ANKRD52
Ankyrin Repeat Domain 52
Gene Information Card
| Symbol | ANKRD52 |
|---|---|
| Full Name | Ankyrin Repeat Domain 52 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 283821 ncbi.nlm.nih.gov/gene/283821 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8N9V2 |
| OMIM ID | 617447 |
| HGNC ID | 26399 |
| Aliases | FLJ32709, MGC131970 |
Description
ANKRD52 (Ankyrin Repeat Domain 52) is a protein-coding gene located on chromosome 12q13.13. It encodes a protein containing multiple ankyrin repeats, which are common motifs mediating protein-protein interactions. ANKRD52 is involved in cellular signaling and may play a role in transcriptional regulation. Its expression is observed in various tissues, with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Moderate expression |
| HeLa | 4.2 | Low expression |
| K562 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • Protein binding (GO:0005515) | • Ankyrin repeat (GO:0005515) |
Pathways
• No curated pathways available
Protein Summary
The ANKRD52 protein contains ankyrin repeats that facilitate protein-protein interactions. It is predicted to localize to the cytoplasm and nucleus, potentially involved in signal transduction and gene expression regulation. No functional studies have been published to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD52 Knockout HEK293 Cell Line | EDJ-KQ12373 | Human | 283373 | Details Get a Quote |
| ANKRD52 Knockout A-549 Cell Line | EDJ-KQ41237 | Human | 283373 | Details Get a Quote |
| ANKRD52 Knockout HCT 116 Cell Line | EDJ-KQ41238 | Human | 283373 | Details Get a Quote |
| ANKRD52 Knockout HeLa Cell Line | EDJ-KQ41239 | Human | 283373 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
