ANKRD29
Ankyrin Repeat Domain 29
Gene Information Card
| Symbol | ANKRD29 |
|---|---|
| Full Name | Ankyrin Repeat Domain 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 147463 ncbi.nlm.nih.gov/gene/147463 |
| Ensembl ID | ENSG00000166949 |
| UniProt ID | Q8N6D2 |
| OMIM ID | 615874 |
| HGNC ID | 26415 |
| Aliases | FLJ32709 |
Description
ANKRD29 (Ankyrin Repeat Domain 29) is a protein-coding gene located on chromosome 18q11.2. The encoded protein contains ankyrin repeats, which are common motifs involved in protein-protein interactions. The function of ANKRD29 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 brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | 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 ANKRD29 protein (UniProt Q8N6D2) contains ankyrin repeat domains, which mediate protein-protein interactions. Its exact biological function remains unclear, but it is expressed in multiple tissues, notably the brain and testis. No disease-causing mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD29 Knockout HEK293 Cell Line | EDJ-KQ10606 | Human | 147463 | Details Get a Quote |
| ANKRD29 Knockout A-549 Cell Line | EDJ-KQ38090 | Human | 147463 | Details Get a Quote |
| ANKRD29 Knockout HCT 116 Cell Line | EDJ-KQ38091 | Human | 147463 | Details Get a Quote |
| ANKRD29 Knockout HeLa Cell Line | EDJ-KQ36787 | Human | 147463 | Details Get a Quote |
