Polycystin-2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''PKD2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
This gene encodes a member of the polycystin protein family, called
TRPP2, previously known as polycystin-2, PC2 or APKD2. TRPP2 contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in
renal tubular
The nephron is the minute or microscopic structural and functional unit of the kidney. It is composed of a renal corpuscle and a renal tubule. The renal corpuscle consists of a tuft of capillaries called a glomerulus and a cup-shaped structure ca ...
development, morphology, and function, and may modulate intracellular
calcium homeostasis and other
signal transduction
Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellula ...
pathways. This protein interacts with
polycystin 1
Polycystin 1 (often abbreviated to PC1) is a protein that in humans is encoded by the ''PKD1'' gene. Mutations of ''PKD1'' are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys ...
(TRPP1) to produce
cation-permeable currents. It was discovered by
Stefan Somlo
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* Stefan (given name)
* Stefan (surname)
* Ștefan, a Romanian given name and a surname
* Štefan, a Slavic given name and surname
* Stefan (footballer) (born 1988), Brazilian footballer
* Stefan Heym, pseudonym of German writ ...
at
Yale University
Yale University is a private research university in New Haven, Connecticut. Established in 1701 as the Collegiate School, it is the third-oldest institution of higher education in the United States and among the most prestigious in the wo ...
.
Clinical significance
Mutations in this gene have been associated with
autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. It is associated with large interfamilial and intrafamilial variability, whi ...
.
Interactions
Polycystin 2 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with the proteins
TRPC1,
PKD1 and TNNI3
Troponin I, cardiac muscle is a protein that in humans is encoded by the ''TNNI3'' gene.
It is a tissue-specific subtype of troponin I, which in turn is a part of the troponin complex
image:Troponin Ribbon Diagram.png, 400px, Ribbon representati ...
.
See also
* HAX1
* TRPP
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant
*
EF-hand-containing proteins
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