≡

Nephronophthisis 2, Infantile (NPHP2)

[Edit]

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

Nephronophthisis 2, Infantile (NPHP2)
CCC C545
HGNC 17870
MGI 1335082
PubMed 12642479
RGD 1563359
UniProt Q9Y283
Wiki INVS
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)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC545Hu01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC545Hu01 Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) WB,IHC
Assay Kits n/a CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC545Mu01 Recombinant Nephronophthisis 2, Infantile (NPHP2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 2, Infantile (NPHP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 2, Infantile (NPHP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 2, Infantile (NPHP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 2, Infantile (NPHP2) ELISA Kit Customized Service Offer
  1. "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]
  2. "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]
  3. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "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]
  6. "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]
  7. "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]
  8. "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
  9. "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]