PKD2 - polycystin 2, transient receptor potential cation channel Gene
Also Known as PC2; PKD4; Pc-2; APKD2; TRPP2
Species: Homo sapiens
About PKD2
This gene has 7 transcripts (splice variants), 222 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 27.5), kidney (RPKM 19.2) and 25 other tissues.
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]
PKD2 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| XM_011532028.3 | XP_011530330.1 | polycystin-2 isoform X1 |
| NM_000297.4 | NP_000288.1 | polycystin-2 |
| XM_011532030.3 | XP_011530332.1 | polycystin-2 isoform X3 |
| XM_011532029.2 | XP_011530331.1 | polycystin-2 isoform X2 |
| NR_156488.2 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basal cortex |
IDA
IDA: Inferred from direct assay
|
10770959 | GOA |
| located in basal plasma membrane |
IDA
IDA: Inferred from direct assay
|
10770959 | GOA |
| part of cation channel complex |
IDA
IDA: Inferred from direct assay
|
30093605 | GOA |
| located in ciliary basal body |
IDA
IDA: Inferred from direct assay
|
15337773 | GOA |
| located in cilium |
IDA
IDA: Inferred from direct assay
|
28154160 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10770959 | GOA |
| located in cytoplasm |
IMP
IMP: Inferred from mutant phenotype
|
16311606 | GOA |
| located in cytoplasmic side of endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
21044049 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
10760273 | GOA |
| located in endoplasmic reticulum |
IMP
IMP: Inferred from mutant phenotype
|
16223735 | GOA |
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
11854751 | GOA |
| located in extracellular exosome |
IDA
IDA: Inferred from direct assay
|
37681898 | GOA |
| located in lamellipodium |
IDA
IDA: Inferred from direct assay
|
10760273 | GOA |
| located in lumenal side of endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
21044049 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
30093605 | GOA |
| located in migrasome |
IDA
IDA: Inferred from direct assay
|
37681898 | GOA |
| located in mitotic spindle |
IDA
IDA: Inferred from direct assay
|
15123714 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15692563 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
27071085 | GOA |
| part of polycystin complex |
IPI
IPI: Inferred from physical interaction
|
11901144 | GOA |
PKD2 Protein Structure
PKD_channel: Polycystin cation channel (268 - 687)
- 0
- 200
- 400
- 600
- 800
- 968 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polycystin-2 |
|
|
PKD2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
PKD2 | Q13563 | Trpc3 | Mus musculus | Q9QZC1 | 19812035 | |
|
Intra
|
PKD2 | Q13563 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
PKD2 | Q13563 | MAGEA8 | Homo sapiens | P43361 | 25416956 | |
|
Intra
|
PKD2 | Q13563 | MAGEA8 | Homo sapiens | P43361 | 29892012 | |
|
Intra
|
PKD2 | Q13563 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | PKD1 | Homo sapiens | P98161 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD1 | Homo sapiens | P98161 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD1 | Homo sapiens | P98161 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD1 | Homo sapiens | P98161 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD1 | Homo sapiens | P98161-1 | 30093605 | |
|
Intra
|
PKD2 | Q13563 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Cross
|
PKD2 | Q13563 | Hax1 | Mus musculus | O35387 | 10760273 | |
|
Cross
|
PKD2 | Q13563 | Hax1 | Mus musculus | O35387 | 10760273 | |
|
Cross
|
PKD2 | Q13563 | Trpv4 | Mus musculus | Q9EPK8 | 25114176 | |
|
Cross
|
PKD2 | Q13563 | Trpv4 | Mus musculus | Q9EPK8 | 25114176 | |
|
Intra
|
PKD2 | Q13563 | HSF2BP | Homo sapiens | O75031 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | HSF2BP | Homo sapiens | O75031 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | ID2 | Homo sapiens | Q02363 | 16311606 | |
|
Intra
|
PKD2 | Q13563 | ID2 | Homo sapiens | Q02363 | 16311606 | |
|
Intra
|
PKD2 | Q13563 | ID2 | Homo sapiens | Q02363 | 16311606 | |
|
Intra
|
PKD2 | Q13563 | MDFI | Homo sapiens | Q99750 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | MDFI | Homo sapiens | Q99750 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | MDFI | Homo sapiens | Q99750 | 32296183 | |
|
Intra
|
PKD2 | Q13563 | PLSCR1 | Homo sapiens | O15162 | 25416956 | |
|
Intra
|
PKD2 | Q13563 | TRPC1 | Homo sapiens | P48995 | 25114176 | |
|
Intra
|
PKD2 | Q13563 | TRPC1 | Homo sapiens | P48995 | 25114176 | |
|
Intra
|
PKD2 | Q13563 | TRPC1 | Homo sapiens | P48995 | 10097141 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 27768895 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 27768895 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 20168298 | |
|
Intra
|
PKD2 | Q13563 | PKD2 | Homo sapiens | Q13563 | 28092368 | |
|
Intra
|
PKD2 | Q13563 | TRPC1 | Homo sapiens | P48995-2 | 10097141 | |
|
Intra
|
PKD2 | Q13563 | TRPC1 | Homo sapiens | P48995-2 | 10097141 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Nephronophthisis 3 |
|
|
| Visceral Heterotaxy |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
|
| Polycystic Kidney Disease |
|
|
| Joubert Syndrome 1 |
|
|
| Orthostatic Intolerance |
|
|
| Fundus Dystrophy |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Parastremmatic Dwarfism |
|
|
| Polycystic Liver Disease |
|
|
| Chronic Kidney Disease |
|
|
| Cystic Kidney Disease |
|
|
| End Stage Renal Disease |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
|
| Kartagener Syndrome |
|
|
| Nephronophthisis |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Caroli Disease |
|
|
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
|
| Hypertension, Essential |
|
|
| Bardet-Biedl Syndrome |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Multicystic Dysplastic Kidney |
|
|
| Cerebral Cavernous Malformations |
|
|
| Situs Inversus |
|
|
| Kidney Disease |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Autosomal Genetic Disease |
|
|
| Cranioectodermal Dysplasia |
|
|
| Prostatic Cyst |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Gout |
|
|
| Liver Disease |
|
|
| Septal Myocardial Infarction |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Mucolipidosis Iv |
|
|
| Retinitis Pigmentosa |
|
|
| Cerebral Arterial Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PKD2 | RGD | RGD:1559992 |
| Macaca mulatta | PKD2 | VGNC | VGNC:100262 |
| Canis familiaris | PKD2 | VGNC | VGNC:44600 |
| Felis catus | PKD2 | VGNC | VGNC:68871 |
| Bos taurus | PKD2 | VGNC | VGNC:32935 |
| Mus musculus | PKD2 | MGD | MGI:1099818 |
| Others | PKD2 | NCBI |