ADSS2 Gene
Adenylosuccinate Synthase 2
Gene Information Card
| Symbol | ADSS2 |
|---|---|
| Full Name | Adenylosuccinate Synthase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 159 ncbi.nlm.nih.gov/gene/159 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | P30520 |
| OMIM ID | 612296 |
| HGNC ID | 292 |
| Aliases | ADSS, ADSS1, IMPDH, adenylosuccinate synthetase |
Description
ADSS2 encodes adenylosuccinate synthase 2, an enzyme that catalyzes the first committed step in the de novo synthesis of AMP from IMP, using GTP as an energy source. This enzyme is critical for purine nucleotide biosynthesis and cellular energy homeostasis. Mutations in ADSS2 are associated with a rare autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| ADSS2-related neurodevelopmental disorder | Loss-of-function mutations impair AMP synthesis, leading to purine imbalance and neuronal dysfunction | ClinVar, OMIM |
| Microcephaly | Deficient purine nucleotide pools disrupt brain growth and development | ClinVar, OMIM |
| Epileptic encephalopathy | Altered nucleotide metabolism affects neuronal excitability and synaptic function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Heart | 6.9 | Low |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
| K562 | 9.5 | Low expression |
| SH-SY5Y | 14.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.910C>T (p.Arg304Trp) | Missense | Rare | Loss of enzyme activity |
| c.1135G>A (p.Gly379Arg) | Missense | Rare | Reduced catalytic efficiency |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein |
| c.1183_1184del (p.Leu395fs) | Frameshift | Rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Most reported ADSS2 mutations are loss-of-function, reducing or abolishing adenylosuccinate synthase activity, leading to impaired AMP synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADSS2.
Dominant Negative (DN)
No dominant-negative mutations have been described for ADSS2.
View complete mutation data：
Gene Ontology (GO)
| • IMP binding | • GTP binding |
| • adenylosuccinate synthase activity | • purine nucleotide biosynthetic process |
| • AMP biosynthetic process | • cytoplasm |
Pathways
• Purine metabolism (KEGG hsa00230)
• De novo AMP biosynthesis
• Metabolic pathways (KEGG hsa01100)
Protein Summary
Adenylosuccinate synthase 2 (ADSS2) is a 56 kDa cytosolic enzyme that catalyzes the conversion of IMP and aspartate to adenylosuccinate in a GTP-dependent reaction. This is the rate-limiting step in the de novo synthesis of AMP. The protein is highly conserved across species and is expressed in multiple tissues, with highest levels in brain. Structural studies reveal a homodimeric organization with a flexible active site loop essential for substrate binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADSS2 Knockout HEK293 Cell Line | EDJ-KQ3352 | Human | 159 | Details Get a Quote |
| ADSS2 Knockout A-549 Cell Line | EDJ-KQ26346 | Human | 159 | Details Get a Quote |
| ADSS2 Knockout HCT 116 Cell Line | EDJ-KQ26348 | Human | 159 | Details Get a Quote |
| ADSS2 Knockout HeLa Cell Line | EDJ-KQ26349 | Human | 159 | Details Get a Quote |
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