ANKS3: Ankyrin Repeat and Sterile Alpha Motif Domain Containing 3
A scaffold protein implicated in ciliary function and renal development
Gene Information Card
| Symbol | ANKS3 |
|---|---|
| Full Name | Ankyrin Repeat and Sterile Alpha Motif Domain Containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 124401 ncbi.nlm.nih.gov/gene/124401 |
| Ensembl ID | ENSG00000161940 |
| UniProt ID | Q6ZMQ8 |
| OMIM ID | 615262 |
| HGNC ID | 29167 |
| Aliases | DKFZp686D0972, FLJ32790 |
Description
ANKS3 encodes a scaffold protein containing ankyrin repeats and a sterile alpha motif (SAM) domain. It is involved in ciliary signaling and renal tubular development. Mutations in ANKS3 have been associated with nephronophthisis (NPHP)-like ciliopathies, suggesting a role in primary cilia function and planar cell polarity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 16 (NPHP16) | Loss of ANKS3 function disrupts ciliary signaling and renal tubular integrity, leading to cyst formation and fibrosis. | OMIM #615382; ClinVar |
| Joubert syndrome (JBTS) | ANKS3 mutations impair ciliary protein trafficking, affecting cerebellar and retinal development. | OMIM #213300; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| RPTEC (renal proximal tubule epithelial) | 10.2 | Relevant to renal ciliary function |
| SH-SY5Y (neuroblastoma) | 5.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | <0.01% | Premature truncation; loss of SAM domain |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Disrupts ankyrin repeat folding; reduced protein stability |
| c.832_833del (p.Leu278Glufs*12) | Frameshift | <0.01% | Loss of C-terminal domain; impaired ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg42*, p.Leu278Glufs*12) lead to truncated or absent protein, disrupting ciliary scaffold function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ANKS3.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly163Arg) may exert dominant-negative effects by interfering with wild-type ANKS3 interactions.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005929 (cilium) |
| • GO:0030030 (cell projection organization) | • GO:0060271 (cilium assembly) |
| • GO:0005737 (cytoplasm) |
Pathways
• Hippo signaling pathway (WP4541)
• Ciliopathy-associated pathways (WP4628)
Protein Summary
ANKS3 is a 548-amino-acid scaffold protein with N-terminal ankyrin repeats and a C-terminal SAM domain. It localizes to the base of primary cilia and interacts with NPHP proteins (e.g., NPHP1, NPHP4) to regulate ciliary signaling and planar cell polarity. Loss of ANKS3 disrupts renal tubule morphogenesis, leading to nephronophthisis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKS3 Knockout HEK293 Cell Line | EDJ-KQ8544 | Human | 124401 | Details Get a Quote |
| ANKS3 Knockout A-549 Cell Line | EDJ-KQ34691 | Human | 124401 | Details Get a Quote |
| ANKS3 Knockout HCT 116 Cell Line | EDJ-KQ34692 | Human | 124401 | Details Get a Quote |
| ANKS3 Knockout HeLa Cell Line | EDJ-KQ34693 | Human | 124401 | Details Get a Quote |
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