ENSG00000118762


Homo sapiens

Features
Gene ID: ENSG00000118762
  
Biological name :PKD2
  
Synonyms : PKD2 / polycystin 2, transient receptor potential cation channel / Q13563
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q22.1
Gene start: 88007668
Gene end: 88077777
  
Corresponding Affymetrix probe sets: 203688_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000427131
Ensembl peptide - ENSP00000237596
Ensembl peptide - ENSP00000425289
NCBI entrez gene - 5311     See in Manteia.
OMIM - 173910
RefSeq - XM_011532030
RefSeq - NM_000297
RefSeq - XM_011532028
RefSeq - XM_011532029
RefSeq Peptide - NP_000288
swissprot - B4DFN3
swissprot - Q13563
Ensembl - ENSG00000118762
  
Related genetic diseases (OMIM): 613095 - Polycystic kidney disease 2, 613095
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pkd2ENSDARG00000014098Danio rerio
 PKD2ENSGALG00000010921Gallus gallus
 Pkd2ENSMUSG00000034462Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PKD2L1 / Q9P0L9 / polycystin 2 like 1, transient receptor potential cation channelENSG0000010759341
PKD2L2 / Q9NZM6 / polycystin 2 like 2, transient receptor potential cation channelENSG0000007879530
PKD1 / P98161 / polycystin 1, transient receptor potential channel interactingENSG0000000871016
PKD1L1 / Q8TDX9 / polycystin 1 like 1, transient receptor potential channel interactingENSG0000015868314
PKDREJ / Q9NTG1 / polycystin family receptor for egg jellyENSG0000013094314
PKD1L3 / Q7Z443 / polycystin 1 like 3, transient receptor potential channel interactingENSG0000027748110
PKD1L2 / Q7Z442 / polycystin 1 like 2 (gene/pseudogene)ENSG000001664731


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR003915  Polycystic kidney disease type 2 protein
 IPR011992  EF-hand domain pair
 IPR013122  Polycystin cation channel, PKD1/PKD2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IEP
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001892 embryonic placenta development IEA
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003127 detection of nodal flow IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006816 calcium ion transport ISS
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0007050 cell cycle arrest IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007259 JAK-STAT cascade IEA
 biological_processGO:0007368 determination of left/right symmetry IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008285 negative regulation of cell proliferation NAS
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0021510 spinal cord development IEP
 biological_processGO:0021915 neural tube development IEP
 biological_processGO:0030814 obsolete regulation of cAMP metabolic process IEA
 biological_processGO:0031587 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IMP
 biological_processGO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IDA
 biological_processGO:0034614 cellular response to reactive oxygen species NAS
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035502 metanephric part of ureteric bud development IEP
 biological_processGO:0035725 sodium ion transmembrane transport IDA
 biological_processGO:0035904 aorta development IEP
 biological_processGO:0042127 regulation of cell proliferation IMP
 biological_processGO:0042994 cytoplasmic sequestering of transcription factor IMP
 biological_processGO:0045429 positive regulation of nitric oxide biosynthetic process IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0050982 detection of mechanical stimulus IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051289 protein homotetramerization IDA
 biological_processGO:0051298 centrosome duplication NAS
 biological_processGO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity IEA
 biological_processGO:0060674 placenta blood vessel development IEA
 biological_processGO:0061333 renal tubule morphogenesis IEA
 biological_processGO:0061441 renal artery morphogenesis IEP
 biological_processGO:0070588 calcium ion transmembrane transport IDA
 biological_processGO:0071158 positive regulation of cell cycle arrest IMP
 biological_processGO:0071277 cellular response to calcium ion IEA
 biological_processGO:0071320 cellular response to cAMP IMP
 biological_processGO:0071464 cellular response to hydrostatic pressure IDA
 biological_processGO:0071470 cellular response to osmotic stress IDA
 biological_processGO:0071498 cellular response to fluid shear stress IMP
 biological_processGO:0071805 potassium ion transmembrane transport ISS
 biological_processGO:0071910 determination of liver left/right asymmetry IMP
 biological_processGO:0072001 renal system development IEA
 biological_processGO:0072075 metanephric mesenchyme development IEP
 biological_processGO:0072164 mesonephric tubule development IEP
 biological_processGO:0072177 mesonephric duct development IEP
 biological_processGO:0072208 metanephric smooth muscle tissue development IEP
 biological_processGO:0072214 metanephric cortex development IEP
 biological_processGO:0072218 metanephric ascending thin limb development IEP
 biological_processGO:0072219 metanephric cortical collecting duct development IEP
 biological_processGO:0072235 metanephric distal tubule development IEP
 biological_processGO:0072284 metanephric S-shaped body morphogenesis IEP
 biological_processGO:0090279 regulation of calcium ion import IDA
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IMP
 cellular_componentGO:0002133 polycystin complex IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IMP
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005929 cilium ISS
 cellular_componentGO:0009925 basal plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0031941 filamentous actin IDA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045180 basal cortex IDA
 cellular_componentGO:0060170 ciliary membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071458 integral component of cytoplasmic side of endoplasmic reticulum membrane IDA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane IDA
 cellular_componentGO:0072686 mitotic spindle IEA
 cellular_componentGO:0097730 non-motile cilium IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IDA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IDA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IDA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IMP
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005267 potassium channel activity ISS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IDA
 molecular_functionGO:0015267 channel activity IEA
 molecular_functionGO:0015271 outward rectifier potassium channel activity IEA
 molecular_functionGO:0022843 voltage-gated cation channel activity IDA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0042805 actinin binding IDA
 molecular_functionGO:0043398 HLH domain binding IPI
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048763 calcium-induced calcium release activity IDA
 molecular_functionGO:0051117 ATPase binding IEA
 molecular_functionGO:0051219 phosphoprotein binding IPI
 molecular_functionGO:0051371 muscle alpha-actinin binding IEA
 molecular_functionGO:0051393 alpha-actinin binding IEA


Pathways (from Reactome)
Pathway description
VxPx cargo-targeting to cilium


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000113 Polycystic kidney 
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 HP:0000324 Facial asymmetry 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001407 Hepatic cysts 
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0003259 Increased creatinine 
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 HP:0003676 Progressive disorder 
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 HP:0003774 End stage renal disease 
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 HP:0003829 Incomplete penetrance 
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 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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