ANKRD53
Ankyrin Repeat Domain 53
Gene Information Card
| Symbol | ANKRD53 |
|---|---|
| Full Name | ankyrin repeat domain 53 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 79998 ncbi.nlm.nih.gov/gene/79998 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8N9N5 |
| OMIM ID | 617265 |
| HGNC ID | 26760 |
| Aliases | FLJ22662, MGC13170 |
Description
ANKRD53 (ankyrin repeat domain 53) is a protein-coding gene located on chromosome 2p23.3. It encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. The function of ANKRD53 is not fully characterized, but it may play a role in cellular signaling or structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 3.1 | Low |
| Prostate | 2.8 | Low |
| Adrenal gland | 2.5 | Low |
| Brain | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.0 | Low expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) |
Protein Summary
The ANKRD53 protein contains ankyrin repeat domains, which are common motifs mediating protein-protein interactions. Its exact biological function remains unclear, but it is predicted to be involved in cellular processes such as signal transduction or cytoskeletal organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD53 Knockout HEK293 Cell Line | EDJ-KQ12374 | Human | 79998 | Details Get a Quote |
| ANKRD53 Knockout HeLa Cell Line | EDJ-KQ57275 | Human | 79998 | Details Get a Quote |
| ANKRD53 Knockout A-549 Cell Line | EDJ-KQ65783 | Human | 79998 | Details Get a Quote |
| ANKRD53 Knockout HCT 116 Cell Line | EDJ-KQ74204 | Human | 79998 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
