Nomenclature: TRPP3

Family: Transient Receptor Potential channels

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 

Contents

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 Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
OMIM
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Wikipedia
Tissue Distribution
Testis
Species:  Human
Technique:  Northern Blot
References:  3
Widely expressed in fetal tissues (tissue-specific expression of splice variants).
Species:  Human
Technique:  RT-PCR
References:  1
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
Phenotypes, Alleles and Disease Models Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Pkd2l2tm1Dgen Pkd2l2tm1Dgen/Pkd2l2tm1Dgen
involves: 129P2/OlaHsd * C57BL/6
MGI:1858231  MP:0001399 hyperactivity
General Comments
No known association with human polycystic kidney disease.

REFERENCES

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. Genomics64 (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 21/08/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=506.

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