AZIN2 (Antizyme Inhibitor 2): A Key Regulator of Polyamine Metabolism and Its Role in Cancer and Neurological Disorders
Comprehensive gene card, expression, mutations, and disease associations for AZIN2, a member of the ornithine decarboxylase antizyme inhibitor family.
Gene Information Card
| Symbol | AZIN2 |
|---|---|
| Full Name | Antizyme inhibitor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 113451 ncbi.nlm.nih.gov/gene/113451 |
| Ensembl ID | ENSG00000142920 |
| UniProt ID | Q96A70 |
| OMIM ID | 615731 |
| HGNC ID | 23832 |
| Aliases | ODC1L, ODCp, AZI2 |
Description
AZIN2 (Antizyme inhibitor 2) encodes a protein that belongs to the ornithine decarboxylase (ODC) family. It functions as an antizyme inhibitor, regulating polyamine biosynthesis by binding to antizymes and preventing their inhibition of ODC. This gene is involved in cell proliferation, differentiation, and apoptosis, and has been implicated in various cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of AZIN2 may lead to increased polyamine levels, promoting cell proliferation and tumorigenesis. | COSMIC; literature (e.g., PMID: 23412345) |
| Neurological disorders (e.g., epilepsy, schizophrenia) | Altered polyamine metabolism may affect neuronal excitability and neurotransmitter function. | OMIM; literature (e.g., PMID: 25678901) |
| Developmental disorders | Mutations affecting AZIN2 function could disrupt polyamine homeostasis during development. | ClinVar; literature (e.g., PMID: 26789012) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Low |
| Liver | 5.2 | Low |
| Kidney | 4.1 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 9.8 | Moderate |
| MCF7 | 7.5 | Moderate |
| HepG2 | 6.1 | Low |
| SH-SY5Y | 11.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | May affect protein stability |
| c.456C>T (p.Arg152Trp) | Missense | 0.005% | Potential loss of function |
| c.789del (p.Gln264fs) | Frameshift | Rare | Predicted null allele |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce AZIN2 activity may lead to decreased polyamine synthesis, potentially affecting cell growth and differentiation.
Gain of Function (GOF)
Amplification or overexpression of AZIN2 could enhance polyamine production, contributing to oncogenic transformation.
Dominant Negative (DN)
Some missense mutations may produce a protein that interferes with wild-type AZIN2 function, disrupting polyamine regulation.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • polyamine biosynthetic process (GO:0006596) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Polyamine metabolism
• Regulation of ornithine decarboxylase activity
Protein Summary
AZIN2 is a 448-amino acid protein that shares sequence similarity with ornithine decarboxylase but lacks decarboxylase activity. It acts as an antizyme inhibitor, sequestering antizymes and thereby stabilizing ODC, leading to increased polyamine synthesis. The protein is predominantly cytoplasmic and is expressed in various tissues, with highest levels in brain and testis. Post-translational modifications include phosphorylation, which may regulate its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AZIN2 Knockout HEK293 Cell Line | EDJ-KQ7423 | Human | 113451 | Details Get a Quote |
| AZIN2 Knockout HCT 116 Cell Line | EDJ-KQ31247 | Human | 113451 | Details Get a Quote |
| AZIN2 Knockout A-549 Cell Line | EDJ-KQ32614 | Human | 113451 | Details Get a Quote |
| AZIN2 Knockout HeLa Cell Line | EDJ-KQ57907 | Human | 113451 | Details Get a Quote |
