ADO (2-Aminoethanethiol Dioxygenase)
Gene encoding a thiol dioxygenase involved in cysteine catabolism and hydrogen sulfide production.
Gene Information Card
| Symbol | ADO |
|---|---|
| Full Name | 2-aminoethanethiol dioxygenase |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 84856 ncbi.nlm.nih.gov/gene/84856 |
| Ensembl ID | ENSG00000120049 |
| UniProt ID | Q96SZ5 |
| OMIM ID | 617969 |
| HGNC ID | 25253 |
| Aliases | C10orf22, FLJ20171, MGC13170 |
Description
The ADO gene encodes 2-aminoethanethiol dioxygenase, a non-heme iron-dependent enzyme that catalyzes the dioxygenation of 2-aminoethanethiol (cysteamine) to produce cysteine sulfinate and hydrogen peroxide. This enzyme plays a key role in cysteine catabolism and the regulation of hydrogen sulfide levels. ADO is expressed in various tissues and is implicated in cellular redox balance and sulfur metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cystinosis | Potential involvement in cysteamine metabolism; altered ADO activity may affect cystine accumulation. | Inferred from biochemical pathway; limited direct evidence. |
| Hydrogen sulfide-related disorders | ADO modulates H2S levels; dysregulation may contribute to cardiovascular and neurological conditions. | Inferred from functional studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.5 | Medium |
| Kidney | 6.2 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.1 | Hepatocellular carcinoma cell line |
| HEK293 | 5.4 | Embryonic kidney cell line |
| SH-SY5Y | 3.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function. |
| c.200C>T (p.Pro67Leu) | missense | <0.01% | Unknown effect; rare variant. |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the active site or start codon are predicted to reduce or abolish enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0017172 (cysteine dioxygenase activity) | • GO:0005506 (iron ion binding) |
| • GO:0005737 (cytoplasm) | • GO:0006534 (cysteine metabolic process) |
| • GO:0019370 (hydrogen sulfide biosynthetic process) |
Pathways
• Cysteine and methionine metabolism (KEGG:00270)
• Sulfur metabolism (KEGG:00920)
Protein Summary
2-Aminoethanethiol dioxygenase (ADO) is a 229-amino acid protein that belongs to the cupin superfamily. It contains a conserved metal-binding motif and requires Fe2+ for catalytic activity. The enzyme converts 2-aminoethanethiol to cysteine sulfinate, which is further metabolized to taurine or pyruvate and sulfate. ADO also influences hydrogen sulfide levels by competing with other pathways for cysteine. Structural studies reveal a jelly-roll fold typical of non-heme dioxygenases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADORA2A Knockout HEK293 Cell Line | EDJ-KQ1290 | Human | 135 | Details Get a Quote |
| ADORA2B Knockout HEK293 Cell Line | EDJ-KQ1291 | Human | 136 | Details Get a Quote |
| ADORA1 Knockout HEK293 Cell Line | EDJ-KQ1750 | Human | 134 | Details Get a Quote |
| ADO Knockout HEK293 Cell Line | EDJ-KQ9471 | Human | 84890 | Details Get a Quote |
| ADORA2A Knockout A-549 Cell Line | EDJ-KQ20691 | Human | 135 | Details Get a Quote |
| ADORA2A Knockout HCT 116 Cell Line | EDJ-KQ20692 | Human | 135 | Details Get a Quote |
| ADORA2B Knockout A-549 Cell Line | EDJ-KQ20693 | Human | 136 | Details Get a Quote |
| ADORA2B Knockout HCT 116 Cell Line | EDJ-KQ20694 | Human | 136 | Details Get a Quote |
| ADORA2B Knockout HeLa Cell Line | EDJ-KQ20695 | Human | 136 | Details Get a Quote |
| ADORA1 Knockout A-549 Cell Line | EDJ-KQ21620 | Human | 134 | Details Get a Quote |
| ADORA1 Knockout HCT 116 Cell Line | EDJ-KQ21621 | Human | 134 | Details Get a Quote |
| ADO Knockout A-549 Cell Line | EDJ-KQ37420 | Human | 84890 | Details Get a Quote |
| ADO Knockout HCT 116 Cell Line | EDJ-KQ37422 | Human | 84890 | Details Get a Quote |
| ADO Knockout HeLa Cell Line | EDJ-KQ37423 | Human | 84890 | Details Get a Quote |
| ADORA3 Knockout HEK293 Cell Line | EDJ-KQ50103 | Human | 140 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
