pkd-2 encodes a TRPP cation channel orthologous to human PKD2; pkd-2 is required for two aspects of male mating behavior: response to hermaphrodite contact and vulva location and acts with lov-1; PKD-2 is expressed in the cilia of three types of male-specific sensory neurons; EGL-44 and EGL-46 regulate cell-specific expression of lov-1 and pkd-2 to specify the behavioral function of the HOB neuron.
Enables calcium channel activity. Involved in calcium ion transport; response to hermaphrodite contact; and vulval location. Located in several cellular components, including neuronal cell body; perinuclear region of cytoplasm; and plasma membrane bounded cell projection. Expressed in CEM; nerve ring; neurons; and ray. Used to study autosomal dominant polycystic kidney disease. Human ortholog(s) of this gene implicated in intracranial aneurysm; polycystic kidney disease 2; and retinal degeneration. Is an ortholog of human PKD2 (polycystin 2, transient receptor potential cation channel) and PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel).
Inferred by orthology to human genes with DO annotation (HGNC:9009)
Disease_relevance
lov-1 and pkd-2 encode the orthologs of human Polycystin-1 and Polycystin-2, which are mutated in autosomal dominant polycystic kidney disease; the polycystins regulate signaling involved in normal renal tubular structure and function; studies in the worm C. elegans have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; in elegans lov-1 and pkd-2 are expressed in male ciliary neurons, are required for normal male mating behavior, do not seem to be required for ciliogenesis, and each polycystin may actually have a potential inhibitory function on the other for ciliary function; lov-1 and pkd-1 interact with a single-pass transmembrane protein, CWP-5, though the significance of this interaction for polycystic kidney disease is unknown.
The use of the name pdk-2 for this gene was due to a typo in the original paper [krb 020128]
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.
CGC_data_submission
[140923 pad] Modified Map position as it was a reverse physical that could not be fixed by automated methods.