Entity Details

Primary name INVS
Entity type gene
Source Source Link

Details

PrimaryID27130
RefseqGeneNG_008316
SymbolINVS
Nameinversin
Chromosome9
Location9q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-01-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsINVS_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005516 calmodulin binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005874 microtubule
GO:0005929 cilium
GO:0007275 multicellular organism development
GO:0016020 membrane
GO:0016055 Wnt signaling pathway
GO:0090090 negative regulation of canonical Wnt signaling pathway

Diseases

Show/Hide Table
Disease IDSourceNameDescription
602088 OMIMNephronophthisis 2 (NPHP2)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. The disease is caused by variants affecting the gene represented in this entry.