AIDA (Axin Interactor, Dorsalization Associated)
AIDA Gene - Function, Expression, and Clinical Significance
Gene Information Card
| Symbol | AIDA |
|---|---|
| Full Name | Axin Interactor, Dorsalization Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q96BJ3 |
| OMIM ID | 608494 |
| HGNC ID | HGNC:317 |
| Aliases | C1orf11, DKFZp434B0416, FLJ10305, MGC138290 |
Description
The AIDA gene encodes a protein that interacts with axin, a component of the Wnt signaling pathway. It is involved in dorsalization during embryonic development and may play a role in apoptosis and cell cycle regulation. The protein is also known as C1orf11 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | AIDA may modulate Wnt/β-catenin signaling via axin interaction; altered expression linked to tumorigenesis | PMID: 15616553 |
| Hepatocellular carcinoma | Dysregulation of AIDA expression affects Wnt pathway activity | PMID: 21516111 |
| Neuroblastoma | AIDA expression correlates with differentiation and prognosis | PMID: 22961666 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 16.5 | Medium expression |
| SH-SY5Y | 22.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional effect |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
| c.523_524insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, disrupting axin interaction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may interfere with axin binding, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005737 - cytoplasm |
| • GO:0005634 - nucleus | • GO:0016055 - Wnt signaling pathway |
| • GO:0006915 - apoptotic process |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Apoptosis (KEGG: hsa04210)
Protein Summary
The AIDA protein (UniProt Q96BJ3) is a 509-amino acid protein that interacts with axin, a scaffold protein in the Wnt/β-catenin signaling cascade. It is localized in the cytoplasm and nucleus, and is involved in dorsalization during development. The protein may also participate in apoptosis regulation. Expression is highest in testis and brain, with moderate levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIDA Knockout HEK293 Cell Line | EDJ-KQ51632 | Human | 64853 | Details Get a Quote |
| AIDA Knockout HeLa Cell Line | EDJ-KQ57088 | Human | 64853 | Details Get a Quote |
| AIDA Knockout A-549 Cell Line | EDJ-KQ65601 | Human | 64853 | Details Get a Quote |
| AIDA Knockout HCT 116 Cell Line | EDJ-KQ74029 | Human | 64853 | Details Get a Quote |
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