polycystin 2, transient receptor potential cation channel
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Diagnostic Grade (Green)
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDuctal plate malformation
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPolycystic liver disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRare multisystem ciliopathy disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRenal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownUnexplained kidney failure in young people
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+8 more panels — install the extension to see the full list inline on any page.
polycystic kidney disease 2
autosomal dominant polycystic kidney disease
cystic kidney disease
polycystic kidney disease
chronic kidney disease
kidney disorder
Genetic renal or urinary tract malformation
urinary system disorder
Abnormality of the urinary system
Meckel syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Polycystin-2
Forms a nonselective cation channel (PubMed:11854751, PubMed:11991947, PubMed:15692563, PubMed:26269590, PubMed:27071085, PubMed:31441214, PubMed:39009345). Can function as a homotetrameric ion channel or can form heteromer with PKD1 (PubMed:31441214, PubMed:33164752). Displays distinct function depending on its subcellular localization and regulation by its binding partners (PubMed:11854751, PubMed:11991947, PubMed:27214281, PubMed:29899465). In primary cilium functions as a cation channel, with a preference for monovalent cations over divalent cations that allows K(+), Na(+) and Ca(2+) influx, with low selectivity for Ca(2+) (PubMed:27071085). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). In the endoplasmic reticulum, likely functions as a K(+) channel to facilitate Ca(2+) release (By similarity). The heterotetrameric PKD1/PKD2 channel has higher Ca(2+) permeability than homomeric PKD2 channel and acts as a primarily Ca(2+)-permeable channel (PubMed:31441214). Interacts with and acts as a regulator of a number of other channels, such as TRPV4, TRPC1, IP3R, RYR2, ultimately further affecting intracellular signaling, to modulate intracellular Ca(2+) signaling (PubMed:11854751, PubMed:11991947, PubMed:27214281, PubMed:29899465). Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). In cardiomyocytes, PKD2 modulates Ca(2+) release from stimulated RYR2 receptors through direct association (By similarity). Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning (By similarity). Acts as a regulator of cilium length together with PKD1 (By similarity). Mediates systemic blood pressure and contributes to the myogenic response in cerebral arteries though vasoconstriction (By similarity)
Curated MONDO disease pages that list PKD2 among their top associated genes.
PKD2 · Q13563
Mean pLDDT
70.1/ 100
Confident
968 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
