LP36725-7
PKD2 gene
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Descriptions
Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.
Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.
This gene encodes a member of the polycystin protein family, called TRPP1, previously known as polycystin-2, PC2 or APKD2. TRPP1 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP1 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homoeostasis and other signal transduction pathways. This protein interacts with polycystin 1 to produce cation-permeable currents
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Source: Wikipedia
, PKD2 gene
The PKD2 gene (polycystic kidney disease 2 (autosomal dominant)) [HGNC Gene ID:9009] is located on chromosome 4q22.1. 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] [NCBI Gene ID:5311] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- PKD2 gene
- Part Display Name
- PKD2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-07
- Construct for LOINC Short Name
- PKD2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PKD2 基因 Synonyms: 多囊肾病 2 型; |
| es-ES | Spanish (Spain) | Gen PKD2 |
| it-IT | Italian (Italy) | PKD2, gene Synonyms: Gene PKD2 |
| et-EE | Estonian (Estonia) | PKD2 geen |
| tr-TR | Turkish (Turkey) | PKD2 geni |
| ru-RU | Russian (Russian Federation) | PKD2 ген |
| nl-NL | Dutch (Netherlands) | PKD2-gen Synonyms: PKD2 gen |
| el-GR | Greek (Greece) | Γονίδιο PKD2 Synonyms: Γονίδιο PKD2 |
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