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Aliases for PKD2L1 Gene

Aliases for PKD2L1 Gene

  • Polycystin 2 Like 1, Transient Receptor Potential Cation Channel 2 3
  • Polycystic Kidney Disease 2-Like 1 2 5
  • Polycystin-2 Homolog 3 4
  • Polycystin-2L1 3 4
  • Polycystin-L1 3 4
  • Polycystin-L 3 4
  • PKD2L 3 4
  • TRPP3 3 4
  • PKDL 3 4
  • Transient Receptor Potential Cation Channel, Subfamily P, Member 3 3
  • Transient Receptor Potential Cation Channel 2
  • Subfamily P 2
  • Member 3 2
  • PCL 3

External Ids for PKD2L1 Gene

Previous HGNC Symbols for PKD2L1 Gene

  • PKD2L
  • PKDL

Previous GeneCards Identifiers for PKD2L1 Gene

  • GC10M100941
  • GC10M101281
  • GC10M102179
  • GC10M101712
  • GC10M102037
  • GC10M095676
  • GC10M102047

Summaries for PKD2L1 Gene

Entrez Gene Summary for PKD2L1 Gene

  • This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for PKD2L1 Gene

PKD2L1 (Polycystin 2 Like 1, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2L1 include lymphedema, hereditary, ia and hemangioma, capillary infantile. Among its related pathways are Taste transduction. GO annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is ENSG00000279362.

UniProtKB/Swiss-Prot for PKD2L1 Gene

  • Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect.

Gene Wiki entry for PKD2L1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD2L1 Gene

Genomics for PKD2L1 Gene

Regulatory Elements for PKD2L1 Gene

Genomic Location for PKD2L1 Gene

Chromosome:
10
Start:
100,288,145 bp from pter
End:
100,346,524 bp from pter
Size:
58,380 bases
Orientation:
Minus strand

Genomic View for PKD2L1 Gene

Genes around PKD2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD2L1 Gene

Proteins for PKD2L1 Gene

  • Protein details for PKD2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0L9-PK2L1_HUMAN
    Recommended name:
    Polycystic kidney disease 2-like 1 protein
    Protein Accession:
    Q9P0L9
    Secondary Accessions:
    • O75972
    • Q5W039
    • Q9UP35
    • Q9UPA2

    Protein attributes for PKD2L1 Gene

    Size:
    805 amino acids
    Molecular mass:
    91982 Da
    Quaternary structure:
    • Homotrimer; trimerization is independent of calcium-binding. Calcium channels are probably composed of 3 subunit of PKD2L1 and 1 subunit of some PKD1 protein (PKD1, PKD1L1, PKD1L2 or PKDL3). Interacts with PKD1. Interacts with PKD1L1; to form ciliary calcium channel. Interacts with PKD1L3, to form putative sour taste receptor. Interacts with RACK1; inhibits the channel activity possibly by impairing localization to the cell membrane.

    Three dimensional structures from OCA and Proteopedia for PKD2L1 Gene

    Alternative splice isoforms for PKD2L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKD2L1 Gene

Proteomics data for PKD2L1 Gene at MOPED

Post-translational modifications for PKD2L1 Gene

  • Glycosylation at Asn 177, Asn 207, Asn 241, and Asn 505
  • Modification sites at PhosphoSitePlus

Other Protein References for PKD2L1 Gene

Antibody Products

No data available for DME Specific Peptides for PKD2L1 Gene

Domains & Families for PKD2L1 Gene

Gene Families for PKD2L1 Gene

Protein Domains for PKD2L1 Gene

Suggested Antigen Peptide Sequences for PKD2L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P0L9

UniProtKB/Swiss-Prot:

PK2L1_HUMAN :
  • The EF-hand domain probably mediates calcium-binding. It is not required for channel activation (PubMed:11959145).
  • Belongs to the polycystin family.
Domain:
  • The EF-hand domain probably mediates calcium-binding. It is not required for channel activation (PubMed:11959145).
  • Contains 1 EF-hand domain.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD2L1: view

Function for PKD2L1 Gene

Molecular function for PKD2L1 Gene

GENATLAS Biochemistry:
polycystic kidney disease 2 (polycystin)-like 1,expressed at high level in fetal tissues,including kidney and liver,down-regulated in adult,deleted in mice with kidney and retinal defects,calcium modulated non selective cation channel permeable to Na+,K+,Ca++ ions,highly homolog to PKD2
UniProtKB/Swiss-Prot EnzymeRegulation:
The calcium channel is gated following an off-response property by acid: gated open after the removal of acid stimulus, but not during acid application.
UniProtKB/Swiss-Prot Function:
Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect.

Gene Ontology (GO) - Molecular Function for PKD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IEA,IDA 24336289
GO:0008092 cytoskeletal protein binding IPI 12809519
GO:0015269 calcium-activated potassium channel activity IDA 10517637
GO:0033040 contributes_to sour taste receptor activity IEA,ISS --
GO:0042802 identical protein binding IEA,ISS --
genes like me logo Genes that share ontologies with PKD2L1: view
genes like me logo Genes that share phenotypes with PKD2L1: view

Animal Models for PKD2L1 Gene

MGI Knock Outs for PKD2L1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PKD2L1

miRNA for PKD2L1 Gene

miRTarBase miRNAs that target PKD2L1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PKD2L1 Gene

Localization for PKD2L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD2L1 Gene

Cell projection, cilium membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Note=Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKD2L1 Gene COMPARTMENTS Subcellular localization image for PKD2L1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for PKD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane NAS 9748274
GO:0031513 nonmotile primary cilium IDA 24336289
GO:0043235 receptor complex IEA,ISS --
GO:0060170 ciliary membrane IEA --
genes like me logo Genes that share ontologies with PKD2L1: view

Pathways & Interactions for PKD2L1 Gene

SuperPathways for PKD2L1 Gene

Superpath Contained pathways
1 Taste transduction
genes like me logo Genes that share pathways with PKD2L1: view

Pathways by source for PKD2L1 Gene

1 KEGG pathway for PKD2L1 Gene

Gene Ontology (GO) - Biological Process for PKD2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001581 detection of chemical stimulus involved in sensory perception of sour taste ISS --
GO:0050982 detection of mechanical stimulus IBA --
genes like me logo Genes that share ontologies with PKD2L1: view

No data available for SIGNOR curated interactions for PKD2L1 Gene

Drugs & Compounds for PKD2L1 Gene

(13) Drugs for PKD2L1 Gene - From: DGIdb, IUPHAR, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker 45
Flufenamic acid Experimental Pharma Channel blocker Activates TRPC6; NSAID 0
Benzamil Pharma Channel blocker NCX inhibitor, Deg/ENaC channel blocker; amiloride (Cat. No. 0890) derivative 0
flufenamate Pharma Channel blocker 0
Gd<sup>3+</sup> Pharma Channel blocker 0

(3) Additional Compounds for PKD2L1 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ca<sub>i</sub><sup>2+</sup>
Activator
Ca<sub>o</sub><sup>2+</sup>
Agonist, Activator
EIPA
Positive, Allosteric regulator
genes like me logo Genes that share compounds with PKD2L1: view

Transcripts for PKD2L1 Gene

mRNA/cDNA for PKD2L1 Gene

Unigene Clusters for PKD2L1 Gene

Polycystic kidney disease 2-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKD2L1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2: -

Relevant External Links for PKD2L1 Gene

GeneLoc Exon Structure for
PKD2L1
ECgene alternative splicing isoforms for
PKD2L1

Expression for PKD2L1 Gene

mRNA expression in normal human tissues for PKD2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKD2L1 Gene

This gene is overexpressed in Brain - Cortex (x9.3), Brain - Frontal Cortex (BA9) (x8.9), Spleen (x8.1), and Testis (x5.3).

Protein differential expression in normal tissues from HIPED for PKD2L1 Gene

This gene is overexpressed in Plasma (44.1) and Colon (24.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PKD2L1 Gene



SOURCE GeneReport for Unigene cluster for PKD2L1 Gene Hs.159241

mRNA Expression by UniProt/SwissProt for PKD2L1 Gene

Q9P0L9-PK2L1_HUMAN
Tissue specificity: Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver. According to PubMed:9748274, expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in adult tissues. According to PubMed:10602361, expressed in fetal brain, but not expressed in fetal lung, liver or kidney. Isoform 4 appears to be expressed only in transformed lymphoblasts.
genes like me logo Genes that share expression patterns with PKD2L1: view

Protein tissue co-expression partners for PKD2L1 Gene

Primer Products

In Situ Assay Products

Orthologs for PKD2L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKD2L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKD2L1 36
  • 99 (a)
OneToOne
PKD2L1 35
  • 99.54 (n)
  • 99.38 (a)
cow
(Bos Taurus)
Mammalia PKD2L1 36
  • 88 (a)
OneToOne
PKD2L1 35
  • 89.29 (n)
  • 87.53 (a)
dog
(Canis familiaris)
Mammalia PKD2L1 35
  • 89.96 (n)
  • 91.11 (a)
PKD2L1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkd2l1 16
Pkd2l1 35
  • 86.53 (n)
  • 87.55 (a)
Pkd2l1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PKD2L1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKD2L1 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkd2l1 35
  • 85.57 (n)
  • 87.16 (a)
chicken
(Gallus gallus)
Aves PKD2L1 35
  • 72.01 (n)
  • 76.03 (a)
PKD2L1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKD2L1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd2l1 35
  • 67.95 (n)
  • 70.52 (a)
zebrafish
(Danio rerio)
Actinopterygii pkd2l1 36
  • 57 (a)
OneToOne
pkd2l1 35
  • 63.59 (n)
  • 62.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pkd2 37
  • 39 (a)
Pkd2 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pkd-2 36
  • 34 (a)
OneToMany
pkd-2 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for PKD2L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PKD2L1 Gene

ENSEMBL:
Gene Tree for PKD2L1 (if available)
TreeFam:
Gene Tree for PKD2L1 (if available)

Paralogs for PKD2L1 Gene

Paralogs for PKD2L1 Gene

(2) SIMAP similar genes for PKD2L1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PKD2L1: view

Variants for PKD2L1 Gene

Sequence variations from dbSNP and Humsavar for PKD2L1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs603424 -- 100,315,722(+) TTTAC(A/G)CCTTT intron-variant
rs610745 -- 100,329,679(+) CAACC(A/G)GTAGA intron-variant
rs683854 -- 100,339,336(-) CCCCG(G/T)AGGGC intron-variant
rs622829 -- 100,322,393(+) atggt(C/G)gtggg intron-variant
rs185853 -- 100,301,468(-) tgcat(A/T)cccgg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKD2L1 Gene

Variant ID Type Subtype PubMed ID
nsv895922 CNV Loss 21882294
nsv831961 CNV Loss 17160897
esv2740073 CNV Deletion 23290073
esv2740084 CNV Deletion 23290073

Variation tolerance for PKD2L1 Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.36; 92.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PKD2L1 Gene

HapMap Linkage Disequilibrium report
PKD2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD2L1 Gene

Disorders for PKD2L1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PKD2L1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lymphedema, hereditary, ia
  • nonne-milroy lymphedema
hemangioma, capillary infantile
  • hemangioma, capillary infantile, somatic
polycystic kidney disease
  • congenital biliary ectasias
kidney disease
  • nephropathy
polycystic kidney disease 2
  • polycystic kidney disease, type 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PKD2L1

Genetic Association Database (GAD)
PKD2L1
Human Genome Epidemiology (HuGE) Navigator
PKD2L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKD2L1
genes like me logo Genes that share disorders with PKD2L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKD2L1 Gene

Publications for PKD2L1 Gene

  1. Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. (PMID: 9748274) Nomura H. … Zhou J. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Troponin I binds polycystin-L and inhibits its calcium-induced channel activation. (PMID: 12809519) Li Q. … Chen X.Z. (Biochemistry 2003) 3 23
  3. Tissue and cellular localization of a novel polycystic kidney disease-like gene product, polycystin-L. (PMID: 11805156) Basora N. … Zhou J. (J. Am. Soc. Nephrol. 2002) 3 23
  4. The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. (PMID: 11959145) Li Q. … Chen X.Z. (FEBS Lett. 2002) 3 23
  5. The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism. (PMID: 10602992) Guo L. … Zhou J. (Mamm. Genome 2000) 3 23

Products for PKD2L1 Gene

Sources for PKD2L1 Gene

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