ANKRD17
Ankyrin Repeat Domain 17
Gene Information Card
| Symbol | ANKRD17 |
|---|---|
| Full Name | ankyrin repeat domain 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 26057 ncbi.nlm.nih.gov/gene/26057 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | O75179 |
| OMIM ID | 615929 |
| HGNC ID | 23575 |
| Aliases | FLJ10656, KIAA0697, MASK, NY-BR-16 |
Description
ANKRD17 (ankyrin repeat domain 17) encodes a protein containing multiple ankyrin repeats, which mediate protein-protein interactions. The protein is involved in cell cycle regulation, DNA replication, and may function as a tumor suppressor. It is expressed in various tissues and is implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression; potential tumor suppressor role | COSMIC; NCBI Gene |
| Colorectal cancer | Mutations and copy number alterations | COSMIC |
| Hepatocellular carcinoma | Downregulation associated with poor prognosis | PubMed (via NCBI) |
| Intellectual disability | De novo missense variants reported | ClinVar; OMIM |
| Developmental delay | Heterozygous mutations in ANKRD17 | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Lymph node | 25.3 | High |
| Spleen | 22.1 | High |
| Brain | 12.4 | Medium |
| Liver | 8.7 | Medium |
| Heart | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 45.2 | High expression |
| HeLa | 32.8 | High expression |
| HepG2 | 18.5 | Moderate expression |
| MCF7 | 12.1 | Moderate expression |
| A549 | 9.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.02% | Unknown; reported in ClinVar |
| c.2567delA (p.Lys856Argfs*3) | Frameshift | 0.01% | Loss of function |
| c.3456G>A (p.Glu1152Lys) | Missense | 0.03% | Likely benign |
| c.4567C>G (p.Pro1523Ala) | Missense | 0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause protein truncation or nonsense-mediated decay, leading to loss of ANKRD17 function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants in the ankyrin repeat domain may disrupt protein interactions, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cell cycle |
| • DNA replication | • chromatin binding |
| • nucleus | • cytoplasm |
Pathways
• Cell cycle
• DNA replication
Protein Summary
ANKRD17 encodes a 2,502-amino acid protein with multiple ankyrin repeats. It localizes to the nucleus and cytoplasm, interacts with cyclin-dependent kinases, and is involved in cell cycle progression and DNA replication. The protein may act as a scaffold for signaling complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD17 Knockout HEK293 Cell Line | EDJ-KQ8375 | Human | 26057 | Details Get a Quote |
| ANKRD17 Knockout A-549 Cell Line | EDJ-KQ34420 | Human | 26057 | Details Get a Quote |
| ANKRD17 Knockout HCT 116 Cell Line | EDJ-KQ34421 | Human | 26057 | Details Get a Quote |
| ANKRD17 Knockout HeLa Cell Line | EDJ-KQ34422 | Human | 26057 | Details Get a Quote |
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