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Aliases for PKD2 Gene

Aliases for PKD2 Gene

  • Polycystin 2, Transient Receptor Potential Cation Channel 2 3 5
  • Transient Receptor Potential Cation Channel Subfamily P Member 2 3 4
  • Autosomal Dominant Polycystic Kidney Disease Type II Protein 3 4
  • Polycystic Kidney Disease 2 (Autosomal Dominant) 2 3
  • Polycystin-2 3 4
  • TRPP2 3 4
  • PC2 3 4
  • Transient Receptor Potential Cation Channel, Subfamily P, Member 2 2
  • Polycystic Kidney Disease 2 Protein 4
  • Polycystwin 4
  • R48321 4
  • APKD2 3
  • PKD4 3
  • Pc-2 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 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include calcium ion binding and identical protein binding. An important paralog of this gene is PKD2L1.

UniProtKB/Swiss-Prot for PKD2 Gene

  • Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Can also form a functional, homotetrameric ion channel (PubMed:29899465). Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (PubMed:18695040). Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+) (PubMed:11854751, PubMed:15692563, PubMed:27071085, PubMed:27991905). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum (PubMed:11854751, PubMed:20881056). 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 to maintain the normal, differentiated state of renal tubule cells. 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 via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning. Detection of asymmetric nodal flow gives rise to a Ca(2+) signal that is required for normal, asymmetric expression of genes involved in the specification of body left-right laterality (By similarity).

Gene Wiki entry for PKD2 Gene

Additional gene information for PKD2 Gene

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

Genomics for PKD2 Gene

GeneHancer (GH) Regulatory Elements for PKD2 Gene

Promoters and enhancers for PKD2 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
GH04J088007 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 624.9 +1.3 1266 4.6 ZFX ELF3 POLR2A ZNF384 SP5 PRDM1 MZF1 GLIS2 ZBTB8A PRDM10 PKD2 NAP1L5 GC04P088089
GH04J087974 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 25.4 -30.4 -30434 4.8 CEBPG MAFK SP5 RXRA RNF2 NFE2L2 GATAD2A IRF2 KMT2B SOX13 SPP1 PKD2 RNU1-36P GC04P088001
GH04J087984 Enhancer 0.7 Ensembl 46.5 -22.6 -22634 2 CTCF RXRA GATAD2A IRF2 ZNF205 ZKSCAN8 SAP130 RAD21 SMC3 TFAP4 PKD2 RNU6ATAC31P SPP1 GC04P088001
GH04J088026 Enhancer 0.8 ENCODE dbSUPER 24.8 +21.0 20954 3.5 POLR2A ZNF585B CEBPB ZNF766 FOS STAT1 USF2 CEBPG PKD2 RNU6ATAC31P RNU6-818P ENSG00000249755 PIGY PYURF HERC3 GC04P088089
GH04J087972 Promoter/Enhancer 1.1 Ensembl ENCODE 11.7 -34.3 -34290 1.7 CTCF RAD21 RXRA PRDM10 GATAD2A KMT2B NFE2 RUNX3 YY1 SMC3 PKD2 SPP1 PIR37483
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKD2 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • HEN1
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a

Genomic Locations for PKD2 Gene

Genomic Locations for PKD2 Gene
chr4:88,007,635-88,077,779
(GRCh38/hg38)
Size:
70,145 bases
Orientation:
Plus strand
chr4:88,928,799-88,998,931
(GRCh37/hg19)
Size:
70,133 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:
    • Homotetramer (PubMed:20881056, PubMed:27768895, PubMed:27991905, PubMed:28092368, PubMed:29899465). Heterotetramer with PKD1, giving rise to a complex formed by one PKD1 chain and three PKD2 chains (PubMed:20881056, PubMed:19556541, PubMed:27214281, PubMed:30093605). Interaction with PKD1 is required for ciliary localization (By similarity) Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). Interacts with PKD1L1. 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). Interacts (via C-terminal acidic region) with PACS1 and PACS2; these interactions retain the protein in the endoplasmic reticulum and prevent trafficking to the cell membrane (PubMed:15692563).
    Miscellaneous:
    • The mechanisms that govern channel opening are complex and still under debate; heterologous expression of PKD2 by itself or together with PKD1 gives rise to very low or undetectable spontaneous ion channel activity, in spite of its presence at the cell membrane.

    Three dimensional structures from OCA and Proteopedia for PKD2 Gene

    Alternative splice isoforms for PKD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKD2 Gene

Post-translational modifications for PKD2 Gene

  • Phosphorylated. Phosphorylation is important for protein function; a mutant that lacks the N-terminal phosphorylation sites cannot complement a zebrafish pkd2-deficient mutant (PubMed:16551655). PKD-mediated phosphorylation at the C-terminus regulates its function in the release of Ca(2+) stores from the endoplasmic reticulum (PubMed:20881056). PKA-mediated phosphorylation at a C-terminal site strongly increases the open probability of the channel, but does not increase single channel conductance (PubMed:26269590).
  • N-glycosylated. The four subunits in a tetramer probably differ in the extent of glycosylation; simultaneous glycosylation of all experimentally validated sites would probably create steric hindrance. Thus, glycosylation at Asn-305 is not compatible with glycosylation at Asn-328; only one of these two residues is glycosylated at a given time.
  • Glycosylation at isoforms=2, 3, 4, 5375, posLast=362362, posLast=305305, posLast=328328, and posLast=299299
  • Modification sites at PhosphoSitePlus

Other Protein References for PKD2 Gene

No data available for DME Specific Peptides for PKD2 Gene

Domains & Families for PKD2 Gene

Gene Families for PKD2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for PKD2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50473, highly similar to Polycystin-2 (B4DFN3_HUMAN)
  • Polycystic kidney disease 2 related protein (O95814_HUMAN)
  • R48321 (PKD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13563

UniProtKB/Swiss-Prot:

PKD2_HUMAN :
  • The C-terminal coiled-coil domain is involved in oligomerization and the interaction with PKD1 (PubMed:18694932, PubMed:19556541). The isolated coiled-coil domain forms a homotrimer in vitro; the homotrimer interacts with a single PKD1 chain (PubMed:19556541). The coiled-coil domain binds calcium and undergoes a calcium-induced conformation change (in vitro) (PubMed:18694932).
  • Belongs to the polycystin family.
Domain:
  • The C-terminal coiled-coil domain is involved in oligomerization and the interaction with PKD1 (PubMed:18694932, PubMed:19556541). The isolated coiled-coil domain forms a homotrimer in vitro; the homotrimer interacts with a single PKD1 chain (PubMed:19556541). The coiled-coil domain binds calcium and undergoes a calcium-induced conformation change (in vitro) (PubMed:18694932).
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

UniProtKB/Swiss-Prot Function:
Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Can also form a functional, homotetrameric ion channel (PubMed:29899465). Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (PubMed:18695040). Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+) (PubMed:11854751, PubMed:15692563, PubMed:27071085, PubMed:27991905). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum (PubMed:11854751, PubMed:20881056). 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 to maintain the normal, differentiated state of renal tubule cells. 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 via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning. Detection of asymmetric nodal flow gives rise to a Ca(2+) signal that is required for normal, asymmetric expression of genes involved in the specification of body left-right laterality (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Channnel activity is regulated by phosphorylation (PubMed:16551655, PubMed:20881056, PubMed:26269590). Channnel activity is regulated by intracellular Ca(2+) (PubMed:11854751).
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

Phenotypes From GWAS Catalog for PKD2 Gene

Gene Ontology (GO) - Molecular Function for PKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI,IEA 16223735
GO:0005244 voltage-gated ion channel activity IDA 11854751
GO:0005245 voltage-gated calcium channel activity IDA 11252306
GO:0005248 voltage-gated sodium channel activity IMP,IDA 27071085
GO:0005249 voltage-gated potassium channel activity IMP 27071085
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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PKD2 - Now 50% OFF >
  • * PKD2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PKD2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for PKD2

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 membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Basolateral cell membrane. Cytoplasmic vesicle membrane. Golgi apparatus. Note=PKD2 localization to the plasma and ciliary membranes requires PKD1. PKD1:PKD2 interaction is required to reach the Golgi apparatus form endoplasmic reticulum and then traffic to the cilia (By similarity). Retained in the endoplasmic reticulum by interaction with PACS1 and PACS2 (PubMed:15692563). Detected on kidney tubule basolateral membranes and basal cytoplasmic vesicles (PubMed:10770959). Cell surface and cilium localization requires GANAB (PubMed:27259053). {ECO:0000250 UniProtKB:O35245, ECO:0000269 PubMed:15692563, ECO:0000269 PubMed:27259053}.

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 PKD2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endoplasmic reticulum 5
golgi apparatus 4
cytosol 3
extracellular 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PKD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002133 polycystin complex ISS,IEA --
GO:0005737 cytoplasm IMP,IEA 16311606
GO:0005783 endoplasmic reticulum IDA,IMP 16223735
GO:0005789 endoplasmic reticulum membrane IDA 11854751
GO:0005794 Golgi apparatus ISS --
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:0001889 liver development IEP,IEA 11891195
GO:0001892 embryonic placenta development ISS,IEA --
GO:0001947 heart looping IMP 21719175
genes like me logo Genes that share ontologies with PKD2: view

Drugs & Compounds for PKD2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker 57
Calcium Approved Nutra 7611
Allopurinol Approved Pharma 168
Cd<sup>2+</sup> Pharma Channel blocker, Antagonist, Pore Blocker 0
Gd<sup>3+</sup> Pharma Channel blocker, Pore Blocker, Antagonist, Activator 0

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

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

Transcripts for PKD2 Gene

mRNA/cDNA for PKD2 Gene

Unigene Clusters for PKD2 Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PKD2 - Now 50% OFF >
  • * PKD2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PKD2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for PKD2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PKD2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PKD2 Gene:

PKD2

SOURCE GeneReport for Unigene cluster for PKD2 Gene:

Hs.181272

mRNA Expression by UniProt/SwissProt for PKD2 Gene:

Q13563-PKD2_HUMAN
Tissue specificity: Detected in fetal and adult kidney (PubMed:10770959). Detected at the thick ascending limb of the loop of Henle, at distal tubules, including the distal convoluted tubule and cortical collecting tubules, with weak staining of the collecting duct (PubMed:10770959). Detected on placenta syncytiotrophoblasts (at protein level) (PubMed:26269590). Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.

Evidence on tissue expression from TISSUES for PKD2 Gene

  • Liver(4.5)
  • Kidney(3.2)
  • Nervous system(2.5)
  • Heart(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PKD2 Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
genes like me logo Genes that share expression patterns with PKD2: view

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 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia PKD2 34 35
  • 92.32 (n)
cow
(Bos Taurus)
Mammalia PKD2 34 35
  • 91.36 (n)
mouse
(Mus musculus)
Mammalia Pkd2 34 35 17
  • 85.96 (n)
rat
(Rattus norvegicus)
Mammalia Pkd2 34
  • 85.86 (n)
oppossum
(Monodelphis domestica)
Mammalia PKD2 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKD2 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PKD2 34 35
  • 76.98 (n)
lizard
(Anolis carolinensis)
Reptilia PKD2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkd2 34
  • 70.22 (n)
zebrafish
(Danio rerio)
Actinopterygii pkd2 35 34
  • 65.93 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7125 36
  • 50 (a)
Pkd2 35 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pkd-2 35 36 34
  • 50.46 (n)
OneToMany
W09C5.5 36
  • 38 (a)
Species where no ortholog for PKD2 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)
  • wheat (Triticum aestivum)

Evolution for PKD2 Gene

ENSEMBL:
Gene Tree for PKD2 (if available)
TreeFam:
Gene Tree for PKD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PKD2: view image

Paralogs for PKD2 Gene

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

  • PKD2_HUMAN
  • B4DFN3_HUMAN
  • O95814_HUMAN
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 Variation AA Info Type
rs1057518797 pathogenic, Chronic kidney disease, Hypertension, Polycystic kidney dysplasia 88,008,090(+) CCCGGGCA/TAGGACG coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1057518906 pathogenic, Polycystic kidney dysplasia 88,007,878(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs1057518969 pathogenic, Elevated diastolic blood pressure, Elevated systolic blood pressure, Polycystic kidney dysplasia 88,036,325(+) CTCT/CT 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1060503526 pathogenic, Polycystic kidney disease, autosomal dominant, not specified, not provided 88,038,380(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs10965 likely-benign, Polycystic kidney disease, autosomal dominant 88,076,931(+) G/A/T 3_prime_UTR_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv9154n54 CNV gain 21841781
dgv9155n54 CNV loss 21841781
esv25882 CNV loss 19812545
esv2658797 CNV deletion 23128226
esv2665331 CNV deletion 23128226
esv2668876 CNV deletion 23128226
esv2759266 CNV gain 17122850
esv3601294 CNV loss 21293372
esv3601295 CNV loss 21293372
nsv594797 CNV gain 21841781
nsv594800 CNV gain+loss 21841781
nsv594801 CNV gain 21841781
nsv594804 CNV gain 21841781

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)

Additional Variant Information for PKD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKD2
Human Gene Mutation Database (HGMD)
PKD2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PKD2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for PKD2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

PKD2_HUMAN
  • Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]: An autosomal dominant 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:11854751, ECO:0000269 PubMed:11968093, ECO:0000269 PubMed:12707387, ECO:0000269 PubMed:14993477, ECO:0000269 PubMed:15772804, ECO:0000269 PubMed:21115670, ECO:0000269 PubMed:27071085, ECO:0000269 PubMed:27214281, ECO:0000269 PubMed:29899465, 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)

Additional Disease Information for PKD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Stekrová J … Kohoutová M (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2004) 3 4 23 45 58
  2. [Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease]. (PMID: 19936001) Gómez PF … Romo JM (Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2009) 3 23 45 58
  3. Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro. (PMID: 16551655) Streets AJ … Ong AC (Human molecular genetics 2006) 3 4 23 58
  4. Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease. (PMID: 15717641) Chang MY … Wu Chou YH (Renal failure 2005) 3 23 45 58
  5. A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. (PMID: 16192288) Hackmann K … Gerke V (Human molecular genetics 2005) 3 4 23 58

Products for PKD2 Gene

Sources for PKD2 Gene

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