ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.

doi:10.1038/ng.2681

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Article

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.

Nature genetics - 1 Aug 2013

Hoff Sylvia, Halbritter Jan, Epting Daniel, Frank Valeska, Nguyen Thanh-Minh T, van Reeuwijk Jeroen, Boehlke Christopher, Schell Christoph, Yasunaga Takayuki, Helmstädter Martin, Mergen Miriam, Filhol Emilie, Boldt Karsten, Horn Nicola, Ueffing Marius, Otto Edgar A, Eisenberger Tobias, Elting Mariet W, van Wijk Joanna A E, Bockenhauer Detlef, Sebire Neil J, Rittig Søren, Vyberg Mogens, Ring Troels, Pohl Martin, Pape Lars, Neuhaus Thomas J, Elshakhs Neveen A Soliman, Koon Sarah J, Harris Peter C, Grahammer Florian, Huber Tobias B, Kuehn E Wolfgang, Kramer-Zucker Albrecht, Bolz Hanno J, Roepman Ronald, Saunier Sophie, Walz Gerd, Hildebrandt Friedhelm, Bergmann Carsten, Lienkamp Soeren S

Abstract excerpt

Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. Most NPHP gene products form molecular networks. Here we identify ANKS6 as a new NPHP family member that connects NEK8 (NPHP9) to INVS (NPHP2) and NPHP3. We show that ANKS6 localizes to the proximal cilium and confirm its role in renal development through knockdown experiments in zebrafish and...

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Identifiers

PMID: 23793029
DOI: 10.1038/ng.2681
PMCID: PMC3786259

Genes

INVS
NPHP3
NEK8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.PMID 23793029Read ↗

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Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.Semantic proximity Read ↗

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Anks3 interacts with nephronophthisis proteins and is required for normal renal developmentSemantic proximity Read ↗

ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice.Semantic proximity Read ↗

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.Semantic proximity Read ↗

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