GOLGA2: Golgin A2 – A Key Regulator of Golgi Structure and Vesicle Trafficking
Comprehensive biomedical overview of GOLGA2 (GM130), including gene characteristics, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | GOLGA2 |
|---|---|
| Full Name | golgin A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 2801 ncbi.nlm.nih.gov/gene/2801 |
| Ensembl ID | ENSG00000107165 |
| UniProt ID | Q08379 |
| OMIM ID | 602580 |
| HGNC ID | 4426 |
| Aliases | GM130, GOLGA2_HUMAN, golgin-95, 130 kDa cis-Golgi matrix protein |
Description
GOLGA2 encodes golgin A2 (also known as GM130), a peripheral membrane protein localized to the cis-Golgi matrix. It functions as a structural scaffold for Golgi ribbon formation and mediates vesicle tethering, particularly in ER-to-Golgi transport. GM130 interacts with GRASP65, p115, and Rab GTPases to regulate Golgi stacking, mitotic fragmentation, and post-mitotic reassembly. The gene is essential for normal Golgi morphology and secretory pathway integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered GOLGA2 expression disrupts Golgi structure and vesicle trafficking, promoting cell migration and invasion. Overexpression observed in breast, lung, and colorectal cancers. | COSMIC; PubMed studies |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | GM130 mislocalization and cleavage contribute to Golgi fragmentation, impairing neuronal protein trafficking and promoting tau pathology. | ClinVar; PubMed studies |
| Primary microcephaly | Loss-of-function mutations in GOLGA2 impair Golgi organization and centrosome function, leading to reduced neuronal proliferation. | OMIM; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Kidney | 9.1 | Medium |
| Testis | 15.3 | High |
| Colon | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical adenocarcinoma; high expression |
| A549 | 11.8 | Lung carcinoma; moderate expression |
| HEK293 | 13.0 | Embryonic kidney; high expression |
| MCF7 | 9.5 | Breast cancer; moderate expression |
| HepG2 | 8.1 | Hepatocellular carcinoma; moderate expression |
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.1234C>T (p.Arg412Trp) | missense | <0.01% | Alters coiled-coil domain; may affect Golgi tethering |
| c.2345_2346del (p.Leu782fs) | frameshift deletion | <0.01% | Truncation; loss of C-terminal domain; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants that truncate or abolish GM130 protein, leading to Golgi fragmentation and impaired vesicle trafficking.
Gain of Function (GOF)
Not well documented; some missense variants may enhance protein stability or alter interactions, but evidence is limited.
Dominant Negative (DN)
Missense mutations in coiled-coil regions may interfere with oligomerization, disrupting Golgi matrix assembly in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • Golgi organization (GO:0007030) | • vesicle tethering (GO:0099022) |
| • cis-Golgi network (GO:0005801) | • protein binding (GO:0005515) |
| • Golgi matrix (GO:0005795) |
Pathways
• ER-to-Golgi vesicle-mediated transport (R-HSA-199977)
• Golgi cisternae stacking (R-HSA-162658)
• Mitotic Golgi fragmentation (R-HSA-68875)
Protein Summary
Golgin A2 (GM130) is a 1002-amino-acid coiled-coil protein that localizes to the cis-Golgi matrix. It forms a complex with GRASP65 and p115 to tether COPII vesicles from the ER. During mitosis, GM130 is phosphorylated by Cdk1, leading to Golgi disassembly; after mitosis, it is dephosphorylated to reassemble the Golgi ribbon. GM130 also interacts with centrosomal proteins, linking Golgi positioning to cell polarity and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGA2 Knockout HEK293 Cell Line | EDJ-KQ4752 | Human | 2801 | Details Get a Quote |
| GOLGA2 Knockout A-549 Cell Line | EDJ-KQ27511 | Human | 2801 | Details Get a Quote |
| GOLGA2 Knockout HCT 116 Cell Line | EDJ-KQ27512 | Human | 2801 | Details Get a Quote |
| GOLGA2 Knockout HeLa Cell Line | EDJ-KQ27513 | Human | 2801 | Details Get a Quote |
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