Gene
pkd2
- ID
- ZDB-GENE-040827-4
- Name
- polycystic kidney disease 2
- Symbol
- pkd2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including calcium ion binding activity; monoatomic cation channel activity; and muscle alpha-actinin binding activity. Involved in heart development and positive regulation of sequestering of calcium ion. Acts upstream of or within with a positive effect on cilium assembly. Acts upstream of or within several processes, including Kupffer's vesicle development; circulatory system development; and kidney development. Located in basolateral plasma membrane; cilium; and endoplasmic reticulum. Is expressed in several structures, including germ ring; heart; nervous system; pleuroperitoneal region; and tail bud. Used to study autosomal dominant polycystic kidney disease; ciliopathy; and polycystic kidney disease. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; polycystic kidney disease; polycystic kidney disease 2; and retinal degeneration. Orthologous to human PKD2 (polycystin 2, transient receptor potential cation channel).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 27 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 104 figures from 48 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi4166Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| hu2173 | Allele with one point mutation | Unknown | Unknown | ENU | |
| ouc2015 | Allele with one delins | Unknown | Unknown | CRISPR | |
| sa18074 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18283 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38295 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| tc321 | Allele with one point mutation | Unknown | Unknown | ENU | |
| tg226d | unknown | Unknown | Unknown | not specified | |
| tp85a | unknown | Unknown | Unknown | ENU | |
| ty30 | unknown | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pkd2 | Shah et al., 2015 | |
| CRISPR2-pkd2 | Liu et al., 2019 | |
| CRISPR3-pkd2 | Gaillard et al., 2023 | |
| CRISPR4-pkd2 | Gaillard et al., 2023 | |
| CRISPR5-pkd2 | Liu et al., 2022 | |
| CRISPR6-pkd2 | (2) | |
| MO1-pkd2 | N/A | Bisgrove et al., 2005 |
| MO2-pkd2 | N/A | Bisgrove et al., 2005 |
| MO3-pkd2 | N/A | (43) |
| MO4-pkd2 | N/A | (5) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| polycystic kidney disease 2 | Alliance | Polycystic kidney disease 2 | 613095 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-hand domain | EF-hand domain pair | Polycystic kidney disease type 2 protein | Polycystin | Polycystin cation channel, PKD1/PKD2 | Polycystin domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6IVV8 | InterPro | 904 | ||||||
| UniProtKB:A0A8M6YVJ7 | InterPro | 903 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-192D9 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002310 (1) | 3362 nt | ||
| Genomic | GenBank:CR788312 (1) | 177966 nt | ||
| Polypeptide | UniProtKB:Q6IVV8 (1) | 904 aa |
- Bu, L.K., Jia, P.P., Li, W.G., Li, Y.Z., Li, T.Y., Pei, D.S. (2023) Probiotics mitigate kidney damage after exposure to Sri Lanka's local groundwater from chronic kidney disease with uncertain etiology (CKDu) prevalent area in zebrafish. Aquatic toxicology (Amsterdam, Netherlands). 262:106671106671
- Djenoune, L., Mahamdeh, M., Truong, T.V., Nguyen, C.T., Fraser, S.E., Brueckner, M., Howard, J., Yuan, S. (2023) Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry. Science (New York, N.Y.). 379:717871-78
- Gaillard, A.L., Mohamad, T., Quan, F.B., de Cian, A., Mosimann, C., Tostivint, H., Pézeron, G. (2023) Urp1 and Urp2 act redundantly to maintain spine shape in zebrafish larvae. Developmental Biology. 496:36-51
- Juan, T., Ribeiro da Silva, A., Cardoso, B., Lim, S., Charteau, V., Stainier, D.Y.R. (2023) Multiple pkd and piezo gene family members are required for atrioventricular valve formation. Nature communications. 14:214214
- Liu, X., Zhang, R., Fatehi, M., Wang, Y., Long, W., Tian, R., Deng, X., Weng, Z., Xu, Q., Light, P.E., Tang, J., Chen, X.Z. (2022) Regulation of the PKD2 channel function by TACAN. The Journal of physiology. 601(1):83-98
- Padhy, B., Xie, J., Wang, R., Lin, F., Huang, C.L. (2022) Channel Function of Polycystin-2 in the Endoplasmic Reticulum Protects against Autosomal Dominant Polycystic Kidney Disease. Journal of the American Society of Nephrology : JASN. 33(8):1501-1516
- Vignes, H., Vagena-Pantoula, C., Prakash, M., Fukui, H., Norden, C., Mochizuki, N., Jug, F., Vermot, J. (2022) Extracellular mechanical forces drive endocardial cell volume decrease during zebrafish cardiac valve morphogenesis. Developmental Cell. 57(5):598-609.e5
- Chen, S., Huang, L., Zhou, S., Zhang, Q., Ruan, M., Fu, L., Yang, B., Xu, D., Mei, C., Mao, Z. (2021) NS398 as a potential drug for autosomal-dominant polycystic kidney disease: Analysis using bioinformatics, and zebrafish and mouse models. Journal of Cellular and Molecular Medicine. 25(20):9597-9608
- Derrick, C.J., Sánchez-Posada, J., Hussein, F., Tessadori, F., Pollitt, E.J.G., Savage, A.M., Wilkinson, R.N., Chico, T.J., van Eeden, F.J., Bakkers, J., Noël, E.S. (2021) Asymmetric Hapln1a drives regionalised cardiac ECM expansion and promotes heart morphogenesis in zebrafish development. Cardiovascular research. 118(1):226-240
- Fukui, H., Chow, R.W., Xie, J., Foo, Y.Y., Yap, C.H., Minc, N., Mochizuki, N., Vermot, J. (2021) Bioelectric signaling and the control of cardiac cell identity in response to mechanical forces. Science (New York, N.Y.). 374:351-354
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