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PKD2 polycystic kidney disease 2 (autosomal dominant) [ Homo sapiens (human) ]

Gene ID: 5311, updated on 19-Jul-2014
Official Symbol
PKD2provided by HGNC
Official Full Name
polycystic kidney disease 2 (autosomal dominant)provided by HGNC
Primary source
HGNC:9009
See related
Ensembl:ENSG00000118762; HPRD:01437; MIM:173910; Vega:OTTHUMG00000160982
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PC2; PKD4; Pc-2; APKD2; TRPP2
Summary
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]
See PKD2 in Epigenomics, MapViewer
Location:
4q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (88007647..88077779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88928799..88998931)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene Neighboring gene secreted phosphoprotein 1 Neighboring gene ATP-binding cassette, sub-family G (WHITE), member 2 Neighboring gene ribosomal protein L31 pseudogene 24 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent, 1K

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Polycystic kidney disease 2
MedGen: C2751306 OMIM: 613095 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC138466, MGC138468

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
HLH domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
actinin binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-induced calcium release activity IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
muscle alpha-actinin binding IEA
Inferred from Electronic Annotation
more info
 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated sodium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
JAK-STAT cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
aorta development IEP
Inferred from Expression Pattern
more info
PubMed 
branching involved in ureteric bud morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to fluid shear stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to hydrostatic pressure IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to osmotic stress IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to reactive oxygen species NAS
Non-traceable Author Statement
more info
PubMed 
centrosome duplication NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasmic sequestering of transcription factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
detection of mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
 
detection of mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
detection of nodal flow ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of liver left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 
embryonic placenta development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development IEP
Inferred from Expression Pattern
more info
PubMed 
heart looping IMP
Inferred from Mutant Phenotype
more info
 
liver development IEP
Inferred from Expression Pattern
more info
PubMed 
mesonephric duct development IEP
Inferred from Expression Pattern
more info
PubMed 
mesonephric tubule development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric S-shaped body morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric ascending thin limb development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric cortex development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric cortical collecting duct development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric distal tubule development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric mesenchyme development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric part of ureteric bud development IEP
Inferred from Expression Pattern
more info
PubMed 
metanephric smooth muscle tissue development IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube development IEP
Inferred from Expression Pattern
more info
PubMed 
placenta blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nitric oxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cAMP metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of calcium ion import IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
release of sequestered calcium ion into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
renal artery morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
renal tubule morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
spinal cord development IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
basal cortex IDA
Inferred from Direct Assay
more info
PubMed 
basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
integral component of cytoplasmic side of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 
integral component of lumenal side of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
motile primary cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
nonmotile primary cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
polycystin complex ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
polycystin-2
Names
polycystin-2
R48321
polycystwin
autosomal dominant polycystic kidney disease type II protein
transient receptor potential cation channel, subfamily P, member 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008604.1 

    Range
    4980..75112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000297.3NP_000288.1  polycystin-2

    See proteins identical to NP_000288.1

    Status: REVIEWED

    Source sequence(s)
    AF054992, AF113693, AW600307, BC112263
    Consensus CDS
    CCDS3627.1
    UniProtKB/Swiss-Prot
    Q13563
    UniProtKB/TrEMBL
    Q9UEU6
    Related
    ENSP00000237596, OTTHUMP00000161169, ENST00000237596, OTTHUMT00000253042
    Conserved Domains (2) summary
    cd00051
    Location:732778
    Blast Score: 94
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam08016
    Location:267687
    Blast Score: 1392
    PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    88007647..88077779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_244632.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    84675256..84745398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    88905594..88975728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)