AMPD2 Gene: Adenosine Monophosphate Deaminase 2
Key regulator of purine metabolism and neuromuscular function
Gene Information Card
| Symbol | AMPD2 |
|---|---|
| Full Name | Adenosine Monophosphate Deaminase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 271 ncbi.nlm.nih.gov/gene/271 |
| Ensembl ID | ENSG00000116337 |
| UniProt ID | Q01433 |
| OMIM ID | 102771 |
| HGNC ID | 469 |
| Aliases | AMPD, AMPD2, MGC119734, MGC119735 |
Description
The AMPD2 gene encodes adenosine monophosphate deaminase 2, an enzyme that catalyzes the deamination of AMP to IMP in the purine nucleotide cycle. This enzyme is critical for energy metabolism, particularly in tissues with high energy demands such as skeletal muscle and brain. Mutations in AMPD2 are associated with pontocerebellar hypoplasia type 9 (PCH9), a severe neurodegenerative disorder characterized by microcephaly, developmental delay, and brain atrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 9 (PCH9) | Loss-of-function mutations in AMPD2 disrupt purine metabolism, leading to impaired energy homeostasis and neuronal degeneration. | ClinVar, OMIM |
| AMPD2 deficiency | Reduced AMP deaminase activity results in accumulation of AMP and altered nucleotide pools, affecting muscle and brain function. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 6.7 | Low |
| Liver | 3.2 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.2 | Cervical cancer cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 9.1 | Neuroblastoma cell line |
| HepG2 | 3.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133C>T (p.Arg45*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.859G>A (p.Gly287Arg) | Missense | Rare | Loss of function; impaired catalytic activity |
| c.1123_1124del (p.Leu375Valfs*13) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Most reported AMPD2 mutations are loss-of-function, leading to reduced or absent enzyme activity, causing PCH9.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AMPD2.
Dominant Negative (DN)
No dominant-negative mutations have been described for AMPD2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003876 - AMP deaminase activity | • GO:0005737 - cytoplasm |
| • GO:0005829 - cytosol | • GO:0006164 - purine nucleotide biosynthetic process |
| • GO:0009152 - purine ribonucleotide biosynthetic process |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Adenine and adenosine salvage pathway
Protein Summary
AMPD2 is a 746-amino acid protein that functions as a homotetramer. It catalyzes the irreversible deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP), releasing ammonia. This reaction is a key step in the purine nucleotide cycle, regulating cellular energy balance and nucleotide pools. The enzyme is highly expressed in skeletal muscle and brain, and its deficiency leads to metabolic dysregulation and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMPD2 Knockout HEK293 Cell Line | EDJ-KQ4052 | Human | 271 | Details Get a Quote |
| AMPD2 Knockout A-549 Cell Line | EDJ-KQ26405 | Human | 271 | Details Get a Quote |
| AMPD2 Knockout HCT 116 Cell Line | EDJ-KQ26406 | Human | 271 | Details Get a Quote |
| AMPD2 Knockout HeLa Cell Line | EDJ-KQ26407 | Human | 271 | Details Get a Quote |
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