AARD Gene
AARD (Alanine and Arginine Rich Domain Containing Protein) - Gene Information and Functional Overview
Gene Information Card
| Symbol | AARD |
|---|---|
| Full Name | Alanine and Arginine Rich Domain Containing Protein |
| Gene Type | Protein-coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 100507436 ncbi.nlm.nih.gov/gene/100507436 |
| Ensembl ID | ENSG00000205744 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617826 |
| HGNC ID | 37216 |
| Aliases | C8orf86, FLJ45831 |
Description
AARD (Alanine and Arginine Rich Domain Containing Protein) is a protein-coding gene located on chromosome 8q24.3. The encoded protein contains a domain rich in alanine and arginine residues. Its specific biological function is not fully characterized, but it is predicted to be involved in cellular processes. Expression data from GTEx and other sources indicate low to moderate expression in certain tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Adrenal gland | 1.1 | Low |
| Thyroid | 0.8 | Low |
| Prostate | 0.6 | Low |
| Breast | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.4 | Low expression |
| HeLa | 0.3 | Low expression |
| K562 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated 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：
Protein Summary
The AARD protein (UniProt A6NKD9) is 183 amino acids long and contains an alanine and arginine rich domain. Its molecular function and cellular role remain largely unknown, with no experimentally validated interactions or pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AARD Knockout HEK293 Cell Line | EDJ-KQ11470 | Human | 441376 | Details Get a Quote |
| AARD Knockout HeLa Cell Line | EDJ-KQ60422 | Human | 441376 | Details Get a Quote |
| AARD Knockout A-549 Cell Line | EDJ-KQ68889 | Human | 441376 | Details Get a Quote |
| AARD Knockout HCT 116 Cell Line | EDJ-KQ77249 | Human | 441376 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
