Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PKD2L2 Gene

Aliases for PKD2L2 Gene

  • Polycystin 2 Like 2, Transient Receptor Potential Cation Channel 2 3 5
  • Transient Receptor Potential Cation Channel Subfamily P Member 5 2 3
  • Polycystin-2L2 3 4
  • Polycystin-L2 3 4
  • Polycystic Kidney Disease 2-Like 2 Protein 3
  • Polycystic Kidney Disease 2-Like 2 2
  • TRPP5 3

External Ids for PKD2L2 Gene

Previous GeneCards Identifiers for PKD2L2 Gene

  • GC05P137100
  • GC05P137256
  • GC05P137301
  • GC05P137253
  • GC05P137225
  • GC05P132416

Summaries for PKD2L2 Gene

GeneCards Summary for PKD2L2 Gene

PKD2L2 (Polycystin 2 Like 2, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2L2 include Polycystic Kidney Disease 2 and Polycystic Kidney Disease. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium channel activity. An important paralog of this gene is PKD2L1.

UniProtKB/Swiss-Prot for PKD2L2 Gene

  • May function as a subunit of a cation channel and play a role in fertilization.

Gene Wiki entry for PKD2L2 Gene

Additional gene information for PKD2L2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD2L2 Gene

Genomics for PKD2L2 Gene

GeneHancer (GH) Regulatory Elements for PKD2L2 Gene

Promoters and enhancers for PKD2L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I137887 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 555 +1.0 967 2.2 HDGF PKNOX1 SMAD1 FEZF1 ZNF2 YY1 POLR2B ZNF213 E2F8 ZNF207 PKD2L2 LOC101928005 HNRNPA0 CDC23 KDM3B BRD8 MYOT
GH05I137886 Enhancer 0.4 dbSUPER 550.8 -1.2 -1249 1.4 ZNF664 PRDM6 PKD2L2 LOC101928005 MYOT
GH05I137847 Enhancer 0.8 ENCODE dbSUPER 16.5 -39.9 -39874 1.7 ZNF687 JUNB BATF ATF2 IRF4 RELA IKZF1 RUNX3 IKZF2 PKD2L2 LOC101928005 KLHL3 RNU6-1148P GC05M137818 NPY6R
GH05I137855 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.1 -30.4 -30407 3.5 PKNOX1 RNF2 CBFB JUNB MZF1 EBF1 ATF2 NR2F2 BCL11A SMARCA4 NME5 PKD2L2 RNU6-1148P GC05M137818 LOC101928005 NPY6R
GH05I137751 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.1 -134.5 -134536 4.6 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC HNRNPA0 KDM3B CDC23 RPL7P19 FAM13B NME5 PKD2L2 GC05M137746 GC05P137725
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PKD2L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKD2L2 gene promoter:

Genomic Locations for PKD2L2 Gene

Genomic Locations for PKD2L2 Gene
chr5:137,887,968-137,942,747
(GRCh38/hg38)
Size:
54,780 bases
Orientation:
Plus strand
chr5:137,223,657-137,278,436
(GRCh37/hg19)

Genomic View for PKD2L2 Gene

Genes around PKD2L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD2L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD2L2 Gene

Proteins for PKD2L2 Gene

  • Protein details for PKD2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZM6-PK2L2_HUMAN
    Recommended name:
    Polycystic kidney disease 2-like 2 protein
    Protein Accession:
    Q9NZM6
    Secondary Accessions:
    • A6NK98
    • B4DXD2
    • E9PC91
    • E9PDG4
    • Q86YB4
    • Q9UNJ0

    Protein attributes for PKD2L2 Gene

    Size:
    624 amino acids
    Molecular mass:
    73790 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD46478.1; Type=Frameshift; Positions=595; Evidence={ECO:0000305};

    Alternative splice isoforms for PKD2L2 Gene

neXtProt entry for PKD2L2 Gene

Post-translational modifications for PKD2L2 Gene

  • Glycosylation at isoforms=2, 5, 6, 7115 and Asn138
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKD2L2 Gene

Domains & Families for PKD2L2 Gene

Gene Families for PKD2L2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for PKD2L2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PKD2L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZM6

UniProtKB/Swiss-Prot:

PK2L2_HUMAN :
  • Belongs to the polycystin family.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD2L2: view

Function for PKD2L2 Gene

Molecular function for PKD2L2 Gene

GENATLAS Biochemistry:
polycystic kidney disease 2(polycystin)-like 2,restrictively expressed in testis
UniProtKB/Swiss-Prot Function:
May function as a subunit of a cation channel and play a role in fertilization.

Phenotypes From GWAS Catalog for PKD2L2 Gene

Gene Ontology (GO) - Molecular Function for PKD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IBA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PKD2L2: view
genes like me logo Genes that share phenotypes with PKD2L2: view

Animal Models for PKD2L2 Gene

MGI Knock Outs for PKD2L2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PKD2L2

CRISPR Products

miRNA for PKD2L2 Gene

miRTarBase miRNAs that target PKD2L2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PKD2L2 Gene

Localization for PKD2L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD2L2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKD2L2 gene
Compartment Confidence
plasma membrane 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PKD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 10602361
genes like me logo Genes that share ontologies with PKD2L2: view

Pathways & Interactions for PKD2L2 Gene

SuperPathways for PKD2L2 Gene

No Data Available

Interacting Proteins for PKD2L2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000290431%0d%0a9606.ENSP00000355568%0d%0a9606.ENSP00000365040%0d%0a9606.ENSP00000217244%0d%0a9606.ENSP00000262506%0d%0a9606.ENSP00000378306%0d%0a
Selected Interacting proteins: Q9NZM6-PK2L2_HUMAN ENSP00000290431 for PKD2L2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PKD2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008150 biological_process ND --
GO:0050982 detection of mechanical stimulus IBA --
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with PKD2L2: view

No data available for Pathways by source and SIGNOR curated interactions for PKD2L2 Gene

Drugs & Compounds for PKD2L2 Gene

No Compound Related Data Available

Transcripts for PKD2L2 Gene

Unigene Clusters for PKD2L2 Gene

Polycystic kidney disease 2-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKD2L2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1:
SP2: - -
SP3: -
SP4:

Relevant External Links for PKD2L2 Gene

GeneLoc Exon Structure for
PKD2L2
ECgene alternative splicing isoforms for
PKD2L2

Expression for PKD2L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PKD2L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKD2L2 Gene

This gene is overexpressed in Testis (x14.2).

Protein differential expression in normal tissues from HIPED for PKD2L2 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PKD2L2 Gene



Protein tissue co-expression partners for PKD2L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PKD2L2 Gene:

PKD2L2

SOURCE GeneReport for Unigene cluster for PKD2L2 Gene:

Hs.716884

mRNA Expression by UniProt/SwissProt for PKD2L2 Gene:

Q9NZM6-PK2L2_HUMAN
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.
genes like me logo Genes that share expression patterns with PKD2L2: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PKD2L2 Gene

Orthologs for PKD2L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKD2L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKD2L2 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia PKD2L2 33 34
  • 90.72 (n)
cow
(Bos Taurus)
Mammalia PKD2L2 33 34
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Pkd2l2 33 16 34
  • 80.82 (n)
rat
(Rattus norvegicus)
Mammalia Pkd2l2 33
  • 80.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PKD2L2 34
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PKD2L2 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves PKD2L2 33 34
  • 61.57 (n)
lizard
(Anolis carolinensis)
Reptilia PKD2L2 34
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pkd1l3 34
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Pkd2 35 34
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea pkd-2 34
  • 28 (a)
OneToMany
Species where no ortholog for PKD2L2 was found in the sources mined by GeneCards:
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PKD2L2 Gene

ENSEMBL:
Gene Tree for PKD2L2 (if available)
TreeFam:
Gene Tree for PKD2L2 (if available)

Paralogs for PKD2L2 Gene

Paralogs for PKD2L2 Gene

(4) SIMAP similar genes for PKD2L2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PKD2L2: view

Variants for PKD2L2 Gene

Sequence variations from dbSNP and Humsavar for PKD2L2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1014138812 uncertain-significance, Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant, Spheroid body myopathy 137,887,552(+) A/G upstream_transcript_variant
rs149535236 likely-benign, Spheroid body myopathy, Limb-Girdle Muscular Dystrophy, Dominant, Myofibrillar Myopathy, Dominant 137,887,848(+) C/A/T upstream_transcript_variant
rs4288 benign, Limb-Girdle Muscular Dystrophy, Dominant, Spheroid body myopathy, Myofibrillar Myopathy, Dominant 137,887,483(+) G/A upstream_transcript_variant
rs74711051 likely-benign, Limb-Girdle Muscular Dystrophy, Dominant, Spheroid body myopathy, Myofibrillar Myopathy, Dominant 137,887,575(+) C/G upstream_transcript_variant
rs778508971 uncertain-significance, Spheroid body myopathy, Myofibrillar Myopathy, Dominant, Limb-Girdle Muscular Dystrophy, Dominant 137,887,803(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PKD2L2 Gene

Variant ID Type Subtype PubMed ID
esv3606913 CNV gain 21293372
esv3606915 CNV gain 21293372
esv5566 CNV gain 19470904
nsv1142450 CNV tandem duplication 24896259
nsv830501 CNV gain 17160897
nsv830502 CNV gain 17160897

Variation tolerance for PKD2L2 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKD2L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKD2L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD2L2 Gene

Disorders for PKD2L2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PKD2L2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PKD2L2

genes like me logo Genes that share disorders with PKD2L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKD2L2 Gene

Publications for PKD2L2 Gene

  1. Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization. (PMID: 10756092) Guo L … Zhou J (Genomics 2000) 3 4 22 58
  2. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PMID: 10602361) Veldhuisen B … Peters DJ (European journal of human genetics : EJHG 1999) 2 3 4 58
  3. Polycystin channels and kidney disease. (PMID: 11698076) Stayner C … Zhou J (Trends in pharmacological sciences 2001) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for PKD2L2 Gene

Sources for PKD2L2 Gene

Content
Loading form....