INVS

INVS
Identifiers
AliasesINVS, INV, NPH2, NPHP2, inversin
External IDsOMIM: 243305; MGI: 1335082; HomoloGene: 7786; GeneCards: INVS; OMA:INVS - orthologs
Orthologs
SpeciesHumanMouse
Entrez

27130

16348

Ensembl

ENSG00000119509

ENSMUSG00000028344

UniProt

Q9Y283
Q2M1I4

O89019

RefSeq (mRNA)

NM_014425
NM_183245
NM_001318381
NM_001318382

NM_001281977
NM_001281978
NM_010569

RefSeq (protein)

NP_001305310
NP_001305311
NP_055240
NP_001305310.1

n/a

Location (UCSC)Chr 9: 100.1 – 100.3 MbChr 4: 48.28 – 48.43 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Inversin is a protein that in humans is encoded by the INVS gene.

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. Two transcript variants encoding distinct isoforms have been identified for this gene.