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TRPP3

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Target id: 506

Nomenclature: TRPP3

Family: Transient Receptor Potential channels (TRP)

Contents:

Gene and Protein Information Click here for help
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 6 1 624 5q31.2 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel 3
Mouse 6 1 621 18 B1 Pkd2l2 polycystic kidney disease 2-like 2 1
Rat 6 1 621 18p12 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel
Previous and Unofficial Names Click here for help
TRPP5 | polycystin 2 like 2 | polycystin 2 like 2, transient receptor potential cation channel
Database Links Click here for help
Alphafold Q9NZM6 (Hs), Q9JLG4 (Mm)
Ensembl Gene ENSG00000078795 (Hs), ENSMUSG00000014503 (Mm), ENSRNOG00000025489 (Rn)
Entrez Gene 27039 (Hs), 53871 (Mm), 291683 (Rn)
Human Protein Atlas ENSG00000078795 (Hs)
KEGG Gene hsa:27039 (Hs), mmu:53871 (Mm), rno:291683 (Rn)
OMIM 604669 (Hs)
Pharos Q9NZM6 (Hs)
RefSeq Nucleotide NM_014386 (Hs), NM_016927 (Mm), NM_001106156 (Rn)
RefSeq Protein NP_055201 (Hs), NP_058623 (Mm), NP_001099626 (Rn)
UniProtKB Q9NZM6 (Hs), Q9JLG4 (Mm)
Wikipedia PKD2L2 (Hs)
Functional Characteristics Click here for help
TRPP3 is not fully characterized yet. One report suggests the single channel activity of PKD2L2 in HEK293 cells as a 25 pS conductance [2], but these recordings have not been confirmed.
Tissue Distribution Click here for help
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 Click here for help
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 Click here for help 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

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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]

Contributors

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