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This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2 include Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is PKD2L1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IEA,IPI | 16223735 |
GO:0005244 | voltage-gated ion channel activity | IDA | 11854751 |
GO:0005245 | voltage-gated calcium channel activity | IDA | 11252306 |
GO:0005248 | voltage-gated sodium channel activity | IDA,IMP | 27071085 |
GO:0005249 | voltage-gated potassium channel activity | IMP | 27071085 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002133 | polycystin complex | IEA,ISS | -- |
GO:0005737 | cytoplasm | IEA,IMP | 16311606 |
GO:0005783 | endoplasmic reticulum | IDA,IMP | 16223735 |
GO:0005789 | endoplasmic reticulum membrane | IDA | 11854751 |
GO:0005794 | Golgi apparatus | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cargo trafficking to the periciliary membrane | ||
2 | Organelle biogenesis and maintenance |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001658 | branching involved in ureteric bud morphogenesis | IEP | 11891195 |
GO:0001822 | kidney development | IEA | -- |
GO:0001889 | liver development | IEA,IEP | 11891195 |
GO:0001892 | embryonic placenta development | IEA,ISS | -- |
GO:0001947 | heart looping | IMP | 21719175 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Amiloride | Approved | Pharma | Channel blocker, blocker | 61 | ||
Allopurinol | Approved | Pharma | 182 | |||
Cd<sup>2+</sup> | Pharma | Pore Blocker | 0 | |||
Gd<sup>3+</sup> | Pharma | Channel blocker, Pore Blocker | 0 | |||
La<sup>3+</sup> | Pharma | Channel blocker, Pore Blocker | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Ca<sub>i</sub><sup>2+</sup> |
|
Activator |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PKD2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PKD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PKD2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pkd2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pkd2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PKD2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PKD2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PKD2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PKD2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pkd2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pkd2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7125 32 |
|
|
|
Pkd2 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | pkd-2 30 31 32 |
|
OneToMany | |
W09C5.5 32 |
|
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
836727 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,075,624(+) |
C/T NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
837907 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,058,072(+) |
C/T NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) |
MISSENSE | |
838482 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,008,287(+) |
C/G NM_000297.4(PKD2):c.554C>G (p.Pro185Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
838483 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,008,328(+) |
G/A NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
849237 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,008,108(+) |
G/GGCCGCCTCCTCGG
NM_000297.4(PKD2):c.377_400dup (p.Ala126_Ser133dup) |
NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv9154n54 | CNV | gain | 21841781 |
dgv9155n54 | CNV | loss | 21841781 |
esv25882 | CNV | loss | 19812545 |
esv2658797 | CNV | deletion | 23128226 |
esv2665331 | CNV | deletion | 23128226 |
esv2668876 | CNV | deletion | 23128226 |
esv2759266 | CNV | gain | 17122850 |
esv3601294 | CNV | loss | 21293372 |
esv3601295 | CNV | loss | 21293372 |
nsv594797 | CNV | gain | 21841781 |
nsv594800 | CNV | gain+loss | 21841781 |
nsv594801 | CNV | gain | 21841781 |
nsv594804 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polycystic kidney disease 2 with or without polycystic liver disease |
|
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autosomal dominant polycystic kidney disease |
|
|
polycystic kidney disease 1 with or without polycystic liver disease |
|
|
multicystic dysplastic kidney |
|
|
polycystic kidney disease |
|
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