Polycystin 2

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PKD2
5mke.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PKD2 , APC2, PKD4, Pc-2, TRPP2, Polycystic kidney disease 2, polycystin 2, transient receptor potential cation channel
External IDs OMIM: 173910 MGI: 1099818 HomoloGene: 20104 GeneCards: PKD2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000297

NM_008861

RefSeq (protein)

NP_000288

NP_032887

Location (UCSC) Chr 4: 88.01 – 88.08 Mb Chr 5: 104.61 – 104.65 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Polycystin-2(PC2) [5] is a protein that in humans is encoded by the PKD2 gene. [6] [7] [8]

Contents

The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and 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 development, morphology, and function, and may modulate intracellular calcium homeostasis and other signal transduction pathways. This protein interacts with polycystin 1 (TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University.

Illustration of PKD1 and PKD2 proteins at the cell membrane PKD1PKD2 en.png
Illustration of PKD1 and PKD2 proteins at the cell membrane

Clinical significance

Mutations in this gene have been associated with autosomal dominant polycystic kidney disease. [8]

Interactions

Polycystin 2 has been shown to interact with the proteins TRPC1, [9] PKD1 [9] [10] and TNNI3. [11]

See also

Related Research Articles

<span class="mw-page-title-main">Autosomal dominant polycystic kidney disease</span> Medical condition

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, which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias. Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation. ADPKD is estimated to affect at least one in every 1000 individuals worldwide, making this disease the most common inherited kidney disorder with a diagnosed prevalence of 1:2000 and incidence of 1:3000-1:8000 in a global scale.

<span class="mw-page-title-main">Cystic kidney disease</span> Medical condition

Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions and with the inclusion of neoplasms with cystic changes, over 40 classifications and subtypes have been identified. Depending on the disease classification, the presentation may be at birth, or much later into adult life. Cystic disease may involve one or both kidneys and may, or may not, occur in the presence of other anomalies. A higher incidence is found in males and prevalence increases with age. Renal cysts have been reported in more than 50% of patients over the age of 50. Typically, cysts grow up to 2.88 mm annually and may cause related pain and/or hemorrhage.

<span class="mw-page-title-main">Fibrocystin</span>

Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.

TRPP is a family of transient receptor potential ion channels which when mutated can cause polycystic kidney disease.

<span class="mw-page-title-main">Polycystin 1</span> Family of transport proteins

Polycystin 1 (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 characterised by the development of renal cysts and severe kidney dysfunction.

<span class="mw-page-title-main">TRPC1</span> Protein and coding gene in humans

Transient receptor potential canonical 1 (TRPC1) is a protein that in humans is encoded by the TRPC1 gene.

<span class="mw-page-title-main">Frizzled-4</span> Protein-coding gene in the species Homo sapiens

Frizzled-4(Fz-4) is a protein that in humans is encoded by the FZD4 gene. Fz-4 has also been designated as CD344.

<span class="mw-page-title-main">PRKCSH</span> Protein-coding gene in the species Homo sapiens

Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.

<span class="mw-page-title-main">ATP6V0C</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase 16 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0C gene.

<span class="mw-page-title-main">PKD2L1</span> Protein-coding gene in the species Homo sapiens

Polycystic kidney disease 2-like 1 protein also known as transient receptor potential polycystic 2 is a protein that in humans is encoded by the PKD2L1 gene.

<span class="mw-page-title-main">HAX1</span> Mammalian protein found in Homo sapiens

HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.

<span class="mw-page-title-main">SEC63</span> Protein-coding gene in the species Homo sapiens

Translocation protein SEC63 homolog is a protein that in humans is encoded by the SEC63 gene.

<span class="mw-page-title-main">TBL3</span> Protein-coding gene in the species Homo sapiens

Transducin beta-like protein 3 is a protein that in humans is encoded by the TBL3 gene.

<span class="mw-page-title-main">Polycystic kidney disease</span> Congenital disorder of urinary system

Polycystic kidney disease is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well.

<span class="mw-page-title-main">Autosomal recessive polycystic kidney disease</span> Medical condition

Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the PKHD1 cause ARPKD.

<span class="mw-page-title-main">TRPP3</span> Protein-coding gene in the species Homo sapiens

Polycystic kidney disease 2-like 2 protein (PKD2L2) also known as transient receptor potential polycystic 5 (TRPP5) is a protein that in humans is encoded by the PKD2L2 gene.

PKD domain was first identified in the polycystic kidney disease protein, polycystin-1, and contains an Ig-like fold consisting of a beta-sandwich of seven strands in two sheets with a Greek key topology, although some members have additional strands. Polycystin-1 is a large cell-surface glycoprotein involved in adhesive protein–protein and protein–carbohydrate interactions; however it is not clear if the PKD domain mediates any of these interactions.

<span class="mw-page-title-main">GAIN domain</span> Protein domain

The GAIN domain is a protein domain found in a number of cell surface receptors, including adhesion-GPCRs and polycystic kidney disease proteins PKD1 and PKD2. The domain is involved in the self-cleavage of these transmembrane receptors, and has been shown to be crucial for their function. Point mutations within the GAIN domain of PKD1 and GPR56 are known to cause polycystic kidney disease and polymicrogyria, respectively.

The Polycystin Cation Channel (PCC) Family consists of several transporters ranging in size from 500 to over 4000 amino acyl residues (aas) in length and exhibiting between 5 and 18 transmembrane segments (TMSs). This family is a constituent of the Voltage-Gated Ion Channel (VIC) Superfamily. These transporters generally catalyze the export of cations. A representative list of proteins belonging to the PCC family can be found in the Transporter Classification Database.

<span class="mw-page-title-main">Polycystic kidney disease 3 (autosomal dominant)</span> Protein in humans

Polycystic kidney disease 3 (autosomal dominant) is a protein that in humans is encoded by the PKD3 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000118762 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034462 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "PKD2 polycystin 2, transient receptor potential cation channel [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 16 November 2022.
  6. Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S (December 1993). "Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23". Genomics. 18 (3): 467–472. doi:10.1016/s0888-7543(11)80001-7. PMID   8307555.
  7. Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, et al. (December 1993). "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease". Nature Genetics. 5 (4): 359–362. doi:10.1038/ng1293-359. PMID   8298643. S2CID   5634589.
  8. 1 2 "Entrez Gene: PKD2 polycystic kidney disease 2 (autosomal dominant)".
  9. 1 2 Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proceedings of the National Academy of Sciences of the United States of America. 96 (7): 3934–3939. Bibcode:1999PNAS...96.3934T. doi: 10.1073/pnas.96.7.3934 . PMC   22398 . PMID   10097141.
  10. Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proceedings of the National Academy of Sciences of the United States of America. 94 (13): 6965–6970. Bibcode:1997PNAS...94.6965T. doi: 10.1073/pnas.94.13.6965 . PMC   21268 . PMID   9192675.
  11. Li Q, Shen PY, Wu G, Chen XZ (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. 42 (2): 450–457. doi:10.1021/bi0267792. PMID   12525172.

Further reading