Gene: INVS

Alternate names for this Gene: INV|NPH2|NPHP2

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.1

Description of this Gene: inversin

Type of Gene: protein-coding

rs121964995 in INVS gene and NEPHRONOPHTHISIS 2 PMID 12872123 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

PMID 20798123 2010 A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.

PMID 19177160 2009 Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 18076122 2008 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

rs121964994 in INVS gene and Nephronophthisis PMID 12872123 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

rs6479003 in INVS gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.