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


RefSeq Accession Definition Sequence Price Select
NM_000297 Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. Full Length $2290.05
ORF Sequence $843.03


Gene Symbol PKD2
Entrez Gene ID 5311
Full Name polycystic kidney disease 2 (autosomal dominant)
Synonyms APKD2, MGC138466, MGC138468, PC2, PKD4, Pc-2, TRPP2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4q22.1
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].
Disorder

MIM: 173910

Polycystic kidney disease 2, 613095 (3)
mRNA NM_000297, 325121002
Protein NP_000288, 4505835
Product polycystin-2
RefSeq Status REVIEWED
Homo sapiens (human)PKD2NP_000288.1
Canis lupus familiaris (dog)PKD2XP_544974.2
Bos taurus (cattle)PKD2NP_001039777.1
Mus musculus (house mouse)Pkd2NP_032887.2
Rattus norvegicus (Norway rat)Pkd2XP_573552.2
Gallus gallus (chicken)PKD2NP_001026311.1
Danio rerio (zebrafish)pkd2NP_001002310.1
Caenorhabditis eleganspkd-2NP_502838.3
Process
IDNameEvidence
GO:0001822kidney developmentIEA
GO:0001892embryonic placenta developmentIEA
GO:0006811ion transportIEA
GO:0006874cellular calcium ion homeostasisIEA
GO:0007050cell cycle arrestIEA
GO:0007259JAK-STAT cascadeIEA
GO:0007368determination of left/right symmetryIEA
GO:0007507heart developmentIEA
GO:0030814regulation of cAMP metabolic processIEA
GO:0050982detection of mechanical stimulusIEA
GO:0051209release of sequestered calcium ion into cytosolIEA
GO:0060315negative regulation of ryanodine-sensitive calcium-release channel activityIEA
Component
IDNameEvidence
GO:0002133polycystin complexIEA
GO:0005737cytoplasmIDA
GO:0005783endoplasmic reticulumIDA
GO:0005886plasma membraneIEA
GO:0005929ciliumIEA
GO:0005932microtubule basal bodyIDA
GO:0009925basal plasma membraneIDA
GO:0016021integral to membraneISS
GO:0030027lamellipodiumIDA
GO:0031512motile primary ciliumIEA
GO:0031513nonmotile primary ciliumIEA
GO:0045180basal cortexIDA
Function
IDNameEvidence
GO:0005102receptor bindingIEA
GO:0005216ion channel activityIEA
GO:0005247voltage-gated chloride channel activityISS
GO:0005248voltage-gated sodium channel activityISS
GO:0005262calcium channel activityIEA
GO:0005267potassium channel activityIEA
GO:0005509calcium ion bindingISS
GO:0005515protein bindingIPI
GO:0008092cytoskeletal protein bindingIDA
GO:0015267channel activityIEA
GO:0051117ATPase bindingIEA
GeneCards PKD2
PDB 2KQ6, 2KLE, 2KLD, 3HRO, 3HRN
UniProt Q13563, Q9UEU6
MIM 173910
Ensembl ENSG00000118762
HGNC 9009
HPRD 01437

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