ANKRD62
Ankyrin Repeat Domain 62
Gene Information Card
| Symbol | ANKRD62 |
|---|---|
| Full Name | Ankyrin Repeat Domain 62 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 284232 ncbi.nlm.nih.gov/gene/284232 |
| Ensembl ID | ENSG00000186184 |
| UniProt ID | Q5VWP3 |
| OMIM ID | Not available |
| HGNC ID | HGNC:26760 |
| Aliases | FLJ32743, MGC16384 |
Description
ANKRD62 (Ankyrin Repeat Domain 62) is a protein-coding gene located on chromosome 18q11.2. The encoded protein contains ankyrin repeat domains, which are typically involved in protein-protein interactions. The specific biological function of ANKRD62 is not fully characterized, but it is predicted to play a role in cellular signaling or structural organization. Expression data suggest low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.8 | Low |
| Lung | 1.1 | Low |
| Liver | 0.9 | Not detected |
| Kidney | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
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：
Protein Summary
The ANKRD62 protein (UniProt Q5VWP3) contains ankyrin repeat domains, which are common motifs mediating protein-protein interactions. The full-length protein is predicted to be intracellular, but its specific molecular function and cellular role remain largely unknown. No structural or functional studies have been published.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD62 Knockout HEK293 Cell Line | EDJ-KQ12376 | Human | 342850 | Details Get a Quote |
| ANKRD62 Knockout HeLa Cell Line | EDJ-KQ59730 | Human | 342850 | Details Get a Quote |
| ANKRD62 Knockout A-549 Cell Line | EDJ-KQ68203 | Human | 342850 | Details Get a Quote |
| ANKRD62 Knockout HCT 116 Cell Line | EDJ-KQ76576 | Human | 342850 | Details Get a Quote |
