DAOA Gene - D-Amino Acid Oxidase Activator
Comprehensive genomic and functional analysis of the DAOA gene, its role in neuropsychiatric disorders, and associated molecular mechanisms.
Gene Information Card
| Symbol | DAOA |
|---|---|
| Full Name | D-Amino Acid Oxidase Activator |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 267012 ncbi.nlm.nih.gov/gene/267012 |
| Ensembl ID | ENSG00000169057 |
| UniProt ID | Q8TDS0 |
| OMIM ID | 607408 |
| HGNC ID | 21198 |
| Aliases | G72, SG72, LG72 |
Description
DAOA (D-amino acid oxidase activator) encodes a protein that activates D-amino acid oxidase (DAO), an enzyme involved in the oxidation of D-amino acids such as D-serine, a co-agonist of the NMDA receptor. The DAOA gene is primarily expressed in the brain and has been implicated in the regulation of glutamatergic neurotransmission. Genetic variants in DAOA are associated with increased risk for schizophrenia and bipolar disorder, likely through modulation of NMDA receptor function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | DAOA variants may alter DAO activity, leading to reduced D-serine levels and NMDA receptor hypofunction | Genetic association studies (PMID: 12422224, 14574404) |
| Bipolar disorder | Similar mechanism as schizophrenia; DAOA polymorphisms linked to altered glutamatergic signaling | Genetic association studies (PMID: 14574404, 15240872) |
| Major depressive disorder | Potential involvement via NMDA receptor modulation; limited evidence | Candidate gene studies (PMID: 17997378) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 0.8 | Low |
| Brain (cerebellum) | 0.5 | Low |
| Testis | 0.3 | Low |
| Spinal cord | 0.2 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.6 | Low expression |
| HEK293 (embryonic kidney) | 0.1 | Very low |
| U87MG (glioblastoma) | 0.4 | Low |
| HepG2 (liver) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3918342 | SNP (intronic) | 0.30 (global) | Associated with schizophrenia risk |
| rs1421292 | SNP (intronic) | 0.25 (global) | Associated with bipolar disorder |
| rs2391191 | SNP (missense, Arg30Lys) | 0.15 (global) | May alter protein function; linked to psychosis |
| rs947267 | SNP (intronic) | 0.20 (global) | Associated with schizophrenia |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DAOA; most variants are non-coding or missense with uncertain functional impact.
Gain of Function (GOF)
Not established; some missense variants (e.g., Arg30Lys) may alter DAO activation but evidence is inconclusive.
Dominant Negative (DN)
No dominant-negative effects described for DAOA mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • enzyme binding (GO:0019899) | • identical protein binding (GO:0042802) |
| • neuronal cell body (GO:0043025) |
Pathways
• D-amino acid metabolism
• NMDA receptor signaling (indirect via D-serine regulation)
Protein Summary
The DAOA protein (also known as G72 or LG72) is a 153-amino acid protein that localizes to the cytoplasm and mitochondria. It interacts with and activates D-amino acid oxidase (DAO), an enzyme that degrades D-serine, a key co-agonist of the NMDA receptor. By modulating D-serine levels, DAOA influences glutamatergic neurotransmission, which is critical for synaptic plasticity and cognitive function. Altered DAOA expression or activity is linked to NMDA receptor hypofunction, a core hypothesis in schizophrenia pathophysiology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAOA Knockout HEK293 Cell Line | EDJ-KQ13093 | Human | 267012 | Details Get a Quote |
| DAOA Knockout HeLa Cell Line | EDJ-KQ59359 | Human | 267012 | Details Get a Quote |
| DAOA Knockout A-549 Cell Line | EDJ-KQ67821 | Human | 267012 | Details Get a Quote |
| DAOA Knockout HCT 116 Cell Line | EDJ-KQ76205 | Human | 267012 | Details Get a Quote |
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