PKD2L1

Protein-coding gene in the species Homo sapiens
PKD2L1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3TE3, 4GIF

Identifiers
AliasesPKD2L1, PCL, PKD2L, PKDL, TRPP3, polycystin 2 like 1, transient receptor potential cation channel
External IDsOMIM: 604532; MGI: 1352448; HomoloGene: 22946; GeneCards: PKD2L1; OMA:PKD2L1 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for PKD2L1
Genomic location for PKD2L1
Band10q24.31Start100,288,149 bp[1]
End100,330,264 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for PKD2L1
Genomic location for PKD2L1
Band19 C3|19 36.91 cMStart44,136,076 bp[2]
End44,180,881 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • spleen

  • right frontal lobe

  • Brodmann area 9

  • sperm

  • glomerulus

  • right lung

  • anterior cingulate cortex

  • prefrontal cortex

  • placenta

  • mononuclear cell
Top expressed in
  • lumbar subsegment of spinal cord

  • spermatocyte

  • seminiferous tubule

  • embryo

  • embryo

  • anterior horn of spinal cord

  • tongue

  • vallate papilla

  • gastrula

  • spermatid
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
  • calcium activated cation channel activity
  • muscle alpha-actinin binding
  • calcium channel activity
  • cation transmembrane transporter activity
  • calcium-activated potassium channel activity
  • sodium channel activity
  • cytoskeletal protein binding
  • protein binding
  • alpha-actinin binding
  • cation channel activity
  • identical protein binding
  • sour taste receptor activity
Cellular component
  • integral component of membrane
  • cell projection
  • calcium channel complex
  • membrane
  • intracellular membrane-bounded organelle
  • receptor complex
  • plasma membrane
  • cilium
  • cell surface
  • endoplasmic reticulum
  • ciliary membrane
  • cation channel complex
  • non-motile cilium
  • integral component of plasma membrane
  • cytoplasmic vesicle
Biological process
  • sodium ion transmembrane transport
  • cellular response to acidic pH
  • cation transport
  • sensory perception of sour taste
  • ion transport
  • protein homotrimerization
  • calcium ion transmembrane transport
  • detection of mechanical stimulus
  • potassium ion transmembrane transport
  • smoothened signaling pathway
  • detection of chemical stimulus involved in sensory perception of sour taste
  • calcium ion transport
  • response to water
  • detection of chemical stimulus involved in sensory perception of taste
  • protein tetramerization
  • protein homotetramerization
  • cellular response to pH
  • inorganic cation transmembrane transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9033

329064

Ensembl

ENSG00000107593

ENSMUSG00000037578

UniProt

Q9P0L9

A2A259

RefSeq (mRNA)

NM_001253837
NM_016112

NM_181422

RefSeq (protein)

NP_001240766
NP_057196

NP_852087

Location (UCSC)Chr 10: 100.29 – 100.33 MbChr 19: 44.14 – 44.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Polycystic kidney disease 2-like 1 protein also known as transient receptor potential polycystic 2 (TRPP2; formerly TRPP3) is a protein that in humans is encoded by the PKD2L1 gene.[5]

Function

TRPP2 is a member of the polycystin protein family. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. TRPP2 may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined.[5]

Interactions

PKD2L1 has been shown to interact with TNNI3.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107593 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037578 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: PKD2L1 polycystic kidney disease 2-like 1".
  6. ^ Li Q, Liu Y, Shen PY, Dai XQ, Wang S, Smillie LB, Sandford R, Chen XZ (June 2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID 12809519.

Further reading

  • Geng L, Okuhara D, Yu Z, et al. (2006). "Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif". J. Cell Sci. 119 (Pt 7): 1383–95. doi:10.1242/jcs.02818. PMID 16537653.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Li Q, Liu Y, Shen PY, et al. (2003). "Troponin I binds polycystin-L and inhibits its calcium-induced channel activation". Biochemistry. 42 (24): 7618–25. doi:10.1021/bi034210a. PMID 12809519.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Li Q, Liu Y, Zhao W, Chen XZ (2002). "The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation". FEBS Lett. 516 (1–3): 270–8. doi:10.1016/S0014-5793(02)02513-9. PMID 11959145. S2CID 1812119.
  • Basora N, Nomura H, Berger UV, et al. (2002). "Tissue and cellular localization of a novel polycystic kidney disease-like gene product, polycystin-L". J. Am. Soc. Nephrol. 13 (2): 293–301. doi:10.1681/ASN.V132293. PMID 11805156.
  • Stayner C, Zhou J (2001). "Polycystin channels and kidney disease". Trends Pharmacol. Sci. 22 (11): 543–6. doi:10.1016/S0165-6147(00)01832-0. PMID 11698076.
  • Guo L, Chen M, Basora N, Zhou J (2000). "The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism". Mamm. Genome. 11 (1): 46–50. doi:10.1007/s003350010009. PMID 10602992. S2CID 27177354.
  • Veldhuisen B, Spruit L, Dauwerse HG, et al. (2000). "Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)". Eur. J. Hum. Genet. 7 (8): 860–72. doi:10.1038/sj.ejhg.5200383. PMID 10602361.
  • Chen XZ, Vassilev PM, Basora N, et al. (1999). "Polycystin-L is a calcium-regulated cation channel permeable to calcium ions". Nature. 401 (6751): 383–6. doi:10.1038/43907. PMID 10517637. S2CID 4412921.
  • Tsiokas L, Arnould T, Zhu C, et al. (1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3934–9. Bibcode:1999PNAS...96.3934T. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141.
  • Wu G, Hayashi T, Park JH, et al. (1999). "Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25". Genomics. 54 (3): 564–8. doi:10.1006/geno.1998.5618. PMID 9878261.
  • Nomura H, Turco AE, Pei Y, et al. (1998). "Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects". J. Biol. Chem. 273 (40): 25967–73. doi:10.1074/jbc.273.40.25967. PMID 9748274.


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