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Aliases for PKD2 Gene

Aliases for PKD2 Gene

  • Polycystin 2, Transient Receptor Potential Cation Channel 2 3
  • Polycystic Kidney Disease 2 (Autosomal Dominant) 2 3 5
  • Transient Receptor Potential Cation Channel Subfamily P Member 2 3 4
  • Autosomal Dominant Polycystic Kidney Disease Type II Protein 3 4
  • Polycystwin 3 4
  • R48321 3 4
  • TRPP2 3 4
  • Transient Receptor Potential Cation Channel, Subfamily P, Member 2 3
  • Transient Receptor Potential Cation Channel 2
  • Polycystic Kidney Disease 2 Protein 4
  • Subfamily P 2
  • Member 2 2
  • APKD2 3
  • PKD4 3
  • Pc-2 3
  • PC2 3

External Ids for PKD2 Gene

Previous GeneCards Identifiers for PKD2 Gene

  • GC04P089086
  • GC04P089230
  • GC04P089387
  • GC04P089285
  • GC04P089147
  • GC04P088929
  • GC04P084675

Summaries for PKD2 Gene

Entrez Gene Summary for PKD2 Gene

  • This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

GeneCards Summary for PKD2 Gene

PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel) is a Protein Coding gene. Diseases associated with PKD2 include polycystic kidney disease 2 and adams-oliver syndrome 5. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is ENSG00000279362.

UniProtKB/Swiss-Prot for PKD2 Gene

  • Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD1L1 in cilia to facilitate flow detection in left/right patterning (By similarity).

Gene Wiki entry for PKD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD2 Gene

Genomics for PKD2 Gene

Regulatory Elements for PKD2 Gene

Promoters for PKD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PKD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PKD2 Gene

Chromosome:
4
Start:
88,007,639 bp from pter
End:
88,077,779 bp from pter
Size:
70,141 bases
Orientation:
Plus strand

Genomic View for PKD2 Gene

Genes around PKD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD2 Gene

Proteins for PKD2 Gene

  • Protein details for PKD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13563-PKD2_HUMAN
    Recommended name:
    Polycystin-2
    Protein Accession:
    Q13563
    Secondary Accessions:
    • O60441
    • Q15764
    • Q2M1Q3
    • Q2M1Q5

    Protein attributes for PKD2 Gene

    Size:
    968 amino acids
    Molecular mass:
    109691 Da
    Quaternary structure:
    • Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). Interacts with PKD1L1. PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP (PubMed:10913159). Interacts with HAX1 (PubMed:10760273). Interacts with NEK8 (By similarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity). Interacts (via C-terminus) with TRPV4 (via C-terminus) (PubMed:18695040).

    Three dimensional structures from OCA and Proteopedia for PKD2 Gene

    Alternative splice isoforms for PKD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKD2 Gene

Proteomics data for PKD2 Gene at MOPED

Post-translational modifications for PKD2 Gene

  • Glycosylation at Asn 299, Asn 305, Asn 328, Asn 362, and Asn 375
  • Modification sites at PhosphoSitePlus

Other Protein References for PKD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PKD2 Gene

Domains & Families for PKD2 Gene

Suggested Antigen Peptide Sequences for PKD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13563

UniProtKB/Swiss-Prot:

PKD2_HUMAN :
  • The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1.
  • Belongs to the polycystin family.
Domain:
  • The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1.
  • Contains 1 EF-hand domain.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD2: view

Function for PKD2 Gene

Molecular function for PKD2 Gene

GENATLAS Biochemistry:
polycystin 2,integral membrane protein,with some homology with PKD1 and TRPC1,C elegans ZK9459,and the family of voltage gated Ca+ channels,ubiquitously expressed,involved in regulating ion transport
UniProtKB/Swiss-Prot Function:
Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Together with TRPV4, forms mechano- and thermosensitive channels in cilium (PubMed:18695040). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD1L1 in cilia to facilitate flow detection in left/right patterning (By similarity).

Gene Ontology (GO) - Molecular Function for PKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005248 voltage-gated sodium channel activity IDA 11252306
GO:0022843 voltage-gated cation channel activity IDA 11252306
GO:0042803 protein homodimerization activity IDA 9192675
genes like me logo Genes that share ontologies with PKD2: view
genes like me logo Genes that share phenotypes with PKD2: view

Human Phenotype Ontology for PKD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PKD2 Gene

MGI Knock Outs for PKD2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PKD2 Gene

Localization for PKD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD2 Gene

Cell projection, cilium membrane; Multi-pass membrane protein. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKD2 Gene COMPARTMENTS Subcellular localization image for PKD2 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for PKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IDA 11854751
GO:0005829 cytosol IEA --
GO:0030027 lamellipodium IDA 10760273
GO:0031513 nonmotile primary cilium IEA,ISS --
GO:0045180 basal cortex IEA,IDA 10770959
genes like me logo Genes that share ontologies with PKD2: view

Pathways & Interactions for PKD2 Gene

genes like me logo Genes that share pathways with PKD2: view

SIGNOR curated interactions for PKD2 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for PKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001658 branching involved in ureteric bud morphogenesis IEP 11891195
GO:0001822 kidney development IEA --
GO:0001892 embryonic placenta development IEA,ISS --
GO:0007050 cell cycle arrest IEA,ISS --
GO:0007259 JAK-STAT cascade IEA,ISS --
genes like me logo Genes that share ontologies with PKD2: view

Drugs & Compounds for PKD2 Gene

(9) Drugs for PKD2 Gene - From: IUPHAR, DGIdb, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker 45
Cd<sup>2+</sup> Pharma Channel blocker 0
Gd<sup>3+</sup> Pharma Channel blocker 0
La<sup>3+</sup> Pharma Pore Blocker 0
Ni<sup>2+</sup> Pharma Channel blocker 0

(5) Additional Compounds for PKD2 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ca<sub>i</sub><sup>2+</sup>
Activator
genes like me logo Genes that share compounds with PKD2: view

Transcripts for PKD2 Gene

Unigene Clusters for PKD2 Gene

Polycystic kidney disease 2 (autosomal dominant):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - -
SP2: -
SP3: -
SP4:

Relevant External Links for PKD2 Gene

GeneLoc Exon Structure for
PKD2
ECgene alternative splicing isoforms for
PKD2

Expression for PKD2 Gene

mRNA expression in normal human tissues for PKD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKD2 Gene

This gene is overexpressed in Artery - Aorta (x5.5).

Protein differential expression in normal tissues from HIPED for PKD2 Gene

This gene is overexpressed in Blymphocyte (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PKD2 Gene



SOURCE GeneReport for Unigene cluster for PKD2 Gene Hs.181272

mRNA Expression by UniProt/SwissProt for PKD2 Gene

Q13563-PKD2_HUMAN
Tissue specificity: Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.
genes like me logo Genes that share expression patterns with PKD2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for PKD2 Gene

Orthologs for PKD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKD2 36
  • 100 (a)
OneToOne
PKD2 35
  • 99.19 (n)
  • 99.39 (a)
cow
(Bos Taurus)
Mammalia PKD2 35
  • 91.36 (n)
  • 93.8 (a)
PKD2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKD2 36
  • 96 (a)
OneToOne
PKD2 35
  • 92.32 (n)
  • 95.81 (a)
mouse
(Mus musculus)
Mammalia Pkd2 16
Pkd2 36
  • 90 (a)
OneToOne
Pkd2 35
  • 85.96 (n)
  • 89.94 (a)
oppossum
(Monodelphis domestica)
Mammalia PKD2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKD2 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkd2 35
  • 85.86 (n)
  • 90.25 (a)
chicken
(Gallus gallus)
Aves PKD2 35
  • 76.98 (n)
  • 81.11 (a)
PKD2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKD2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd2 35
  • 70.22 (n)
  • 74.09 (a)
zebrafish
(Danio rerio)
Actinopterygii pkd2 36
  • 67 (a)
OneToOne
pkd2 35
  • 65.93 (n)
  • 67.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pkd2 36
  • 23 (a)
OneToMany
CG7125 37
  • 50 (a)
Pkd2 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea pkd-2 35
  • 50.46 (n)
  • 38.97 (a)
pkd-2 36
  • 34 (a)
OneToMany
pkd-2 37
  • 35 (a)
W09C5.5 37
  • 38 (a)
Species with no ortholog for PKD2:
  • 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)
  • wheat (Triticum aestivum)

Evolution for PKD2 Gene

ENSEMBL:
Gene Tree for PKD2 (if available)
TreeFam:
Gene Tree for PKD2 (if available)

Paralogs for PKD2 Gene

(2) SIMAP similar genes for PKD2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PKD2: view

Variants for PKD2 Gene

Sequence variations from dbSNP and Humsavar for PKD2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_009195 Polycystic kidney disease 2 (PKD2)
rs1805044 - 88,007,816(+) GGGCC(C/G)GCTGA nc-transcript-variant, reference, missense
VAR_011073 Polycystic kidney disease 2 (PKD2)
rs1801612 - 88,046,676(+) GTGTG(A/G)TTCCA nc-transcript-variant, reference, missense
VAR_058820 -

Structural Variations from Database of Genomic Variants (DGV) for PKD2 Gene

Variant ID Type Subtype PubMed ID
esv2665331 CNV Deletion 23128226
dgv1651e1 CNV Complex 17122850
esv25882 CNV Loss 19812545
esv2658797 CNV Deletion 23128226
essv19863 CNV CNV 17122850
esv2668876 CNV Deletion 23128226

Variation tolerance for PKD2 Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.86; 83.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PKD2 Gene

HapMap Linkage Disequilibrium report
PKD2
Human Gene Mutation Database (HGMD)
PKD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD2 Gene

Disorders for PKD2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PKD2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
polycystic kidney disease 2
  • polycystic kidney disease, type 2
adams-oliver syndrome 5
  • aos5
polycystic kidney disease
  • congenital biliary ectasias
kidney disease
  • nephropathy
polycystic liver disease
  • isolated autosomal dominant polycystic liver disease
- elite association - COSMIC cancer census association via MalaCards
Search PKD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PKD2_HUMAN
  • Polycystic kidney disease 2 (PKD2) [MIM:613095]: A disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. {ECO:0000269 PubMed:10411676, ECO:0000269 PubMed:10541293, ECO:0000269 PubMed:10835625, ECO:0000269 PubMed:11968093, ECO:0000269 PubMed:12707387, ECO:0000269 PubMed:14993477, ECO:0000269 PubMed:15772804, ECO:0000269 PubMed:21115670, ECO:0000269 PubMed:9326320}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PKD2 Gene

polycystic kidney disease 2,adult type,autosomal dominant,similar to PKD1 with cen average better prognosis,occuring by a cellular recessive mechanism supporting a two-hit model for cyst formation (somatic mutation in the cysts)

Relevant External Links for PKD2

Genetic Association Database (GAD)
PKD2
Human Genome Epidemiology (HuGE) Navigator
PKD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKD2
genes like me logo Genes that share disorders with PKD2: view

Publications for PKD2 Gene

  1. PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. (PMID: 14993477) Stekrova J. … Kohoutova M. (Nephrol. Dial. Transplant. 2004) 3 4 23 48 67
  2. Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice. (PMID: 19098310) Park E.Y. … Park J.H. (J. Biol. Chem. 2009) 3 23
  3. Family history of renal disease severity predicts the mutated gene in ADPKD. (PMID: 19443633) Barua M. … Pei Y. (J. Am. Soc. Nephrol. 2009) 3 23
  4. A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7. (PMID: 19812035) Miyagi K. … Mori Y. (J. Biol. Chem. 2009) 3 23
  5. [Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease]. (PMID: 19936001) GA^mez P.F. … Romo J.M. (Nefrologia 2009) 3 23

Products for PKD2 Gene

Sources for PKD2 Gene

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