ANKRD10
Ankyrin Repeat Domain 10
Gene Information Card
| Symbol | ANKRD10 |
|---|---|
| Full Name | Ankyrin Repeat Domain 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 55608 ncbi.nlm.nih.gov/gene/55608 |
| Ensembl ID | ENSG00000102755 |
| UniProt ID | Q9H8Y8 |
| OMIM ID | 618550 |
| HGNC ID | 21352 |
| Aliases | FLJ10884, MGC138290 |
Description
ANKRD10 (Ankyrin Repeat Domain 10) is a protein-coding gene located on chromosome 13q34. It encodes a protein containing ankyrin repeats, which are common motifs involved in protein-protein interactions. The exact biological function of ANKRD10 is not fully characterized, but it is predicted to play a role in cellular signaling and structural organization. Expression data indicate broad tissue distribution with highest levels in the thyroid and testis.
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 |
|---|---|---|
| Thyroid | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Adrenal gland | 8.1 | Low |
| Brain | 6.4 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Moderate expression |
| HeLa | 7.2 | Low expression |
| K562 | 5.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • Protein binding (GO:0005515) | • Cytoplasm (GO:0005737) |
Pathways
• No curated pathways available
Protein Summary
The ANKRD10 protein contains ankyrin repeat domains, which are 33-residue motifs that mediate protein-protein interactions. It is localized in the cytoplasm and may be involved in signal transduction or cytoskeletal organization. The full functional repertoire remains to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD10 Knockout HEK293 Cell Line | EDJ-KQ12353 | Human | 55608 | Details Get a Quote |
| ANKRD10 Knockout A-549 Cell Line | EDJ-KQ41205 | Human | 55608 | Details Get a Quote |
| ANKRD10 Knockout HCT 116 Cell Line | EDJ-KQ41206 | Human | 55608 | Details Get a Quote |
| ANKRD10 Knockout HeLa Cell Line | EDJ-KQ41207 | Human | 55608 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records