ANKRD18B Gene - Ankyrin Repeat Domain 18B
Comprehensive genomics and proteomics resource for ANKRD18B
Gene Information Card
| Symbol | ANKRD18B |
|---|---|
| Full Name | ankyrin repeat domain 18B |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 283821 ncbi.nlm.nih.gov/gene/283821 |
| Ensembl ID | ENSG00000165072 |
| UniProt ID | Q8N4N8 |
| OMIM ID | 620105 |
| HGNC ID | 28470 |
| Aliases | ANKRD18B, FLJ32743 |
Description
ANKRD18B (ankyrin repeat domain 18B) is a protein-coding gene located on chromosome 9p13.3. The encoded protein contains ankyrin repeats, which are common motifs involved in protein-protein interactions. The function of ANKRD18B is not fully characterized, but it is predicted to play a role in cellular signaling or structural organization. Expression data suggest broad but low-level expression across tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.5 | Low |
| Lung | 1.0 | Low |
| Liver | 0.8 | Low |
| Kidney | 0.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.1 | Low expression |
| HeLa | 1.8 | Low expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | 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 ANKRD18B protein (UniProt Q8N4N8) is a 654-amino acid polypeptide containing ankyrin repeat domains. Its exact biological function remains unknown, but ankyrin repeats typically mediate protein-protein interactions. No post-translational modifications or structural studies are currently available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD18B Knockout HEK293 Cell Line | EDJ-KQ12356 | Human | 441459 | Details Get a Quote |
| ANKRD18B Knockout A-549 Cell Line | EDJ-KQ41210 | Human | 441459 | Details Get a Quote |
| ANKRD18B Knockout HCT 116 Cell Line | EDJ-KQ41211 | Human | 441459 | Details Get a Quote |
| ANKRD18B Knockout HeLa Cell Line | EDJ-KQ41212 | Human | 441459 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
