ARG2
Arginase 2
Gene Information Card
| Symbol | ARG2 |
|---|---|
| Full Name | Arginase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 384 ncbi.nlm.nih.gov/gene/384 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | P78540 |
| OMIM ID | 107830 |
| HGNC ID | 664 |
| Aliases | ARG2, arginase II, type II arginase |
Description
The ARG2 gene encodes arginase 2, a mitochondrial enzyme that catalyzes the hydrolysis of arginine to ornithine and urea, playing a key role in the urea cycle and arginine metabolism. It is expressed primarily in kidney, prostate, and brain, and is involved in nitric oxide regulation, polyamine synthesis, and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperargininemia (ARG2 deficiency) | Loss-of-function mutations in ARG2 impair arginine catabolism, leading to elevated arginine levels and neurological symptoms. | ClinVar, OMIM |
| Cardiovascular disease | ARG2 upregulation in endothelial cells reduces nitric oxide availability, contributing to vascular dysfunction. | NCBI, PubMed |
| Cancer (prostate, breast) | ARG2 overexpression in tumors promotes polyamine synthesis and immune evasion by depleting arginine in the tumor microenvironment. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Prostate | 8.3 | Medium |
| Brain | 5.1 | Medium |
| Liver | 2.0 | Low |
| Skeletal muscle | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 6.8 | Moderate expression |
| HepG2 | 3.4 | Low expression |
| MCF7 | 7.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.77G>A (p.Arg26Gln) | Missense | <0.1% | Reduced enzymatic activity; associated with hyperargininemia |
| c.365C>T (p.Pro122Leu) | Missense | <0.1% | Loss of function; reported in ClinVar |
| c.703C>T (p.Arg235Trp) | Missense | <0.1% | Impaired mitochondrial targeting; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg26Gln, p.Pro122Leu) reduce or abolish arginase activity, leading to arginine accumulation and hyperargininemia.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ARG2.
Dominant Negative (DN)
No dominant-negative mutations described for ARG2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004053 - arginase activity | • GO:0006527 - arginine catabolic process |
| • GO:0005739 - mitochondrion | • GO:0019541 - arginine metabolic process |
| • GO:0051260 - protein homooligomerization |
Pathways
• Urea cycle and metabolism of arginine (Reactome: R-HSA-70635)
• Arginine and proline metabolism (KEGG: hsa00330)
• Metabolism of amino acids and derivatives (Reactome: R-HSA-71291)
Protein Summary
Arginase 2 is a 354-amino acid mitochondrial enzyme that converts L-arginine to L-ornithine and urea. It exists as a homotrimer and requires manganese ions for activity. The protein regulates cellular arginine levels, influencing nitric oxide synthesis, polyamine production, and immune responses. Its expression is highest in kidney, prostate, and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARG2 Knockout HEK293 Cell Line | EDC09599 | Human | 384 | Details Get a Quote |
| ARG2 Knockout A-549 Cell Line | EDJ-KQ25156 | Human | 384 | Details Get a Quote |
| ARG2 Knockout HeLa Cell Line | EDJ-KQ25157 | Human | 384 | Details Get a Quote |
| ARG2 Knockout HCT 116 Cell Line | EDJ-KQ23773 | Human | 384 | Details Get a Quote |
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