GGA2: Golgi-associated, gamma adaptin ear containing, ARF binding protein 2
A key regulator of intracellular trafficking and protein sorting at the trans-Golgi network
Gene Information Card
| Symbol | GGA2 |
|---|---|
| Full Name | Golgi-associated, gamma adaptin ear containing, ARF binding protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.1 |
| NCBI Gene ID | 23062 ncbi.nlm.nih.gov/gene/23062 |
| Ensembl ID | ENSG00000103319 |
| UniProt ID | Q9UJY4 |
| OMIM ID | 606004 |
| HGNC ID | 17068 |
| Aliases | KIAA1080, VHS domain-containing protein 2, gamma-adaptin ear domain-containing protein 2 |
Description
GGA2 encodes a member of the Golgi-localized, gamma-adaptin ear domain homology, ARF-binding (GGA) protein family. These proteins function as clathrin adaptors at the trans-Golgi network (TGN), mediating the sorting and trafficking of transmembrane cargo proteins between the TGN and endosomes. GGA2 specifically binds ADP-ribosylation factors (ARFs) and recruits clathrin to facilitate vesicle formation. It plays a critical role in the transport of lysosomal hydrolases via mannose-6-phosphate receptors and other cargo.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered GGA2 expression may disrupt protein trafficking, affecting cell signaling and growth pathways. | COSMIC; literature review |
| Neurodegenerative disorders (potential) | Impaired endosomal trafficking due to GGA2 dysfunction may contribute to protein aggregation. | ClinVar; limited evidence |
| Lysosomal storage disorders (indirect) | Defective sorting of lysosomal enzymes via mannose-6-phosphate receptors can lead to lysosomal dysfunction. | UniProt; inferred from function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 8.1 | Low |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 13.6 | High expression |
| HepG2 | 11.0 | Medium expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.1246G>A (p.Val416Met) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.1687_1689del (p.Lys563del) | In-frame deletion | <0.01% | Unknown; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport | • clathrin coat assembly |
| • vesicle-mediated transport | • Golgi to endosome transport |
| • protein localization to lysosome | • ARF protein signal transduction |
| • clathrin adaptor activity | • protein binding |
Pathways
• Clathrin-mediated endocytosis (KEGG hsa04144)
• Lysosome (KEGG hsa04142)
• Mannose-6-phosphate receptor transport (Reactome R-HSA-2213280)
Protein Summary
GGA2 is a 613-amino acid protein containing an N-terminal VHS domain, a GAT domain, and a C-terminal gamma-adaptin ear domain. The VHS domain binds cargo proteins (e.g., mannose-6-phosphate receptors), the GAT domain interacts with ARF GTPases and ubiquitin, and the ear domain recruits clathrin and accessory proteins. GGA2 localizes to the TGN and cycles between the TGN and endosomes, regulating the sorting of lysosomal enzymes and other transmembrane proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GGA2 Knockout HEK293 Cell Line | EDJ-KQ7811 | Human | 23062 | Details Get a Quote |
| GGA2 Knockout A-549 Cell Line | EDJ-KQ33334 | Human | 23062 | Details Get a Quote |
| GGA2 Knockout HCT 116 Cell Line | EDJ-KQ33335 | Human | 23062 | Details Get a Quote |
| GGA2 Knockout HeLa Cell Line | EDJ-KQ33336 | Human | 23062 | Details Get a Quote |
