PKD2 Gene
protein-coding GIFtS: 66
GCID: GC04P088929
|
|
polycystic kidney disease 2 (autosomal dominant)
| |
Aliases for PKD2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Polycystic Kidney Disease 2 (Autosomal Dominant)1 2 | | APKD22 | | PC21 2 | | Polycystin-21 | | PKD41 2 | | Polycystwin3 | | Pc-21 2 | | Transient Receptor Potential Cation Channel, Subfamily P, Member 22 | | TRPP21 2 | | Polycystwin3 | | Autosomal Dominant Polycystic Kidney Disease Type II Protein2 3 | | Polycystic Kidney Disease 2 Protein3 | | R483212 3 | | |
Export aliases for PKD2 gene to outside databasesPrevious GC identifers: GC04P089086 GC04P089230 GC04P089387 GC04P089285 GC04P089147 GC04P084675 |
Summaries for PKD2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for PKD2: This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein thatfunctions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renalepithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascadeinvolved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidneydisease type 2. (provided by RefSeq, Mar 2011) UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563Function: Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1 andPKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By similarity). Actsas a regulator of cilium length, together with PKD1 (By similarity). The dynamic control of cilium length is essentialin the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loopwhereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to ciliumshortening and thus decreases flow-induced signaling (By similarity). Functions as a calcium permeable cation channel Gene Wiki entry for PKD2 (Polycystic kidney disease 2)
|
Genomic Views for PKD2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_016354.19
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PKD2 gene promoter: AML1a AP-1 ATF-2 MyoD NF-kappaB HEN1 c-Jun Pax-4a NF-kappaB1 Other transcription factors
Search SABiosciences Chromatin IP Primers for PKD2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD2 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q22.1 Ensembl cytogenetic band: 4q22.1 HGNC cytogenetic band: 4q22.1PKD2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P088929: view genomic region
(about GC identifiers)
Start:
|
88,928,820 bp from pter |
End:
|
88,998,929 bp from pter |
Size:
|
70,110 bases |
Orientation:
|
plus strand |
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Proteins for PKD2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563 (See
protein sequence)Recommended Name: Polycystin-2 Size: 968 amino acids; 109691 Da
Subunit: Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). PKD1 requires thepresence of PKD2 for stable expression. Interacts with CD2AP. Interacts with HAX1. Interacts with NEK8 (Bysimilarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum. Cell projection, cilium(By similarity)
6 PDB 3D structures from and Proteopedia for PKD2:2KLD (3D)
  2KLE (3D)
  2KQ6 (3D)
  2Y4Q (3D)
  3HRN (3D)
  3HRO (3D)
 
Secondary accessions: O60441 Q15764 Q2M1Q3 Q2M1Q5Alternative splicing: 5 isoforms: Q13563-1 Q13563-2 Q13563-3 Q13563-4 Q13563-5 (Minor isoform)Explore the universe of human proteins at neXtProt for PKD2: NX_Q13563
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13563 PKD2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000288.1 ENSEMBL proteins: ENSP00000237596 ENSP00000427131 ENSP00000425289 Human Recombinant Protein Products:
Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20): About this table
PKD2 for ontologies About GeneDecksing
PKD2 Antibody Products: Assay Products for PKD2: |
Protein
Domains / Families for PKD2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PKD2 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q13563ProtoNet protein and cluster: Q13563 1 Blocks protein family: IPB003915 Polycystic kidney disease type 2 protein (PKD2) signature
UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563Domain: The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It isimplicated in oligomerization and the interaction with PKD1Similarity: Belongs to the polycystin familySimilarity: Contains 1 EF-hand domain |
Function for PKD2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563Function: Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1 andPKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By similarity). Actsas a regulator of cilium length, together with PKD1 (By similarity). The dynamic control of cilium length is essentialin the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loopwhereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to ciliumshortening and thus decreases flow-induced signaling (By similarity). Functions as a calcium permeable cation channel Genatlas biochemistry entry for PKD2:polycystin 2,integral membrane protein,with some homology with PKD1 and TRPC1,C elegans ZK9459,and the family ofvoltage gated Ca+ channels,ubiquitously expressed,involved in regulating ion transport
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD2 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PKD2 (NM_000297) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PKD2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKD2  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2 |
Gene Ontology (GO): 5/18 molecular function terms (GO ID links to tree view) (see all 18): About this table
PKD2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PKD2: Animal Models: Mouse knock-outs for PKD2: Pkd2tm1Som Pkd2tm1.2Tjwt Pkd2tm2Som 14 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Pkd2):
PKD2 for phenotypes About GeneDecksing
|
Pathways & Interactions for PKD2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Calcium channels | | | 2 | Selected targets of HNF1 | |
Pathway sources See GeneCards unified pathways Show all pathways
2 EMD Millipore Pathways for PKD2
PKD2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKD2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)
 5/21 Interacting proteins for PKD2 (Q135632, 3 ENSP000002375964) via UniProtKB, MINT, STRING, and/or I2D (see all 21)About this table
Gene Ontology (GO): 5/52 biological process terms (GO ID links to tree view) (see all 52): About this table
PKD2 for ontologies About GeneDecksing
|
Drugs & Compounds for PKD2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PKD2 for compounds About GeneDecksing
Browse Tocris compounds for PKD2
1 HMDB Compound for PKD2 About this table 6 Novoseek chemical compound relationships for PKD2 gene About this table
Search CenterWatch for drugs/clinical trials and news about PKD2 
|
Transcripts for PKD2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for PKD2 gene: NM_000297.3 Unigene Cluster for PKD2: Polycystic kidney disease 2 (autosomal dominant) Hs.181272 [show with all ESTs]Unigene Representative Sequence: NM_0002977 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000237596(uc003hre.3 uc011cdf.2 uc011cdg.2 uc011cdh.2) ENST00000506727 ENST00000506367 ENST00000508588 ENST00000511337 ENST00000512858 ENST00000502363
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD2 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PKD2 (NM_000297) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PKD2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKD2  |
Additional cDNA sequence: AF054992.1 AF113693.1 AK293461.1 AK294173.1 BC112261.1 BC112263.1 U50928.1 U56813.1 4 DOTS entries: DT.216427 DT.100676422 DT.102828651 DT.91683947 24/141 AceView cDNA sequences (see all 141): BP372674 AI347615 BQ959129 NM_000297 AW027837 CA417804 BG897537 BM756445 AI307223 AI078766 CD679148 AA232889 AW069616 AA987851 BM760937 BE645879 BU683371 AW338910 AI090067 AA749414 CD251213 AI085614 CA446398 BQ574566 GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for PKD2 About this scheme
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for PKD2
|
Expression for PKD2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PKD2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GAGAACTCCC
About this image See PKD2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PKD2
SOURCE GeneReport for Unigene cluster: Hs.181272 UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563Tissue specificity: Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected inperipheral leukocytes SABiosciences Expression via Pathway-Focused PCR Arrays including PKD2:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKD2 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PKD2 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKD2 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKD2 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2 |
Orthologs for PKD2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for PKD2 gene from 5/19 species (see all 19) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
PKD21 |
polycystic kidney disease 2 (autosomal dominant) |
77.29(n) 81.65(a) |
  |
422585 NM_001031140.1 NP_001026311.1 |
lizard (Anolis carolinensis) |
Reptilia |
PKD26 |
-- |
71(a) |
1 ↔ 1 |
5(45597670-45614616) |
zebrafish (Danio rerio) |
Actinopterygii |
pkd21 |
polycystic kidney disease 2 |
66.22(n) 68.16(a) |
  |
432387 NM_001002310.1 NP_001002310.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG71253 |
protein amino acid phosphorylation protein serine/threonine more |
50(a) (best of 2) |
  |
91A2 -- |
worm (Caenorhabditis elegans) |
Secernentea |
W09C5.53 pkd-21 |
Phorbol esters/diacylglycerol binding domain (C1 more3 Protein PKD-21 |
38(a) (best of 2)3 50.16(n)1 39.1(a)1 |
  |
I(13648484-13656446)3 1784241 NM_070437.31 NP_502838.31 |
ENSEMBL Gene Tree for PKD2 (if available) TreeFam Gene Tree for PKD2 (if available)  |
Paralogs for PKD2 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for PKD2 gene
- NPIPP12 PKDREJ2 PKD12 PKD2L22 PKD2L12 PKD1L12
2 SIMAP similar genes for PKD2 using alignment to 3 protein entries: PKD2_HUMAN (see all proteins):PKD2L1 PKD2L2
PKD2 for paralogs About GeneDecksing
|
Genomic Variants for PKD2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
| Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for PKD2 2 CNVs: 2536 3501 1 Indel: 68758 Human Gene Mutation Database (HGMD): PKD2
Locus Specific Mutation Databases (LSDB): PKD2
 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases for PKD2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PKD2 for disorders About GeneDecksing
OMIM gene information: 173910 OMIM disorders: 613095 UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563
Defects in PKD2 are the cause of polycystic kidney disease 2 (PKD2) [MIM:613095]. PKD2 is a disordercharacterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renaldisease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the casesof autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impacton overall life expectancy 20/26 diseases for PKD2 (see all 26): About MalaCardspolycystic kidney disease kidney disease polycystic kidney disease 2, autosomal dominant polycystic kidney disease 2 polycystic kidney disease, autosomal dominant autosomal dominant disease intracranial aneurysm situs inversus polycystic liver disease cystic kidney liver disease mucolipidosis retinal degeneration cystic fibrosis squamous cell carcinoma gout fibrosis retinitis gastric cancer nephropathy
4 diseases from the University of Copenhagen DISEASES database for PKD2:Polycystic kidney disease Cystic kidney Polycystic liver disease Situs inversus 10/18 Novoseek disease relationships for PKD2 gene (see all 18) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adpkd |
97.6 |
215 |
17100995 (5), 11007674 (5), 19098310 (3), 10411676 (3) (see all 99) |
| polycystic kidney diseases |
93.4 |
34 |
15300626 (2), 11195048 (2), 9175744 (2), 10541293 (1) (see all 27) |
| polycystic kidney type 2 autosomal dominant disease |
90.9 |
3 |
15300626 (2), 16135816 (1) |
| renal cyst |
88.4 |
20 |
9568711 (2), 12140187 (2), 10417277 (2), 10655555 (1) (see all 15) |
| arpkd |
88.2 |
13 |
15029248 (2), 10200981 (1), 11981261 (1), 18235088 (1) (see all 9) |
| polycystic liver disease |
82.5 |
2 |
16294159 (1), 19766642 (1) |
| medullary cystic kidney |
79.8 |
1 |
16207829 (1) |
| cystic kidney disease |
77.8 |
5 |
16207829 (2), 15029248 (1), 10362797 (1), 17217069 (1) |
| cysts |
76.9 |
40 |
12140187 (3), 19098310 (3), 10362797 (3), 16720597 (3) (see all 23) |
| somatic mutations |
62.7 |
13 |
10655555 (2), 10835625 (2), 9949210 (2), 12028433 (1) (see all 8) |
Genatlas disease: PKD2 polycystic kidney disease 2,adult type,autosomal dominant,similar to PKD1 with cen average better prognosis,occuringby a cellular recessive mechanism supporting a two-hit model for cyst formation (somatic mutation in the cysts) GeneTests: PKD2 Polycystic Kidney Disease, Autosomal Dominant Genetic Association Database (GAD): PKD2 Human Genome Epidemiology (HuGE) Navigator: PKD2 (17 documents) Export disorders for PKD2 gene to outside databases
|
Publications for PKD2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PKD2 gene, integrated from 9 sources (see all 270): (articles sorted by number of sources associating them with PKD2) | |  | Utopia: connect your pdf to the dynamic world of online information |
- PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. (PubMed id 14993477)1, 2, 4, 9 Stekrova J.... Kohoutova M. (2004)
- The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. (PubMed id 10760273)1, 2, 9 Gallagher A.R.... Witzgall R. (2000)
- Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease. (PubMed id 15717641)1, 4, 9 Chang M.Y....Wu Chou Y.H. (2005)
- Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). (PubMed id 9286709)1, 2, 9 Hayashi T.... Somlo S. (1997)
- A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. (PubMed id 16192288)1, 2, 9 Hackmann K....Gerke V. (2005)
- Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. (PubMed id 10411676)1, 2, 9 Torra R.... San Millan J.L. (1999)
- Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. (PubMed id 12707387)1, 2, 9 Magistroni R....Pei Y. (2003)
- Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. (PubMed id 10541293)1, 2, 9 Reynolds D.M.... Somlo S. (1999)
- Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. (PubMed id 10835625)1, 2, 9 Watnick T.J.... Pei Y. (2000)
- A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2. (PubMed id 8954772)1, 2, 9 Schneider M.C.... Weremowicz S. (1996)
|
External Searches for PKD2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PKD2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PKD2 gene
(According to HUGE)
About This Section
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Specialized Databases showing PKD2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for PKD2 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for PKD2 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD2 | | Functional Glycomics Gateway - Glycan Binding | http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_205 |
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About This Section
| Patent Information for PKD2 gene: Search GeneIP for patents involving PKD2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for PKD2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | OriGene Antibodies for PKD2 | | OriGene shRNA RFP for PKD2 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKD2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKD2 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for PKD2 | | OriGene 3'-UTR Clone for PKD2 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD2 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for PKD2 | | OriGene Custom Protein Services for PKD2 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PKD2 | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKD2 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD2 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKD2 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKD2 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKD2 |
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| | | Search Tocris compounds for PKD2 |
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 | | PKD2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2 |
|  |  |  | | | ThermoFisher Antibodies for PKD2 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PKD2 |
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