ANKS6: Ankyrin Repeat and Sterile Alpha Motif Domain Containing 6
A key regulator of renal development and ciliary function, associated with nephronophthisis and related ciliopathies.
Gene Information Card
| Symbol | ANKS6 |
|---|---|
| Full Name | Ankyrin Repeat and Sterile Alpha Motif Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 203286 ncbi.nlm.nih.gov/gene/203286 |
| Ensembl ID | ENSG00000165119 |
| UniProt ID | Q68DC5 |
| OMIM ID | 615370 |
| HGNC ID | 26724 |
| Aliases | NPHP16, SAMC6, ANKS6A |
Description
ANKS6 encodes a protein containing ankyrin repeats and a sterile alpha motif (SAM) domain. It is involved in ciliary signaling and renal tubular development. Mutations in ANKS6 cause nephronophthisis type 16 (NPHP16), an autosomal recessive ciliopathy characterized by renal fibrosis and end-stage renal disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 16 (NPHP16) | Loss-of-function mutations disrupt ciliary protein interactions, leading to renal tubular degeneration and fibrosis. | OMIM #615382; ClinVar pathogenic variants |
| Ciliopathy-related renal disease | Defective ANKS6 impairs Hippo signaling and ciliary function, contributing to cyst formation. | PubMed studies; functional assays |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Liver | 6.1 | Low |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Highest expression in renal cell lines |
| HepG2 | 7.8 | Moderate expression |
| A549 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2113C>T (p.Arg705*) | Nonsense | Rare | Loss of function; truncation of SAM domain |
| c.1465C>T (p.Arg489Trp) | Missense | Rare | Impaired protein stability and ciliary localization |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Protein homodimerization activity |
| • Hippo signaling | • Cell projection organization |
Pathways
• Hippo signaling pathway (Reactome R-HSA-2028269)
• Ciliary landscape (KEGG hsa04550)
Protein Summary
ANKS6 is a 705-amino acid protein with N-terminal ankyrin repeats and a C-terminal SAM domain. It localizes to the ciliary base and interacts with NPHP proteins (e.g., NPHP1, NPHP4) to regulate renal epithelial cell polarity and proliferation. Loss of function leads to nephronophthisis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKS6 Knockout HEK293 Cell Line | EDJ-KQ5492 | Human | 203286 | Details Get a Quote |
| ANKS6 Knockout A-549 Cell Line | EDJ-KQ27470 | Human | 203286 | Details Get a Quote |
| ANKS6 Knockout HCT 116 Cell Line | EDJ-KQ28720 | Human | 203286 | Details Get a Quote |
| ANKS6 Knockout HeLa Cell Line | EDJ-KQ28721 | Human | 203286 | Details Get a Quote |
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