ANKRD7
Ankyrin Repeat Domain 7
Gene Information Card
| Symbol | ANKRD7 |
|---|---|
| Full Name | Ankyrin Repeat Domain 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 56311 ncbi.nlm.nih.gov/gene/56311 |
| Ensembl ID | ENSG00000106211 |
| UniProt ID | Q9H9Z2 |
| OMIM ID | 615882 |
| HGNC ID | 17281 |
| Aliases | FLJ10842, MGC138290 |
Description
ANKRD7 (Ankyrin Repeat Domain 7) is a protein-coding gene located on chromosome 7q31.31. The encoded protein contains ankyrin repeats, which are common motifs involved in protein-protein interactions. ANKRD7 is expressed in various tissues, with notable levels in testis and brain. Its precise biological function remains under investigation, but it may play roles in cellular signaling and structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.8 | Low expression |
| K562 | 3.2 | Very low expression |
| HeLa | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | 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：
Protein Summary
The ANKRD7 protein (UniProt Q9H9Z2) contains ankyrin repeat domains, which mediate protein-protein interactions. Its molecular function and cellular role are not fully characterized, but it is predicted to be involved in cytoskeletal organization or signal transduction based on domain architecture.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD7 Knockout HEK293 Cell Line | EDJ-KQ12352 | Human | 56311 | Details Get a Quote |
| ANKRD7 Knockout A-549 Cell Line | EDJ-KQ41204 | Human | 56311 | Details Get a Quote |
| ANKRD7 Knockout HeLa Cell Line | EDJ-KQ56734 | Human | 56311 | Details Get a Quote |
| ANKRD7 Knockout HCT 116 Cell Line | EDJ-KQ73678 | Human | 56311 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
