ANKRD18A Gene - Ankyrin Repeat Domain 18A
Comprehensive genomic and functional analysis of ANKRD18A
Gene Information Card
| Symbol | ANKRD18A |
|---|---|
| Full Name | Ankyrin Repeat Domain 18A |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q5VU65 |
| OMIM ID | 615729 |
| HGNC ID | 26768 |
| Aliases | ANKRD18, FLJ32894 |
Description
ANKRD18A encodes a protein containing ankyrin repeats, which are common motifs mediating protein-protein interactions. The gene is located on chromosome 9q31.1 and is expressed in various tissues. Its exact biological function is not fully characterized, but it may play roles in cellular signaling and structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.4 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.3 | Low expression |
| K562 | 1.1 | Low expression |
| HeLa | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | missense | <0.01% | Unknown |
| c.567delC | frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely cause loss of function.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) |
Protein Summary
The ANKRD18A protein contains ankyrin repeats, which are common protein interaction modules. Its exact function is unknown, but it may be involved in cellular signaling or cytoskeletal organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD18A Knockout HEK293 Cell Line | EDJ-KQ11740 | Human | 253650 | Details Get a Quote |
| ANKRD18A Knockout A-549 Cell Line | EDJ-KQ40111 | Human | 253650 | Details Get a Quote |
| ANKRD18A Knockout HCT 116 Cell Line | EDJ-KQ40112 | Human | 253650 | Details Get a Quote |
| ANKRD18A Knockout HeLa Cell Line | EDJ-KQ40113 | Human | 253650 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
