ANKRD60 Gene: Ankyrin Repeat Domain 60
A comprehensive biomedical overview of ANKRD60, including genomic context, expression, and clinical relevance.
Gene Information Card
| Symbol | ANKRD60 |
|---|---|
| Full Name | Ankyrin repeat domain 60 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 339487 ncbi.nlm.nih.gov/gene/339487 |
| Ensembl ID | ENSG00000132749 |
| UniProt ID | Q8N7Z5 |
| OMIM ID | Not available |
| HGNC ID | 26450 |
| Aliases | FLJ32769 |
Description
ANKRD60 (Ankyrin repeat domain 60) is a protein-coding gene located on chromosome 20p11.23. It encodes a protein containing ankyrin repeats, which are common protein-protein interaction motifs. The gene is expressed in various tissues, with highest expression in the thyroid and adrenal glands. Its exact biological function is not fully characterized, but it may play a role in cellular signaling or structural organization. No disease associations have been firmly established, and it is not currently a major focus of clinical research.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease links in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.3 | Medium |
| Adrenal gland | 10.1 | Medium |
| Testis | 8.5 | Low |
| Kidney | 7.2 | Low |
| Liver | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.0 | Moderate expression |
| K562 | 6.5 | Low expression |
| MCF7 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No significant variants | Not applicable | Not reported | No known functional impact |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in ANKRD60 associated with disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ANKRD60.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ankyrin repeat |
Protein Summary
The ANKRD60 protein contains ankyrin repeats, which are among the most common protein-protein interaction motifs in nature. These repeats typically mediate interactions with diverse partners, suggesting a role in cellular signaling or structural complexes. However, the specific function of ANKRD60 remains largely unknown, and no detailed structural or functional studies have been published. Its expression pattern suggests possible involvement in endocrine tissues, but further research is needed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD60 Knockout HEK293 Cell Line | EDJ-KQ3802 | Human | 140731 | Details Get a Quote |
| ANKRD60 Knockout HeLa Cell Line | EDJ-KQ58454 | Human | 140731 | Details Get a Quote |
| ANKRD60 Knockout A-549 Cell Line | EDJ-KQ66939 | Human | 140731 | Details Get a Quote |
| ANKRD60 Knockout HCT 116 Cell Line | EDJ-KQ75342 | Human | 140731 | Details Get a Quote |
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