Gene table of PKD2 : polycystin 2, transient receptor potential cation channel

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PKD2	OMIM link	Number of associated genes	genes
613095	POLYCYSTIC KIDNEY DISEASE 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PKD2

Download the gene annotation in CSV format

Annotation of the gene PKD2

Associated genes in ENSEMBL

ENSG00000118762

Associated proteins - SwissProt Accession ID

Q13563

Associated PDB IDs

Cytogenetic Band

4q22.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cargo trafficking to the periciliary membrane	R-HSA-5620920	7.31
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Assembly of the primary cilium	R-HSA-5617833	5.44
VxPx cargo-targeting to cilium	R-HSA-5620916	8.59

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
substrate-specific channel activity	GO:0022838	3.67
signaling receptor activity	GO:0038023	2.49
calcium channel activity	GO:0005262	5.03
ligand-gated calcium channel activity	GO:0099604	6.97
enzyme binding	GO:0019899	2.27
ligand-gated ion channel activity	GO:0015276	4.8
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
ion channel binding	GO:0044325	5.02
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1905030	6.74
calcium ion transmembrane transporter activity	GO:0015085	4.89
calcium-release channel activity	GO:0015278	6.97
voltage-gated calcium channel activity	GO:0005245	6.0
sodium ion transmembrane transporter activity	GO:0015081	4.83
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
ion binding	GO:0043167	1.36
transmembrane transporter activity	GO:0022857	2.82
calcium ion binding	GO:0005509	3.17
transporter activity	GO:0005215	2.57
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
voltage-gated cation channel activity	GO:0022843	4.83
calcium-induced calcium release activity	GO:0048763	9.05
alpha-actinin binding	GO:0051393	6.6
sodium channel activity	GO:0005272	6.13
cation binding	GO:0043169	1.4
ATPase binding	GO:0051117	5.41
ion channel activity	GO:0005216	3.71
ligand-gated channel activity	GO:0022834	4.8
protein homodimerization activity	GO:0042803	3.16
protein domain specific binding	GO:0019904	3.32
actinin binding	GO:0042805	6.3
cation transmembrane transporter activity	GO:0008324	3.32
protein dimerization activity	GO:0046983	2.72
HLH domain binding	GO:0043398	8.64
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
cytoskeletal protein binding	GO:0008092	3.02
intracellular ligand-gated ion channel activity	GO:0005217	6.41
muscle alpha-actinin binding	GO:0051371	7.54
phosphoprotein binding	GO:0051219	5.64
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
voltage-gated sodium channel activity	GO:0005248	6.74
receptor binding	GO:0005102	2.43
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32