GONUTS is under stress! The website is currently experiencing long-wait times and frequent time-outs due to the record number of students, groups, and annotations related to CACAO this semester. We are currently working on increasing performance -- please accept our apologies for the technical difficulties.
You can help reduce stress on the server by:
- not reloading pages frequently - this just adds
- opening links in new windows (so you can read the old page)
MGI:Pkd2
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Pkd2 ( synonyms: PC2, polycystin-2, TRPP2 ) | |
| Protein Name(s) | polycystic kidney disease 2, | |
| External Links | ||
| MGI | MGI:1099818 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001822 |
kidney development |
MGI:MGI:1351381 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1860866 |
P |
From MGI |
||
| GO:0001892 |
embryonic placenta development |
MGI:MGI:3612025 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1860840 |
P |
From MGI |
||
| GO:0001892 |
embryonic placenta development |
MGI:MGI:4836293 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0002133 |
polycystin complex |
MGI:MGI:2180983 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0003127 |
detection of nodal flow |
MGI:MGI:4946570 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0005102 |
receptor binding |
MGI:MGI:3708075 |
IPI: Inferred from Physical Interaction |
RefSeq:NP_076357 |
F |
From MGI |
||
| GO:0005102 |
receptor binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0005216 |
ion channel activity |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0407 |
F |
From MGI |
||
| GO:0005244 |
voltage-gated ion channel activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0005245 |
voltage-gated calcium channel activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0005248 |
voltage-gated sodium channel activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0005262 |
calcium channel activity |
MGI:MGI:2178492 |
TAS: Traceable Author Statement |
F |
From MGI |
|||
| GO:0005262 |
calcium channel activity |
MGI:MGI:2653432 |
IDA: Inferred from Direct Assay |
F |
From MGI |
|||
| GO:0005267 |
potassium channel activity |
MGI:MGI:2653432 |
IDA: Inferred from Direct Assay |
F |
From MGI |
|||
| GO:0005509 |
calcium ion binding |
MGI:MGI:5315681 |
IDA: Inferred from Direct Assay |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:1913173 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:2178492 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:2180983 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3528116 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:3826783 |
IPI: Inferred from Physical Interaction |
RefSeq:NP_694819 |
F |
From MGI |
||
| GO:0005515 |
protein binding |
MGI:MGI:3849381 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:4946570 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:5014446 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:4942265 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:1913173 |
TAS: Traceable Author Statement |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:2653432 |
IMP: Inferred from Mutant Phenotype |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:3611165 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005783 |
endoplasmic reticulum |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005789 |
endoplasmic reticulum membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005886 |
plasma membrane |
MGI:MGI:2653432 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005886 |
plasma membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005887 |
integral to plasma membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005929 |
cilium |
MGI:MGI:2449360 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005929 |
cilium |
MGI:MGI:2653432 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005929 |
cilium |
MGI:MGI:3609104 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005929 |
cilium |
MGI:MGI:3805610 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005929 |
cilium |
MGI:MGI:5315687 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005932 |
microtubule basal body |
MGI:MGI:3053250 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0006810 |
transport |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0813 |
P |
From MGI |
||
| GO:0006811 |
ion transport |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0406 |
P |
From MGI |
||
| GO:0006816 |
calcium ion transport |
MGI:MGI:2449360 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0006874 |
cellular calcium ion homeostasis |
MGI:MGI:2669058 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1860866 |
P |
From MGI |
||
| GO:0007050 |
cell cycle arrest |
MGI:MGI:2178492 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0007259 |
JAK-STAT cascade |
MGI:MGI:2178492 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0007368 |
determination of left/right symmetry |
MGI:MGI:2181535 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:2676373 |
P |
From MGI |
||
| GO:0007507 |
heart development |
MGI:MGI:1351381 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1860866 |
P |
From MGI |
||
| GO:0008092 |
cytoskeletal protein binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0009925 |
basal plasma membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0010628 |
positive regulation of gene expression |
MGI:MGI:4440396 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0015267 |
channel activity |
MGI:MGI:3826783 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1860840 |
F |
From MGI |
||
| GO:0016020 |
membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0472 |
C |
From MGI |
||
| GO:0016020 |
membrane |
MGI:MGI:2152098 |
IEA: Inferred from Electronic Annotation |
C |
From MGI |
|||
| GO:0016021 |
integral to membrane |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0812 |
C |
From MGI |
||
| GO:0022843 |
voltage-gated cation channel activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0030027 |
lamellipodium |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0030814 |
regulation of cAMP metabolic process |
MGI:MGI:3624212 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1860866 |
P |
From MGI |
||
| GO:0031512 |
motile primary cilium |
MGI:MGI:3582145 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0031513 |
nonmotile primary cilium |
MGI:MGI:2181537 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0031587 |
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0031659 |
positive regulation of cyclin-dependent protein kinase activity involved in G1/S |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0034220 |
ion transmembrane transport |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0407 |
P |
From MGI |
||
| GO:0035725 |
sodium ion transmembrane transport |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0042127 |
regulation of cell proliferation |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0042802 |
identical protein binding |
MGI:MGI:5315681 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0042803 |
protein homodimerization activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0042805 |
actinin binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0042994 |
cytoplasmic sequestering of transcription factor |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0042995 |
cell projection |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0966 |
C |
From MGI |
||
| GO:0043398 |
HLH domain binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0044325 |
ion channel binding |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0044441 |
cilium part |
MGI:MGI:4946570 |
IMP: Inferred from Mutant Phenotype |
C |
From MGI |
|||
| GO:0045180 |
basal cortex |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0045180 |
basal cortex |
MGI:MGI:4942265 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0045429 |
positive regulation of nitric oxide biosynthetic process |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0045429 |
positive regulation of nitric oxide biosynthetic process |
MGI:MGI:5315687 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0048763 |
calcium-induced calcium release activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
F |
From MGI |
|||
| GO:0050982 |
detection of mechanical stimulus |
MGI:MGI:2449360 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0051117 |
ATPase binding |
MGI:MGI:3778602 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0051209 |
release of sequestered calcium ion into cytosol |
MGI:MGI:3708075 |
IMP: Inferred from Mutant Phenotype |
MGI:MGI:1860866 |
P |
From MGI |
||
| GO:0051209 |
release of sequestered calcium ion into cytosol |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0051209 |
release of sequestered calcium ion into cytosol |
MGI:MGI:5315687 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0051925 |
regulation of calcium ion transport via voltage-gated calcium channel activity |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0060315 |
negative regulation of ryanodine-sensitive calcium-release channel activity |
MGI:MGI:3708075 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0060674 |
placenta blood vessel development |
MGI:MGI:4836293 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0061333 |
renal tubule morphogenesis |
MGI:MGI:4440396 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0061371 |
determination of heart left/right asymmetry |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0070588 |
calcium ion transmembrane transport |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0071158 |
positive regulation of cell cycle arrest |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0071458 |
integral to cytosolic side of endoplasmic reticulum membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0071464 |
cellular response to hydrostatic pressure |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0071470 |
cellular response to osmotic stress |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0071498 |
cellular response to fluid shear stress |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0071498 |
cellular response to fluid shear stress |
MGI:MGI:5315687 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0071556 |
integral to lumenal side of endoplasmic reticulum membrane |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0071805 |
potassium ion transmembrane transport |
MGI:MGI:2653432 |
IDA: Inferred from Direct Assay |
P |
From MGI |
|||
| GO:0072686 |
mitotic spindle |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0072686 |
mitotic spindle |
MGI:MGI:5315358 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0090279 |
regulation of calcium ion import |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:2000134 |
negative regulation of G1/S transition of mitotic cell cycle |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
|
colocalizes_with |
GO:0005911 |
cell-cell junction |
MGI:MGI:5315353 |
IDA: Inferred from Direct Assay |
C |
From MGI |
| |
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Wu G et al. (2000) Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat Genet 24: 75-8 PubMed GONUTS page
- ↑ Allen E et al. (2006) Loss of polycystin-1 or polycystin-2 results in dysregulated apolipoprotein expression in murine tissues via alterations in nuclear hormone receptors. Hum Mol Genet 15: 11-21 PubMed GONUTS page
- ↑ 3.0 3.1 Garcia-Gonzalez MA et al. (2010) Pkd1 and Pkd2 are required for normal placental development. PLoS One 5: PubMed GONUTS page
- ↑ 4.0 4.1 Newby LJ et al. (2002) Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J Biol Chem 277: 20763-73 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 Field S et al. (2011) Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2. Development 138: 1131-42 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 Anyatonwu GI et al. (2007) Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2. Proc Natl Acad Sci U S A 104: 6454-9 PubMed GONUTS page
- ↑ 7.0 7.1 7.2 7.3 Bhunia AK et al. (2002) PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell 109: 157-68 PubMed GONUTS page
- ↑ 8.0 8.1 8.2 8.3 8.4 8.5 Luo Y et al. (2003) Native polycystin 2 functions as a plasma membrane Ca2+-permeable cation channel in renal epithelia. Mol Cell Biol 23: 2600-7 PubMed GONUTS page
- ↑ 9.0 9.1 Molland KL et al. (2010) Identification of the structural motif responsible for trimeric assembly of the C-terminal regulatory domains of polycystin channels PKD2L1 and PKD2. Biochem J 429: 171-83 PubMed GONUTS page
- ↑ 10.0 10.1 Lehtonen S et al. (2000) In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. J Biol Chem 275: 32888-93 PubMed GONUTS page
- ↑ Rezaie T & Sarfarazi M (2005) Molecular cloning, genomic structure, and protein characterization of mouse optineurin. Genomics 85: 131-8 PubMed GONUTS page
- ↑ 12.0 12.1 Kim I et al. (2008) Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol 19: 455-68 PubMed GONUTS page
- ↑ Sohara E et al. (2008) Nek8 regulates the expression and localization of polycystin-1 and polycystin-2. J Am Soc Nephrol 19: 469-76 PubMed GONUTS page
- ↑ Choi YH et al. (2011) Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases. Proc Natl Acad Sci U S A 108: 10679-84 PubMed GONUTS page
- ↑ 15.0 15.1 Foggensteiner L et al. (2000) Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. J Am Soc Nephrol 11: 814-27 PubMed GONUTS page
- ↑ Hackmann K et al. (2005) A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. Hum Mol Genet 14: 3249-62 PubMed GONUTS page
- ↑ 17.0 17.1 17.2 Nauli SM et al. (2003) Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 33: 129-37 PubMed GONUTS page
- ↑ Karcher C et al. (2005) Lack of a laterality phenotype in Pkd1 knock-out embryos correlates with absence of polycystin-1 in nodal cilia. Differentiation 73: 425-32 PubMed GONUTS page
- ↑ Li X et al. (2008) A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease. Nat Med 14: 863-8 PubMed GONUTS page
- ↑ 20.0 20.1 20.2 20.3 AbouAlaiwi WA et al. (2009) Ciliary polycystin-2 is a mechanosensitive calcium channel involved in nitric oxide signaling cascades. Circ Res 104: 860-9 PubMed GONUTS page
- ↑ Jurczyk A et al. (2004) Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. J Cell Biol 166: 637-43 PubMed GONUTS page
- ↑ Qian Q et al. (2003) Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. Hum Mol Genet 12: 1875-80 PubMed GONUTS page
- ↑ Pennekamp P et al. (2002) The ion channel polycystin-2 is required for left-right axis determination in mice. Curr Biol 12: 938-43 PubMed GONUTS page
- ↑ 24.0 24.1 Xia S et al. (2010) Polycystin-dependent fluid flow sensing targets histone deacetylase 5 to prevent the development of renal cysts. Development 137: 1075-84 PubMed GONUTS page
- ↑ Kip SN et al. (2005) [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype. Circ Res 96: 873-80 PubMed GONUTS page
- ↑ Teilmann SC et al. (2005) Localization of transient receptor potential ion channels in primary and motile cilia of the female murine reproductive organs. Mol Reprod Dev 71: 444-52 PubMed GONUTS page
- ↑ Pazour GJ et al. (2002) Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease. Curr Biol 12: R378-80 PubMed GONUTS page
- ↑ Liang G et al. (2008) Polycystin-2 is regulated by endoplasmic reticulum-associated degradation. Hum Mol Genet 17: 1109-19 PubMed GONUTS page
- ↑ Rundle DR et al. (2004) PKD2 interacts and co-localizes with mDia1 to mitotic spindles of dividing cells: role of mDia1 IN PKD2 localization to mitotic spindles. J Biol Chem 279: 29728-39 PubMed GONUTS page
- ↑ Li Q et al. (2005) Alpha-actinin associates with polycystin-2 and regulates its channel activity. Hum Mol Genet 14: 1587-603 PubMed GONUTS page
