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TRPP1

Family: Transient Receptor Potential channels

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Associated Proteins
Ion Selectivity and Conductance
Voltage Dependence
Activators
Pore Blockers
Tissue Distribution
Functional Assays
Physiological Consequences of Altering Gene Expression
Phenotypes, Alleles and Disease Models
Clinically-Relevant Mutations and Pathophysiology
References
Gene and Protein Information
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 6 1 968 4q21-23 PKD2 polycystic kidney disease 2 (autosomal dominant) 12
Mouse 6 1 966 5 E5 Pkd2 polycystic kidney disease 2 17,27
Rat 6 1 915 14q22 Pkd2 polycystic kidney disease 2 homolog (human)
Previous and Unofficial Names
APKD2
PC2
PKD2
polycystin 2
TRPP2
polycystic kidney disease 2
PKD4
Pc-2
transient receptor potential cation channel, subfamily P, member 2
LOC498328
Pkd2_predicted
RGD1559992
RGD1559992_predicted
polycystic kidney disease 2
polycystic kidney disease 2 (predicted)
polycystic kidney disease 2 homolog (human)
polycystin-2
similar to polycystic kidney disease 2
similar to polycystic kidney disease 2 (predicted)
C030034P18Rik
Database Links
ChEMBL Target 100991 (Hs)
Ensembl ENSG00000118762 (Hs), ENSMUSG00000034462 (Mm), ENSRNOG00000002146 (Rn)
Entrez Gene 5133 (Hs), 18764 (Mm), 353503 (Rn)
GeneCards PKD2 (Hs)
GenitoUrinary Development Molecular Anatomy Project Pkd2 (Mm)
HomoloGene 20104 (Hs)
Human Protein Reference Database 02590 (Hs)
InterPro Q13563 (Hs), O35245 (Mm)
KEGG Gene hsa:5133 (Hs), mmu:18764 (Mm), rno:353503 (Rn)
OMIM 173910 (Hs)
Orphanet Gene ORPHA117849 (Hs)
PharmGKB Gene PA33110 (Hs)
PhosphoSitePlus Q15116 (Hs), O35245 (Mm)
Protein Ontology (PRO) PRO:000012773 (Hs)
RefSeq Nucleotide NM_000297 (Hs), NM_008861 (Mm), NM_001191934 (Rn)
RefSeq Protein NP_000288 (Hs), NP_032887 (Mm), NP_001178863 (Rn)
TreeFam ENSG00000118762 (Hs), ENSMUSG00000034462 (Mm), ENSRNOG00000002146 (Rn)
UniGene Hs. 181272 (Hs)
UniProt Q13563 (Hs), O35245 (Mm)
Wikipedia TRPP1
Transient Receptor Potential channels
Search for 3D structures on the PDB
Search by keyword: Transient Receptor Potential channels TRPP1 Search by accession number: O35245, Q13563
Associated Proteins
Heteromeric Pore-forming Subunits
Name References
TRPC1 22
Auxiliary Subunits
Name References
PKD1 (Polycystin-1) 4,18,23
Other Associated Proteins
Name References
Id2 9
IP3 receptor type I 10
mDia1 21
Hax-1 2
α-actinin 7
Troponin-I 8
Tropomyosin-1 6
Associated Protein Comments
PKD1 activates the JAK-STAT pathway, upregulating p21 (waf1) to arrest the cell cycle. Mutations disrupting the interaction between TRPP1 and PKD1 prevent the activation of this pathway and could explain why disruption of either gene leads to abnormal growth [1].
Ion Selectivity and Conductance
Species:  Human
Rank order:  K+ [157.0 pS]
References:  3
Species:  Mouse
Rank order:  K+ [116.2 pS] > Rb+ [67.1 pS] > Ba2+ [46.2 pS] > Ca2+ [37.8 pS] > Na+ [23.6 pS]
References:  11
Voltage Dependence
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -50.0 - 16 HEK 293 cells. Human
Inactivation  - -
Voltage Dependence Comments
There are few reports of current recorded from cells heterologously expressing TRPP1 alone, or in combination with PKD1. The electrophysiological properties of TRPP1 are not well established and there is disagreement as to whether measured current represent TRPP2. There are also reports that the protien is restricted to cilia in primary cells [16] and to intracellualr membranes [11] , where electrophysiological properties cannot be measured in situ with current techniques. Thus there is uncertainty about the above properties if the putative channel. If the currents do represent TRPP1, it is weakly voltage-sensitive.
Activators (Human)
Constitutive activity, suppressed by co-expression of TRPP1
Activators
Key to terms and symbols Click column headers to sort
Ligand Sp. Affinity Units Concentration range (M) Holding voltage (mV) Reference
Cai2+ Hs 6.0 pEC50 1x10-7 - 1x10-3 -5.0 5
Activator Comments
Activity of TRPP1 is also affected by pH in a manner that indicates the presence of an H+ ion regulatory site on the cytoplasmic side of the protein [3]
Pore Blockers
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Affinity Units Concentration range (M) Holding voltage (mV) Reference
Gd3+ Hs - - 1x10-3 0.0 16
La3+ Hs - - 1x10-3 0.0 16
Cd2+ Hs - - 1x10-4 0.0 16
Ni2+ Hs - - 1x10-4 0.0 16
SKF96365 Hs - - 1x10-4 0.0 16
Pore Blocker Comments
The TRPP1 current has not been uniquely identified therefore the channel blockers are putative.
Tissue Distribution
Widely distributed. High in kidney, testis, ovary, intestine and lung.
Species:  Human
Technique:  Northern Blot
References:  12
Widely Expressed. Kidney>lung, brain, heart, liver, testis, muscle.
Species:  Mouse
Technique:  Northern Blot
References:  27
E12.5 mesenchymally derived structures (nasal cavity>otic capsule and tooth gum precursors>invertebral discs, lung, stomach)
Species:  Mouse
Technique:  In situ hybridisation
References:  17
Kidney, salivary gland, adrenal gland, blood vessels, cornea, ovary.
Species:  Rat
Technique:  Immunohistochemistry
References:  13
Functional Assay Comments
No functional assays are available as there is no definitive demonstration that the currents described so far are via the TRPP1 channel pore, nor are there molcules that specifically activate or block TRPP1.
Physiological Consequences of Altering Gene Expression
Heterozygotes: Cyst formation in kidney and liver, intracranial vascular abnormalities following sugically-induced hypertension.
Homozygotes: Embryonic lethality due to abnormal cardiac developement, cyst formation in kidney and pancreas.
Species:  Mouse
Tissue:  Various
Technique:  TRPP1 receptor knockout
References:  19,25-26
Physiological Consequences of Altering Gene Expression Comments
It is proposed that the cyst formation in heterozygotes requires a "two-hit" mechanism, where the germ-line mutation is followed by a somatic mutation leading to local homozygousity and cyst formation [26]. Increased severity of cyst formation can be seen in mice heterozygous for mutations in both TRPP1 and PKD1 [28].
Phenotypes, Alleles and Disease Models Mouse data from MGI

Click here to show/hide data

Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Pkd2lrm4 Pkd2lrm4/Pkd2lrm4
involves: BALB/cAnN * C3H/HeH		 MGI:1099818  MP:0003283 abnormal digestive organ placement PMID: 19235720 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0004190 abnormal direction of embryo turning PMID: 12062060 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0000267 abnormal heart development PMID: 12062060 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0001706 abnormal left-right axis patterning PMID: 12062060 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0000596 abnormal liver development PMID: 12062060 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0000598 abnormal liver morphology PMID: 18782757 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0000269 abnormal looping morphogenesis PMID: 12062060 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0001176 abnormal lung development PMID: 12062060 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0003881 abnormal nephron morphology PMID: 18782757 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0001944 abnormal pancreas morphology PMID: 12062060 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0008803 abnormal placental labyrinth vasculature morphology PMID: 16301212 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0004066 abnormal primitive node morphology PMID: 12859898 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0000690 absent spleen PMID: 12062060 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0010403 atrial septal defect PMID: 10615132 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0010412 atrioventricular septal defect PMID: 10615132 
Pkd2tm1Som|Pkd2tm2Som Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003255 bile duct proliferation PMID: 9568711 
Pkd2lrm4 Pkd2lrm4/Pkd2lrm4
involves: BALB/cAnN * C3H/HeH		 MGI:1099818  MP:0000644 dextrocardia PMID: 19235720 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0003253 dilated bile duct PMID: 18782757 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0009144 dilated pancreatic duct PMID: 18782757 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0009050 dilated proximal convoluted tubules PMID: 18782757 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0002705 dilated renal tubules PMID: 18782757 
Pkd2+|Pkd2tm2Som|Pkhd1tm1Gwu Pkd2tm2Som/Pkd2+,Pkhd1tm1Gwu/Pkhd1tm1Gwu
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MGI:2155808  MP:0002705 dilated renal tubules PMID: 18235088 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0001785 edema PMID: 10615132 
Pkd2lrm4 Pkd2lrm4/Pkd2lrm4
involves: BALB/cAnN * C3H/HeH		 MGI:1099818  MP:0001785 edema PMID: 19235720 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0006207 embryonic lethality during organogenesis PMID: 12062060 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0001914 hemorrhage PMID: 10615132 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0001914 hemorrhage PMID: 12062060 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0002192 hydrops fetalis PMID: 12062060 
Pkd2tm1Som|Pkd2tm2Som Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0005565 increased blood urea nitrogen level PMID: 10615132 
Pkd2tm1Som Pkd2tm1Som/Pkd2tm1Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0000522 kidney cortex cysts PMID: 9568711 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0000522 kidney cortex cysts PMID: 12062060 
Pkd2tm1Som Pkd2tm1Som/Pkd2tm1Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003675 kidney cysts PMID: 9568711 
Pkd2+|Pkd2tm1Som Pkd2tm1Som/Pkd2+
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003675 kidney cysts PMID: 9568711 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003675 kidney cysts PMID: 10615132 
Pkd2+|Pkd2tm2Som Pkd2tm2Som/Pkd2+
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003675 kidney cysts PMID: 10615132  9568711 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0003675 kidney cysts PMID: 12062060 
Pkd2tm1Som|Pkd2tm2Som Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003675 kidney cysts PMID: 10615132  9568711 
Pkd1+|Pkd1tm1Som|Pkd2+|Pkd2tm2Som Pkd1tm1Som/Pkd1+,Pkd2tm2Som/Pkd2+
involves: 129/Sv * C57BL/6 * SJL		 MGI:1099818  MGI:97603  MP:0003675 kidney cysts PMID: 12140187 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0003675 kidney cysts PMID: 18782757 
Pkd2+|Pkd2tm2Som|Pkhd1tm1Gwu Pkd2tm2Som/Pkd2+,Pkhd1tm1Gwu/Pkhd1tm1Gwu
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MGI:2155808  MP:0003675 kidney cysts PMID: 18235088 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL		 MGI:1099818  MP:0003675 kidney cysts PMID: 20181743 
Hdac5+|Hdac5tm1Eno|Pkd2tm2Som Hdac5tm1Eno/Hdac5+,Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL		 MGI:1099818  MGI:1333784  MP:0003675 kidney cysts PMID: 20181743 
Pkd2tm1Som|Pkd2tm2Som Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003606 kidney failure PMID: 10615132 
Pkd2lrm4 Pkd2lrm4/Pkd2lrm4
involves: BALB/cAnN * C3H/HeH		 MGI:1099818  MP:0003178 left pulmonary isomerism PMID: 19235720 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0006208 lethality throughout fetal growth and development PMID: 10615132 
Hdac5tm1Eno|Pkd2tm2Som Hdac5tm1Eno/Hdac5tm1Eno,Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL		 MGI:1099818  MGI:1333784  MP:0006208 lethality throughout fetal growth and development PMID: 20181743 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL		 MGI:1099818  MP:0006208 lethality throughout fetal growth and development PMID: 20181743 
Pkd2tm1Som Pkd2tm1Som/Pkd2tm1Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003327 liver cysts PMID: 9568711 
Pkd2+|Pkd2tm2Som Pkd2tm2Som/Pkd2+
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003327 liver cysts PMID: 10615132  9568711 
Pkd2tm1Som|Pkd2tm2Som Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003327 liver cysts PMID: 9568711 
Pkd1+|Pkd1tm1Som|Pkd2+|Pkd2tm2Som Pkd1tm1Som/Pkd1+,Pkd2tm2Som/Pkd2+
involves: 129/Sv * C57BL/6 * SJL		 MGI:1099818  MGI:97603  MP:0003327 liver cysts PMID: 12140187 
Pkd2+|Pkd2tm2Som Pkd2tm2Som/Pkd2+
involves: 129/Sv * C57BL/6 * SJL		 MGI:1099818  MP:0003327 liver cysts PMID: 12140187 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0003327 liver cysts PMID: 18782757 
Pkd2lrm4 Pkd2lrm4/Pkd2lrm4
involves: BALB/cAnN * C3H/HeH		 MGI:1099818  MP:0000650 mesocardia PMID: 19235720 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003336 pancreas cysts PMID: 10615132 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0003336 pancreas cysts PMID: 12062060 
Pkd2tm1Som|Pkd2tm2Som Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0003336 pancreas cysts PMID: 10615132 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0003336 pancreas cysts PMID: 18782757 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0005312 pericardial effusion PMID: 10615132 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0004020 polyhydramnios PMID: 16301212 
Pkd2tm1Gwu Pkd2tm1Gwu/Pkd2tm1Gwu
involves: C57BL/6		 MGI:1099818  MP:0001732 postnatal growth retardation PMID: 18782757 
Pkd2+|Pkd2tm2Som Pkd2tm2Som/Pkd2+
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0002083 premature death PMID: 10615132 
Pkd2tm1Som|Pkd2tm2Som Pkd2tm1Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0002083 premature death PMID: 10615132 
Pkd2lrm4 Pkd2lrm4/Pkd2lrm4
involves: BALB/cAnN * C3H/HeH		 MGI:1099818  MP:0000531 right pulmonary isomerism PMID: 19235720 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0002767 situs ambiguus PMID: 12062060 
Pkd2tm1Dwo Pkd2tm1Dwo/Pkd2tm1Dwo
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)		 MGI:1099818  MP:0002766 situs inversus PMID: 12062060 
Pkd2lrm4 Pkd2lrm4/Pkd2lrm4
involves: BALB/cAnN * C3H/HeH		 MGI:1099818  MP:0002766 situs inversus PMID: 19235720 
Pkd2tm2Som Pkd2tm2Som/Pkd2tm2Som
involves: 129/Sv * C57BL/6J * SJL		 MGI:1099818  MP:0010402 ventricular septal defect PMID: 10615132 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Polycystic kidney disease
OMIM:  173910
Orphanet:  730
Role:  Mutation leads to a progressive increase in cyst formation, particularly in the kidney, but also in the liver and other organs, leading to kidney disfunction and failure.
Comments:  It is proposed that the cyst formation requires a "two-hit" mechanism, where the inherited mutation is followed by a somatic mutation leading to local absence of TRPP1 and cyst formation.
References:  12,15
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human 2021-2024delTA or AT (mRNA, frameshift) 20
Missense Human 1765-1768delTTTT (mRNA, frameshift) 24
Missense Human 2160 insA (genomic DNA, frameshift) 14
Missense Human A2657G (mRNA, splice variant) 20
Missense Human 2217delG (mRNA, frameshift) 24
Missense Human 1443delT (mRNA, frameshift) 20
Missense Human 731delG (mRNA, frameshift) 24
Missense Human 231insC (mRNA, frameshift) 29
Missense Human D511V 20
Truncation Human R872X 20
Truncation Human E837X 24
Truncation Human R807X 24
Truncation Human R742X 12
Truncation Human Q555X 24
Truncation Human R464X 24
Truncation Human Q405X 12
Truncation Human W380X 12
Truncation Human R320X 20

REFERENCES

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1. Bhunia, AK; Piontek, K; Boletta, A; Liu, L; Qian, F; Xu, PN; Germino, FJ; Germino, GG. (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 (2): 157-68. [PMID:12007403]

2. Gallagher, AR; Cedzich, A; Gretz, N; Somlo, S; Witzgall, R. (2000) The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc. Natl. Acad. Sci. U.S.A., 97 (8): 4017-22. [PMID:10760273]

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To cite this database page, please use the following:

David E. Clapham, Bernd Nilius, Grzegorz Owsianik.
Transient Receptor Potential channels: TRPP1. Last modified on 28/02/2012. Accessed on 25/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=504.


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