystin L1)
  • Length: 805  
  • Mass: 91982
  • Tissue specificity: Detected in taste bud cells in fungiform papillae (at protein level) (PubMed
• Sequence:

  MNAVGSPEGQELQKLGSGAWDNPAYSGPPSPHGTLRVCTISSTGPLQPQPKKPEDEPQETAYRTQVSSCCLHICQ
  GIRGLWGTTLTENTAENRELYIKTTLRELLVYIVFLVDICLLTYGMTSSSAYYYTKVMSELFLHTPSDTGVSFQA
  ISSMADFWDFAQGPLLDSLYWTKWYNNQSLGHGSHSFIYYENMLLGVPRLRQLKVRNDSCVVHEDFREDILSCYD
  VYSPDKEEQLPFGPFNGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPGSRQGSAEALRALQEGLWLDRGTRV
  VFIDFSVYNANINLFCVLRLVVEFPATGGAIPSWQIRTVKLIRYVSNWDFFIVGCEVIFCVFIFYYVVEEILELH
  IHRLRYLSSIWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQQPNTYADFEFLAFWQTQYNNMNAVNLFFAW
  IKIFKYISFNKTMTQLSSTLARCAKDILGFAVMFFIVFFAYAQLGYLLFGTQVENFSTFIKCIFTQFRIILGDFD
  YNAIDNANRILGPAYFVTYVFFVFFVLLNMFLAIINDTYSEVKEELAGQKDELQLSDLLKQGYNKTLLRLRLRKE
  RVSDVQKVLQGGEQEIQFEDFTNTLRELGHAEHEITELTATFTKFDRDGNRILDEKEQEKMRQDLEEERVALNTE
  IEKLGRSIVSSPQGKSGPEAARAGGWVSGEEFYMLTRRVLQLETVLEGVVSQIDAVGSKLKMLERKGWLAPSPGV
  KEQAIWKHPQPAPAVTPDPWGVQGGQESEVPYKREEEALEERRLSRGEIPTLQRS

• Structural information:
  • Protein Domains: (633..66-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR013122  IPR003915  IPR027359  
  • PDB: 3TE3 4GIF 6DU8
  • PDBsum: 3TE3 4GIF 6DU8
  • STRING: ENSP00000325296
• Other Databases: GeneCards:  PKD2L1  Malacards:  PKD2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005262	calcium channel activity	IBA	molecular function
GO:0005272	sodium channel activity	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0050982	detection of mechanical stimulus	IBA	biological process
GO:0015269	calcium-activated potassium channel activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0005261	cation channel activity	IDA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0097730	non-motile cilium	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005262	calcium channel activity	IDA	molecular function
GO:0098662	inorganic cation transmembrane transport	IDA	biological process
GO:0034704	calcium channel complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0050912	detection of chemical stimulus involved in sensory perception of taste	ISS	biological process
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0050912	detection of chemical stimulus involved in sensory perception of taste	IEA	biological process
GO:0043235	receptor complex	IEA	cellular component
GO:0034703	cation channel complex	IEA	cellular component
GO:0009415	response to water	IEA	biological process
GO:0006812	cation transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005261	cation channel activity	IEA	molecular function
GO:0098662	inorganic cation transmembrane transport	IEA	biological process
GO:0071468	cellular response to acidic pH	IEA	biological process
GO:0071467	cellular response to pH	IEA	biological process
GO:0051262	protein tetramerization	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0034704	calcium channel complex	IEA	cellular component
GO:0033040	sour taste receptor activity	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0008324	cation transmembrane transporter activity	IEA	molecular function
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0001581	detection of chemical stimulus involved in sensory perception of sour taste	IEA	biological process
GO:0005227	calcium activated cation channel activity	IDA	molecular function
GO:0005227	calcium activated cation channel activity	IDA	molecular function
GO:0005261	cation channel activity	IDA	molecular function
GO:0005272	sodium channel activity	IDA	molecular function
GO:0005509	calcium ion binding	ISS	molecular function
GO:0051393	alpha-actinin binding	IPI	molecular function
GO:0015269	calcium-activated potassium channel activity	IDA	molecular function
GO:0043235	receptor complex	ISS	cellular component
GO:0008324	cation transmembrane transporter activity	ISS	contributes to
GO:0033040	sour taste receptor activity	ISS	contributes to
GO:0042802	identical protein binding	ISS	molecular function
GO:0051371	muscle alpha-actinin binding	IPI	molecular function
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0006812	cation transport	ISS	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0001581	detection of chemical stimulus involved in sensory perception of sour taste	ISS	biological process
GO:0005886	plasma membrane	IMP	cellular component
GO:0009986	cell surface	ISS	colocalizes with
GO:0016021	integral component of membrane	NAS	cellular component
GO:0071468	cellular response to acidic pH	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0050915	sensory perception of sour taste	IMP	biological process
GO:0008092	cytoskeletal protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04742	Taste transduction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq