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Nephronophthisis 2, Infantile (NPHP2)

INVS; NPH2; INV; Inversin; Nephrocystin 2; Inversion of embryo turning homolog

Inversin, also known as INVS is 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. Two transcript variants encoding distinct isoforms have been identified for this gene.
Required for normal renal development and establishment of left-right axis. Widely expressed. Strongly expressed in the primary cilia of renal tubular cells.

Organism species: Homo sapiens (Human)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Hu01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Hu01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Hu01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Hu01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Hu01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Mus musculus (Mouse)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Mu01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Mu01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Mu01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Mu01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Mu01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Rattus norvegicus (Rat)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Ra01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Ra01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Ra01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Ra01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Ra01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Canis familiaris; Canine (Dog)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Ca01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Ca01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Ca01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Ca01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Ca01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Sus scrofa; Porcine (Pig)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Po01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Po01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Po01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Po01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Po01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Bos taurus; Bovine (Cattle)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Bo01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Bo01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Bo01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Bo01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Bo01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Oryctolagus cuniculus (Rabbit)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Rb01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Rb01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Rb01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Rb01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Rb01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Rhesus monkey (Simian)

PRODUCT TYPE CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPU304Mo01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAU304Mo01 Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IP.
PAU304Mo01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB; IHC; ICC; IF.
Assay Kits CLU304Mo01 CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA assay for Antigen Detection
ELU304Mo01 ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) Enzyme-linked immunosorbent assay for Antigen Detection

Reference

"Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia."
Hum. Genet. 110:157-165(2002) [PubMed] [Europe PMC] [Abstract]

"The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin."
Hum. Genet. 110:377-384(2002) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination."
Nat. Genet. 34:413-420(2003) [PubMed] [Europe PMC] [Abstract]

"Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways."
Nat. Genet. 37:537-543(2005) [PubMed] [Europe PMC] [Abstract]

"Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract]

"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways."
Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]

"ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3."
Nat. Genet. 45:951-956(2013) [PubMed] [Europe PMC] [Abstract]