Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9033
Gene name	Polycystin 2 like 1, transient receptor potential cation channel
Gene symbol	PKD2L1
Synonyms (NCBI Gene)	PCLPKD2LPKDLTRPP3
Chromosome	10
Chromosome location	10q24.31
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 pro

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018375	hsa-miR-335-5p	Microarray	18185580
MIRT2069850	hsa-miR-1827	CLIP-seq
MIRT2069851	hsa-miR-1976	CLIP-seq
MIRT2069852	hsa-miR-3612	CLIP-seq
MIRT2069853	hsa-miR-4459	CLIP-seq
MIRT2069854	hsa-miR-4695-5p	CLIP-seq
MIRT2069855	hsa-miR-650	CLIP-seq
MIRT2069851	hsa-miR-1976	CLIP-seq
MIRT2069850	hsa-miR-1827	CLIP-seq
MIRT2456566	hsa-miR-3180-5p	CLIP-seq
MIRT2069852	hsa-miR-3612	CLIP-seq
MIRT2456567	hsa-miR-3619-3p	CLIP-seq
MIRT2456568	hsa-miR-4276	CLIP-seq
MIRT2069853	hsa-miR-4459	CLIP-seq
MIRT2069854	hsa-miR-4695-5p	CLIP-seq
MIRT2456569	hsa-miR-4776-5p	CLIP-seq
MIRT2456570	hsa-miR-4800-5p	CLIP-seq
MIRT2069855	hsa-miR-650	CLIP-seq
MIRT2456571	hsa-miR-665	CLIP-seq

Show/Hide all (85)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001581	Process	Detection of chemical stimulus involved in sensory perception of sour taste	IEA
GO:0001581	Process	Detection of chemical stimulus involved in sensory perception of sour taste	ISS
GO:0005227	Function	Calcium-activated cation channel activity	IDA	10517637, 11959145, 24336289, 25820328, 27754867, 29425510
GO:0005261	Function	Monoatomic cation channel activity	IDA	17944866, 30004384
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005272	Function	Sodium channel activity	IBA
GO:0005272	Function	Sodium channel activity	IDA	10517637
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	22193359
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	12525172, 23212381, 24336289, 25910212
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	23212381, 27754867
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	17944866
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006812	Process	Monoatomic cation transport	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0008092	Function	Cytoskeletal protein binding	IPI	12809519
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	IEA
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	ISS
GO:0009415	Process	Response to water	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0015269	Function	Calcium-activated potassium channel activity	IBA
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	10517637
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	19812697
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9748274, 9878261
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033040	Function	Sour taste receptor activity	IEA
GO:0033040	Function	Sour taste receptor activity	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IEA
GO:0034704	Component	Calcium channel complex	IDA	24336289
GO:0034704	Component	Calcium channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	10517637
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0042805	Function	Actinin binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IEA
GO:0043235	Component	Receptor complex	ISS
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0050912	Process	Detection of chemical stimulus involved in sensory perception of taste	IEA
GO:0050912	Process	Detection of chemical stimulus involved in sensory perception of taste	ISS
GO:0050915	Process	Sensory perception of sour taste	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0051262	Process	Protein tetramerization	IEA
GO:0051289	Process	Protein homotetramerization	IDA	30004384
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IBA
GO:0051371	Function	Muscle alpha-actinin binding	IPI	17944866
GO:0051393	Function	Alpha-actinin binding	IPI	17944866
GO:0060170	Component	Ciliary membrane	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071467	Process	Cellular response to pH	IEA
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0071468	Process	Cellular response to acidic pH	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	10517637
GO:0097730	Component	Non-motile cilium	IDA	24336289
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	23212381
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	30004384
GO:0098662	Process	Inorganic cation transmembrane transport	IEA
GO:0160128	Function	PH-gated monoatomic ion channel activity	IDA	23212381
GO:0160128	Function	PH-gated monoatomic ion channel activity	IEA
GO:0160128	Function	PH-gated monoatomic ion channel activity	ISS
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	IEA

MIM	HGNC	e!Ensembl
604532	9011	ENSG00000107593

Q9P0L9

Protein name

Polycystin-2-like protein 1 (Polycystin-2L1) (Polycystic kidney disease 2-like 1 protein) (Polycystin-2 homolog) (Polycystin-L) (Polycystin-L1)

Protein function

Homotetrameric, non-selective cation channel that is permeable to sodium, potassium, magnesium and calcium (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:30004384). Also forms functionnal heteromeric

PDB

3TE3 , 4GIF , 6DU8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08016	PKD_channel	145 → 567	Polycystin cation channel	Family
PF18109	Fer4_24	702 → 736		Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in taste bud cells in fungiform papillae (at protein level) (PubMed:19812697). Ubiquitous (PubMed:9748274). Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver (PubMed:9748274, PubMed:9878261). I

Sequence

MNAVGSPEGQELQKLGSGAWDNPAYSGPPSPHGTLRVCTISSTGPLQPQPKKPEDEPQET
AYRTQVSSCCLHICQGIRGLWGTTLTENTAENRELYIKTTLRELLVYIVFLVDICLLTYG
MTSSSAYYYTKVMSELFLHTPSDTGVSFQAISSMADFWDFAQGPLLDSLYWTKWYNNQSL
GHGSHSFIYYENMLLGVPRLRQLKVRNDSCVVHEDFREDILSCYDVYSPDKEEQLPFGPF
NGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPGSRQGSAEALRALQEGLWLDRGTRV
VFIDFSVYNANINLFCVLRLVVEFPATGGAIPSWQIRTVKLIRYVSNWDFFIVGCEVIFC
VFIFYYVVEEILELHIHRLRYLSSIWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQ
QPNTYADFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGF
AVMFFIVFFAYAQLGYLLFGTQVENFSTFIKCIFTQFRIILGDFDYNAIDNANRILGPAY
FVTYVFFVFFVLLNMFLAIINDTYSEVKEELAGQKDELQLSDLLKQGYNKTLLRLRLRKE
RVSDVQKVLQGGEQEIQFEDFTNTLRELGHAEHEITELTATFTKFDRDGNRILDEKEQEK
MRQDLEEERVALNTEIEKLGRSIVSSPQGKSGPEAARAGGWVSGEEFYMLTRRVLQLETV
LEGVVSQIDAVGSKLKMLERKGWLAPSPGVKEQAIWKHPQPAPAVTPDPWGVQGGQESEV
PYKREEEALEERRLSRGEIPTLQRS

Sequence length

805

Interactions

View interactions

	KEGG
	Taste transduction

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Prostate cancer	Uncertain significance	rs193920845	RCV000149235

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Coronary Artery Disease	Associate	35796550
Diabetes Mellitus Type 1	Associate	32425885
Diabetic Nephropathies	Associate	32425885
Osteoporosis	Associate	37831088
Polycystic Kidney Autosomal Dominant	Associate	28154010
Polycystic Kidney Diseases	Associate	19812697, 28154010
Systemic carnitine deficiency	Associate	34699533

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