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TRPP3

Family: Transient Receptor Potential channels

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Tissue Distribution
Functional Assays
Phenotypes, Alleles and Disease Models
General Comments
References
Gene and Protein Information
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 6 1 613 5q31 PKD2L2 polycystic kidney disease 2-like 2 3
Mouse 6 1 621 18 C Pkd2l2 polycystic kidney disease 2-like 2 1
Rat 6 1 621 18p12 Pkd2l2 polycystic kidney disease 2-like 2
Previous and Unofficial Names
polycystic kidney disease 2-like 2 protein
PKD2L2
polycystin-L2
TRPP5
LOC291683
Pkd2l2_predicted
polycystic kidney disease 2-like 2
polycystic kidney disease 2-like 2 (predicted)
Polycystin - L2
Database Links
Ensembl ENSG00000078795 (Hs), ENSMUSG00000014503 (Mm), ENSRNOG00000025489 (Rn)
Entrez Gene 27039 (Hs), 53871 (Mm), 291683 (Rn)
GeneCards PKD2L2 (Hs)
GenitoUrinary Development Molecular Anatomy Project Pkd2l2 (Mm)
HomoloGene 22812 (Hs)
Human Protein Reference Database 05238 (Hs)
InterPro Q9NZM6 (Hs), Q9JLG4 (Mm)
KEGG Gene hsa:27039 (Hs), mmu:53871 (Mm), rno:291683 (Rn)
OMIM 604669 (Hs)
PharmGKB Gene PA33345 (Hs)
PhosphoSitePlus Q9NZM6 (Hs), Q9JLG4 (Mm)
Protein Ontology (PRO) PRO:000012775 (Hs)
RefSeq Nucleotide NM_014386 (Hs), NM_016927 (Mm), NM_001106156 (Rn)
RefSeq Protein NP_055201 (Hs), NP_058623 (Mm), NP_001099626 (Rn)
TreeFam ENSG00000078795 (Hs), ENSMUSG00000014503 (Mm), ENSRNOG00000025489 (Rn)
UniGene Hs. 567453 (Hs)
UniProt Q9NZM6 (Hs), Q9JLG4 (Mm)
Wikipedia TRPP3
Transient Receptor Potential channels
Search for 3D structures on the PDB
Search by keyword: Transient Receptor Potential channels TRPP3 Search by accession number: Q9NZM6, Q9JLG4
Ion Selectivity and Conductance
Not Determined
Voltage Dependence
Not Determined
Activators
Not Determined
Gating Inhibitors
Not Determined
Pore Blockers
Not Determined
Tissue Distribution
Widely expressed in fetal tissues (tissue-specific expression of splice variants).
Species:  Human
Technique:  RT-PCR
References:  1
Testis
Species:  Human
Technique:  Northern Blot
References:  3
Testis, heart
Species:  Mouse
Technique:  Northern Blot
References:  1
Functional Assays
Patch clamp (inside-out configuration)
Species:  Human
Tissue:  HEK 293 overexpressing TRPP3
Response measured:  Single channel current. This has not, however, been definitively identified as due to TRPP3.
References:  2
Physiological Functions
Not Determined
Phenotypes, Alleles and Disease Models Mouse data from MGI

Click here to show/hide data

Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Pkd2l2tm1Dgen Pkd2l2tm1Dgen/Pkd2l2tm1Dgen
involves: 129P2/OlaHsd * C57BL/6		 MGI:1858231  MP:0001399 hyperactivity
Clinically-Relevant Mutations and Pathophysiology
Not Determined
Gene Expression and Pathophysiology
Not Determined
Biologically Significant Variants
Not Determined
General Comments
No known association with human polycystic kidney disease.

REFERENCES

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1. Guo, L; Schreiber, TH; Weremowicz, S; Morton, CC; Lee, C; Zhou, J. (2000) Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization. Genomics, 64 (3): 241-51. [PMID:10756092]

2. Sutton, KA; Jungnickel, MK; Ward, CJ; Harris, PC; Florman, HM. (2006) Functional characterization of PKDREJ, a male germ cell-restricted polycystin. J. Cell. Physiol., 209 (2): 493-500. [PMID:16883570]

3. Veldhuisen, B; Spruit, L; Dauwerse, HG; Breuning, MH; Peters, DJ. (1999) Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Eur. J. Hum. Genet., 7 (8): 860-72. [PMID:10602361]

To cite this database page, please use the following:

David E. Clapham, Bernd Nilius, Grzegorz Owsianik.
Transient Receptor Potential channels: TRPP3. Last modified on 01/07/2010. Accessed on 23/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=506.


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