PKD2L2 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | PKD2L2 , TRPP5, polycystin 2 like 2, transient receptor potential cation channel | ||||||||||||||||||||||||
External IDs | OMIM: 604669 MGI: 1858231 HomoloGene: 22812 GeneCards: PKD2L2 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
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RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr 5: 137.89 – 137.94 Mb | Chr 18: 34.41 – 34.44 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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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. [5]
TRPP5 is a member of the transient receptor potential channel family of proteins.
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.
Polycystin 1 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.
Transient receptor potential canonical 1 (TRPC1) is a protein that in humans is encoded by the TRPC1 gene.
Probable G-protein coupled receptor 88 is a protein that in humans is encoded by the GPR88 gene.
Frizzled-2 is a protein that in humans is encoded by the FZD2 gene.
Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.
Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.
Olfactory receptor 2A4 is a protein that in humans is encoded by the OR2A4 gene.
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.
HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.
Intraflagellar transport protein 88 homolog is a protein that in humans is encoded by the IFT88 gene.
Potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), also known as Kv3.4, is a human gene.
Inositol 1,4,5-trisphosphate receptor, type 2, also known as ITPR2, is a protein which in humans is encoded by the ITPR2 gene. The protein encoded by this gene is both a receptor for inositol triphosphate and a calcium channel.
Mucolipin-3 also known as TRPML3 is a protein that in humans is encoded by the MCOLN3 gene. It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.
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.
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.
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.
Protein kinase, X-linked is a protein that in humans is encoded by the PRKX gene.
Polycystin 1 like 1, transient receptor potential channel interacting is a protein that in humans is encoded by the PKD1L1 gene.