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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ANKRD6
ankyrin repeat domain 6
Chromosome 6 · 6q15
NCBI Gene: 22881Ensembl: ENSG00000135299.18HGNC: HGNC:17280UniProt: A0A384MEC3
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
establishment or maintenance of cell polarityregulation of Wnt signaling pathwaynucleuscytoplasmalcohol drinkingsystemic inflammatory response syndromeAbnormality of the skeletal systemdrug allergy
✦AI Summary

ANKRD6 (ankyrin repeat domain 6) is a mammalian planar cell polarity (PCP) protein that functions as a homolog of Drosophila diego 1. The protein contains six ankyrin repeats and two coiled-coil regions that serve as binding domains 2. ANKRD6 recruits casein kinase I epsilon (CKI-epsilon) to the beta-catenin degradation complex containing AXN1/AXN2 and GSK3-beta, thereby suppressing canonical Wnt/β-catenin signaling while promoting WNT/PCP pathway activation 3. This dual regulatory role involves phosphorylating beta-catenin to inhibit Wnt/β-catenin-mediated transcription 1. During development, ANKRD6 is prominently expressed in the developing brain and is asymmetrically localized in inner ear sensory organ cells, where loss of ANKRD6 causes planar cell polarity defects 41. ANKRD6 loss-of-function studies in mice show increased canonical Wnt signaling, confirming its inhibitory role 1. Clinically, ANKRD6 overexpression associates with poor prognosis in gastric and colon adenocarcinomas, correlating with epithelial-mesenchymal transition markers and metastatic potential 56. ANKRD6 genetic variants influence muscle strength and physical activity responses in humans 7, indicating broader physiological roles beyond PCP signaling.

Sources cited
1
ANKRD6 contains six ankyrin repeats and two coiled-coil regions; central coiled-coil binds CKI-epsilon, C-terminal coiled-coil binds Axin1/Axin2
PMID: 15647854
2
ANKRD6 is a functional homolog of Drosophila diego for PCP regulation; asymmetrically localizes in inner ear cells; loss causes PCP defects; suppresses canonical Wnt signaling
PMID: 25218921
3
ANKRD6 is prominently expressed in developing brain from E12 to maturity; related to Drosophila diego and involved in PCP regulation
PMID: 12203740
4
ANKRD6 is a core PCP signaling molecule and diego homolog; induces class switch from WNT/GSK3beta to WNT/PCP pathway; aberrant activation linked to cancer invasion and metastasis
PMID: 16273260
5
High ANKRD6 expression associates with poor prognosis, metastasis, and EMT markers in gastric cancer; ANKRD6 silencing impairs metastatic traits
PMID: 38480611
6
ANKRD6 is upregulated in colon adenocarcinoma; high expression correlates with poor survival; enriched in Wnt pathway; knockdown suppresses proliferation and invasion
PMID: 37933647
7
ANKRD6 genetic variants associate with muscle strength and size response to resistance training and habitual physical activity levels
PMID: 22580979
8
ANKRD6 identified as hub gene associated with immune infiltration in Stanford type A aortic dissection pathogenesis
PMID: 39344316
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.27Weak
systemic inflammatory response syndromeOpen Targets
0.21Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
drug allergyOpen Targets
0.17Weak
ovarian dysfunctionOpen Targets
0.16Weak
response to paracetamolOpen Targets
0.16Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.10Suggestive
cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.05Suggestive
hearing loss, autosomal dominant 87Open Targets
0.05Suggestive
heart diseaseOpen Targets
0.05Suggestive
hearing loss, autosomal recessiveOpen Targets
0.05Suggestive
hearing loss, autosomal dominant 80Open Targets
0.05Suggestive
gastric cancerOpen Targets
0.04Suggestive
nervous system benign neoplasmOpen Targets
0.04Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.04Suggestive
autosomal recessive nonsyndromic hearing loss 4Open Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
heart failureOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GSK3BProtein interaction100%VANGL2Protein interaction100%VANGL1Protein interaction99%CSNK1EProtein interaction99%DVL1Protein interaction99%AXIN1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Ovary
84%
Heart
53%
Liver
34%
Lung
29%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
ANKRD6GSK3BVANGL2VANGL1CSNK1EDVL1AXIN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y2G4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.55–0.87]
RankingsWhere ANKRD6 stands among ~20K protein-coding genes
  • #12,939of 20,598
    Most Researched25
  • #7,660of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedANKRD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of rat Ankrd6 gene in silico.
PMID: 15647854
Int J Mol Med · 2005
1.00
2
Variants of the ankyrin repeat domain 6 gene (ANKRD6) and muscle and physical activity phenotypes among European-derived American adults.
PMID: 22580979
J Strength Cond Res · 2012
0.90
3
Identification of a novel gene signature related to prognosis and metastasis in gastric cancer.
PMID: 38480611
Cell Oncol (Dordr) · 2024
0.80
4
Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear.
PMID: 25218921
Dev Biol · 2014
0.70
5
Expression of the ankyrin repeat domain 6 gene (Ankrd6) during mouse brain development.
PMID: 12203740
Dev Dyn · 2002
0.60