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Rabbit Anti-Inversin/FITC Conjugated antibody
background:
Nephrocystin-2 is a 1,065 amino acid protein that exists as three alternatively spliced isoforms and is essential for establishment of the left-right axis and normal renal development. Localizing to the cytoplasm, cytoskeleton, membrane and nucleus, nephrocystin-2 is expressed during presomite-stage embryos and persists in adulthood, with high levels of expression in liver and kidney. Mice expressing nephrocystin-2 mutations are primarily generated by random insertional mutagenesis and result in the reversal of left/right polarity and cyst formation in the kidneys. Furthermore, altered nephrocystin-2 function reverses nodal and lefty expression, indicating that nephrocystin-2 signaling occurs upstream of these proteins involved in the development of asymmetry.
Function:
Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Binds calmodulin via its IQ domains. Interacts with microtubules. (from SwissProt).
Subunit:
Binds calmodulin via its IQ domains. Interacts with APC2. Interacts with alpha-, beta-, and gamma-catenin. Interacts with N-cadherin (CDH2). Interacts with microtubules (By similarity). Interacts with NPHP1. Interacts with DVL1, PRICKLE (PRICKLE1 or PRICKLE2) and Strabismus (VANGL1 or VANGL2). Interacts with NPHP3. Interacts with IQCB1; the interaction likely requires additional interactors.
Subcellular Location:
Cytoplasm, cytoskeleton, spindle, membrane; Peripheral membrane protein, nucleus. Note=Associates with several components of the cytoskeleton including ciliary, random and polarized microtubules. During mitosis, it is recruited to mitotic spindle. Frequently membrane-associated, membrane localization is dependent upon cell-cell contacts and is redistributed when cell adhesion is disrupted after incubation of the cell monolayer with low-calcium/EGTA medium.
Tissue Specificity:
Widely expressed. Strongly expressed in the primary cilia of renal tubular cells.
Post-translational modifications:
May be ubiquitinated via its interaction with APC2 (By similarity).
DISEASE:
Defects in INVS are the cause of nephronophthisis type 2 (NPHP2) [MIM:602088]; also known as infantile nephronophthisis. NPHP2 is an autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes and by the presence of cortical microcysts.
Similarity:
Contains 16 ANK repeats.
Contains 2 IQ domains.
Database links:
Entrez Gene: 27130 Human
Entrez Gene: 16348 Mouse
Entrez Gene: 313228 Rat
Omim: 243305 Human
SwissProt: Q9Y283 Human
SwissProt: O89019 Mouse
Unigene: 558477 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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