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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 morphogen... See more...
Aliases for PKD2 Gene
Aliases for PKD2 Gene
External Ids for PKD2 Gene
- HGNC: 9009
- NCBI Entrez Gene: 5311
- Ensembl: ENSG00000118762
- OMIM®: 173910
- UniProtKB/Swiss-Prot: Q13563
Previous GeneCards Identifiers for PKD2 Gene
- GC04P089086
- GC04P089230
- GC04P089387
- GC04P089285
- GC04P089147
- GC04P088929
- GC04P084675
Summaries 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 Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. 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 Summary 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).
Additional gene information for PKD2 Gene
- HGNC (9009)
- NCBI Entrez Gene (5311)
- Ensembl (ENSG00000118762)
- OMIM® (173910)
- UniProtKB/Swiss-Prot (Q13563)
- Open Targets Platform(ENSG00000118762)
- Monarch Initiative
- Search for PKD2 at DataMed
- Search for PKD2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKD2 Gene
Genomics for PKD2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PKD2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKD2
- 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
Latest Assembly
- chr4:88,007,635-88,077,779
- (GRCh38/hg38)
- Size:
- 70,145 bases
- Orientation:
- Plus strand
Previous Assembly
- chr4:88,928,787-88,998,929
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 70,143 bases
- Orientation:
- Plus strand
- chr4:88,928,820-88,998,929
- (GRCh37/hg19 by Ensembl)
- Size:
- 70,110 bases
- Orientation:
- Plus strand
Genomic View for PKD2 Gene
Genes around PKD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.1 by HGNC
- 4q22.1 by Entrez Gene
- 4q22.1 by Ensembl
PKD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- [Isoform 5]: Minor isoform.
Three dimensional structures from OCA and Proteopedia for PKD2 Gene
Protein Expression 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 Asn299, Asn305, Asn328, Asn362, and Asn375
- NX_Q13563 (NX_Q13563-1)
- Modification sites at PhosphoSitePlus
Other Protein References for PKD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ Phospho-PKD2(Ser812) Antibody and Immunotag™ PKD2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for PKD2
- Novus Biologicals Antibodies for PKD2
-
Abcam antibodies for PKD2
- Invitrogen Antibodies for PKD2 (AFLGC-PKD2)
- antibodies-online: Show 82 available PKD2 Antibodies ranked by validation data
- Compare Top PKD2 Antibodies
-
Recommended
- 67 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IF Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 53 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IF Antibodies (anti-mouse)
- 2 IF/ICC Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 28 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IF Antibodies (anti-rat)
- 2 IF/ICC Antibodies (anti-rat)
-
Biorbyt antibodies for PKD2
-
Boster Bio Antibodies for PKD2
-
Santa Cruz Biotechnology (SCBT) Antibodies for PKD2
- Sino Biological Antibodies for PKD2
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PKD2
- Origene Custom Protein Services for PKD2
- Novus Biologicals proteins for PKD2
-
Abcam proteins for PKD2
Assay products for research
- G Biosciences Immunotag™ Human PKD2 (Polycystin-2) ELISA and Immunotag™ Polycystin-2 ELISA Kit
- antibodies-online: Show 14 available PKD2 Elisa Kits ranked by validation data
- Compare Top PKD2 Elisa Kits
-
Quality Products:
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
Protein Domains for PKD2 Gene
- InterPro:
- Blocks:
-
- Polycystic kidney disease type 2 protein (PKD2) signature
- ProtoNet:
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
Q13563UniProtKB/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.
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:
- Channel activity is regulated by phosphorylation (PubMed:16551655, PubMed:20881056, PubMed:26269590). Channel 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IEA,IPI | 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 | IDA,IMP | 27071085 |
| GO:0005249 | voltage-gated potassium channel activity | IMP | 27071085 |
Phenotypes for PKD2 Gene
- MGI mutant phenotypes for PKD2:
-
inferred from 12 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for PKD2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance
- Increased IL-8 secretion
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased HPV16-GFP infection
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Increased cell migration
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased peripheral FA formation, increased cell spreading
- Decreased viability in colon lineage; decreased viability in esophageal squamous lineage; decreased viability in pancreas lineage
Animal Models for PKD2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PKD2 - Starting at $85 >
- * PKD2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PKD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PKD2
miRNA for PKD2 Gene
- miRTarBase miRNAs that target PKD2
-
- hsa-miR-17-5p (MIRT001158)
- mmu-miR-340-5p (MIRT010491)
- hsa-miR-106b-5p (MIRT020485)
- hsa-miR-93-5p (MIRT028086)
- hsa-miR-26b-5p (MIRT029117)
- hsa-miR-21-5p (MIRT030759)
- mmu-miR-1896 (MIRT597817)
- mmu-miR-129-2-3p (MIRT597818)
- mmu-miR-129-1-3p (MIRT597819)
- mmu-miR-3064-5p (MIRT597820)
- mmu-miR-3085-3p (MIRT597821)
- mmu-miR-3083-5p (MIRT597822)
- mmu-miR-3473b (MIRT597823)
- mmu-miR-3110-5p (MIRT601853)
- mmu-miR-5125 (MIRT601854)
- mmu-miR-150-5p (MIRT601855)
- mmu-miR-5127 (MIRT601856)
- mmu-miR-1186b (MIRT601857)
- mmu-miR-3094-5p (MIRT601858)
- mmu-miR-1971 (MIRT603597)
- mmu-miR-1981-5p (MIRT603598)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PKD2
- Browse OriGene Inhibitory RNA Products For PKD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD2
Clone products for research
- Applied Biological Materials (abm): Clones for PKD2 - Starting at $45 >
- * PKD2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PKD2
- Addgene plasmids for PKD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD2
Cell Lines for research
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| endoplasmic reticulum | 5 |
| extracellular | 4 |
| golgi apparatus | 4 |
| cytosol | 3 |
| nucleus | 2 |
| endosome | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002133 | polycystin complex | IEA,ISS | -- |
| GO:0005737 | cytoplasm | IEA,IMP | 16311606 |
| GO:0005783 | endoplasmic reticulum | IDA,IMP | 16223735 |
| GO:0005789 | endoplasmic reticulum membrane | IDA | 11854751 |
| GO:0005794 | Golgi apparatus | ISS | -- |
Pathways & Interactions for PKD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cargo trafficking to the periciliary membrane | ||
| 2 | Organelle biogenesis and maintenance |
.56
|
|
Pathways by source for PKD2 Gene
4 Reactome pathways for PKD2 Gene
Interacting Proteins for PKD2 Gene
Selected Interacting proteins:
ENSP00000237596
Q13563-PKD2_HUMAN
for PKD2 Gene via
STRING
MINT
UniProtKB
IID
GPS-Prot Interaction Network for PKD2
| 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 | IEA,IEP | 11891195 |
| GO:0001892 | embryonic placenta development | IEA,ISS | -- |
| GO:0001947 | heart looping | IMP | 21719175 |
Drugs & Compounds for PKD2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Amiloride | Approved | Pharma | Channel blocker, blocker | 61 | ||
| Allopurinol | Approved | Pharma | 182 | |||
| Cd<sup>2+</sup> | Pharma | Pore Blocker | 0 | |||
| Gd<sup>3+</sup> | Pharma | Channel blocker, Pore Blocker | 0 | |||
| La<sup>3+</sup> | Pharma | Channel blocker, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Ca<sub>i</sub><sup>2+</sup> |
|
Activator |
|
Transcripts for PKD2 Gene
mRNA/cDNA for PKD2 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000237596 5089 nts (view in UCSC)
- ENST00000502363 1222 nts (view in UCSC)
- ENST00000506367 693 nts (view in UCSC)
- ENST00000506727 550 nts (view in UCSC)
- ENST00000508588 1720 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PKD2 - Starting at $85 >
- * PKD2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PKD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PKD2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PKD2
- Browse OriGene Inhibitory RNA Products For PKD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD2
Clone products for research
- Applied Biological Materials (abm): Clones for PKD2 - Starting at $45 >
- * PKD2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PKD2
- Addgene plasmids for PKD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD2
| 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
Expression 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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKD2
SOURCE GeneReport for Unigene cluster for PKD2 Gene:
Hs.181272mRNA 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(2.8)
- Heart(2.6)
- Muscle(2.5)
- Pancreas(2.2)
- Lung(2.1)
- Skin(2.1)
- Eye(2.1)
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
Primer products for research
-
OriGene qPCR primer pairs for PKD2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PKD2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PKD2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PKD2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pkd2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pkd2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PKD2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PKD2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PKD2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PKD2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pkd2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pkd2 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG7125 32 |
|
|
|
| Pkd2 31 32 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | pkd-2 30 31 32 |
|
OneToMany | |
| W09C5.5 32 |
|
|
- Species where no ortholog for PKD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for PKD2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKD2 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 836727 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,075,624(+) |
C/T NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 837907 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,058,072(+) |
C/T NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) |
MISSENSE | |
| 838482 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,008,287(+) |
C/G NM_000297.4(PKD2):c.554C>G (p.Pro185Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 838483 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,008,328(+) |
G/A NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 849237 | Uncertain Significance: Autosomal dominant polycystic kidney disease | 88,008,108(+) |
G/GGCCGCCTCCTCGG
NM_000297.4(PKD2):c.377_400dup (p.Ala126_Ser133dup) |
NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD2 Gene
Disorders for PKD2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polycystic kidney disease 2 with or without polycystic liver disease |
|
|
| autosomal dominant polycystic kidney disease |
|
|
| polycystic kidney disease 1 with or without polycystic liver disease |
|
|
| multicystic dysplastic kidney |
|
|
| polycystic kidney disease |
|
|
Search PKD2 in MalaCards
View complete list of genes associated with diseases
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 variants 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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
Publications for PKD2 Gene
- 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 41
- [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 41
- Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1. (PMID: 17303584) Tazón-Vega B … Torra R (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007) 3 23 41
- 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
- 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
ExternalLinks
Products for PKD2 Gene
- Custom Antibody ServicesOriGene Antibodies for PKD2
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Origene Custom Protein Services for PKD2
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- OriGene qPCR primer pairs for PKD2
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- Sino Biological Human cDNA Clone for PKD2
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for PKD2
- Novus Biologicals proteins for PKD2
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- Invitrogen Antibodies for PKD2 (AFLGC-PKD2)
- VectorBuilder Custom and pre-made DNA vectors for PKD2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PKD2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PKD2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PKD2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PKD2
- Addgene plasmids for PKD2
- antibodies-online: Show 82 available PKD2 Antibodies ranked by validation data
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- 67 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 IF Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IP Antibody (anti-human)
- 53 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IF Antibodies (anti-mouse)
- 2 IF/ICC Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 28 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IF Antibodies (anti-rat)
- 2 IF/ICC Antibodies (anti-rat)
- antibodies-online: Show 14 available PKD2 Elisa Kits ranked by validation data
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- Quality Products:
- antibodies-online: Show 15 available PKD2 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for PKD2
- Search Santa Cruz Biotechnology (SCBT) for PKD2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PKD2
- Horizon Cell Lines for PKD2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PKD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD2
- Boster Bio Antibodies for PKD2
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for PKD2
Sources for PKD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB