ANKRD9
Ankyrin Repeat Domain 9
Gene Information Card
| Symbol | ANKRD9 |
|---|---|
| Full Name | Ankyrin Repeat Domain 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 112487 ncbi.nlm.nih.gov/gene/112487 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96BM1 |
| OMIM ID | 615734 |
| HGNC ID | 28983 |
| Aliases | ANKRD9, ankyrin repeat domain 9 |
Description
ANKRD9 encodes a protein containing ankyrin repeats, which are involved in protein-protein interactions. The gene is located on chromosome 14q24.1 and is expressed in various tissues. Its function is not fully characterized, but it may play a role in cellular signaling and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease links in ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Kidney | 8.5 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Kidney | 12.4 | Medium |
| Liver | 9.8 | Low |
| Testis | 7.2 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | High expression |
| HeLa | 7.5 | Medium expression |
| K562 | 5.0 | Low expression |
| HEK 293 | 8.5 | Moderate expression |
| HeLa | 5.2 | Low expression |
| HepG2 | 6.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not available | No functional impact reported |
Mutation functional classification
Loss of Function (LOF)
Gain of Function (GOF)
Dominant Negative (DN)
Loss of Function (LOF)
No evidence of loss-of-function mutations in ANKRD9.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Protein Summary
ANKRD9 is a 347-amino acid protein containing ankyrin repeats. Its exact function is unknown, but it may mediate protein-protein interactions in signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD9 Knockout HEK293 Cell Line | EDJ-KQ8150 | Human | 122416 | Details Get a Quote |
| ANKRD9 Knockout A-549 Cell Line | EDJ-KQ34053 | Human | 122416 | Details Get a Quote |
| ANKRD9 Knockout HCT 116 Cell Line | EDJ-KQ34054 | Human | 122416 | Details Get a Quote |
| ANKRD9 Knockout HeLa Cell Line | EDJ-KQ34055 | Human | 122416 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
