catalog number :
MBS2530068
products full name :
INVS Antibody
products short name :
[INVS]
products name syn :
[INV; KIAA0573; MGC133080; MGC133081; NPH2; NPHP2]
other names :
[inversin isoform a; Inversin; inversin; inversion of embryo turning homolog; inversion of embryonic turning; nephrocystin-2; inversin; Inversion of embryo turning homolog; Nephrocystin-2]
products gene name :
[INVS]
other gene names :
[INVS; INVS; INV; NPH2; NPHP2; INV; NPHP2]
uniprot entry name :
INVS_HUMAN
reactivity :
Human, Mouse, Rat
purity :
Antigen affinity purification
storage stability :
Store at -20 degree C. Avoid freeze / thaw cycles
tested application :
ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)
app notes :
WB: 1:200-1:1000. IHC: 1:20-1:200. IF: 1:10-1:100
image1 heading :
Testing Data
image2 heading :
Immunohistochemistry
image3 heading :
Immunofluorescence
other info1 :
Immunogen: Fusion protein of INVS. Calculated Molecular Weight: 118kd; 100kd. Observed Molecular Weight: 110-115kd
other info2 :
Buffer: PBS with 0.1% sodium azide and 50% glycerol pH 7.3. Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-8719 / sc-12550
ncbi acc num :
NP_055240.2
ncbi gb acc num :
NM_014425.3
ncbi mol weight :
10,748 Da
ncbi summary :
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
uniprot summary :
INVS: 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. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in INVS are the cause of nephronophthisis type 2 (NPHP2); 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. 3 isoforms of the human protein are produced by alternative splicing. Chromosomal Location of Human Ortholog: 9q31. Cellular Component: microtubule; membrane; cytoplasm; spindle; nucleus. Molecular Function: calmodulin binding; protein binding. Biological Process: Wnt receptor signaling pathway; pancreas development; kidney development; post-embryonic development. Disease: Nephronophthisis 2