Human Gene PKD2L2 (ENST00000290431.5) from GENCODE V44
  Description: Homo sapiens polycystin 2 like 2, transient receptor potential cation channel (PKD2L2), transcript variant 1, mRNA. (from RefSeq NM_014386)
Gencode Transcript: ENST00000290431.5
Gencode Gene: ENSG00000078795.17
Transcript (Including UTRs)
   Position: hg38 chr5:137,889,469-137,940,484 Size: 51,016 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr5:137,889,492-137,940,147 Size: 50,656 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:137,889,469-137,940,484)mRNA (may differ from genome)Protein (613 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PK2L2_HUMAN
DESCRIPTION: RecName: Full=Polycystic kidney disease 2-like 2 protein; AltName: Full=Polycystin-2L2; AltName: Full=Polycystin-L2;
FUNCTION: May function as a subunit of a cation channel and play a role in fertilization.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: According to PubMed:10602361, expressed only in testis. According to PubMed:10756092, expressed also in brain and kidney. Isoform 2 is found only in transformed lymphoblasts. Isoform 3 is found in all tissues tested.
SIMILARITY: Belongs to the polycystin family.
SEQUENCE CAUTION: Sequence=AAD46478.1; Type=Frameshift; Positions=595;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PKD2L2
Diseases sorted by gene-association score: polycystic kidney disease 2 (28), polycystic kidney disease (23), kidney disease (15), autosomal dominant polycystic kidney disease (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.98 RPKM in Testis
Total median expression: 7.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.4023-0.322 Picture PostScript Text
3' UTR -66.50337-0.197 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013122 - PKD1_2_channel
IPR003915 - PKD_2

Pfam Domains:
PF08016 - Polycystin cation channel

ModBase Predicted Comparative 3D Structure on Q9NZM6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005262 calcium channel activity
GO:0005509 calcium ion binding

Biological Process:
GO:0006811 ion transport
GO:0008150 biological_process
GO:0050982 detection of mechanical stimulus
GO:0070588 calcium ion transmembrane transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC034619 - Homo sapiens polycystic kidney disease 2-like 2, mRNA (cDNA clone IMAGE:4838523).
BC044581 - Homo sapiens polycystic kidney disease 2-like 2, mRNA (cDNA clone MGC:57172 IMAGE:4830805), complete cds.
BC038714 - Homo sapiens polycystic kidney disease 2-like 2, mRNA (cDNA clone IMAGE:5268481).
AK301924 - Homo sapiens cDNA FLJ60937 complete cds, highly similar to Polycystic kidney disease 2-like 2 protein.
AF182034 - Homo sapiens polycystic kidney disease-like 2 protein (PKDL2) mRNA, complete cds.
AF118125 - Homo sapiens polycystin-2-like protein (PKD2L2) mRNA, complete cds.
CU692208 - Synthetic construct Homo sapiens gateway clone IMAGE:100020935 5' read PKD2L2 mRNA.
KJ902447 - Synthetic construct Homo sapiens clone ccsbBroadEn_11841 PKD2L2 gene, encodes complete protein.
JD359468 - Sequence 340492 from Patent EP1572962.
JD056901 - Sequence 37925 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NK98, ENST00000290431.1, ENST00000290431.2, ENST00000290431.3, ENST00000290431.4, NM_014386, PK2L2_HUMAN, Q9NZM6, Q9UNJ0, uc003lbw.1, uc003lbw.2
UCSC ID: ENST00000290431.5
RefSeq Accession: NM_014386
Protein: Q9NZM6 (aka PK2L2_HUMAN or P2L2_HUMAN)
CCDS: CCDS43367.1, CCDS78062.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.