GOLGA8A: Golgin A8 Family Member A
A member of the golgin subfamily A involved in Golgi structure and vesicle trafficking
Gene Information Card
| Symbol | GOLGA8A |
|---|---|
| Full Name | golgin A8 family member A |
| Gene Type | protein-coding |
| Chromosomal Location | 15q13.1 |
| NCBI Gene ID | 23015 ncbi.nlm.nih.gov/gene/23015 |
| Ensembl ID | ENSG00000175265 |
| UniProt ID | Q8N2A0 |
| OMIM ID | 616736 |
| HGNC ID | HGNC:19868 |
| Aliases | GOLGA8, golgin-67, GM88 |
Description
GOLGA8A encodes a member of the golgin subfamily A, a group of coiled-coil proteins localized to the Golgi apparatus. These proteins are involved in maintaining Golgi structure, vesicle tethering, and intracellular trafficking. GOLGA8A is specifically expressed in the Golgi complex and may play a role in membrane fusion and protein transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Thyroid | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 7.6 | Low expression |
| HepG2 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Predicted loss-of-function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • protein transport |
| • vesicle-mediated transport | • membrane fusion |
| • coiled-coil domain |
Pathways
• Golgi vesicle transport
• Intra-Golgi traffic
Protein Summary
Golgin A8A is a 67 kDa coiled-coil protein localized to the Golgi apparatus. It is involved in tethering vesicles to Golgi membranes and maintaining Golgi ribbon structure. The protein contains a C-terminal transmembrane domain for Golgi anchoring and an N-terminal coiled-coil region for protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGA8A Knockout HEK293 Cell Line | EDJ-KQ51075 | Human | 23015 | Details Get a Quote |
| GOLGA8A Knockout HeLa Cell Line | EDJ-KQ55673 | Human | 23015 | Details Get a Quote |
| GOLGA8A Knockout A-549 Cell Line | EDJ-KQ64171 | Human | 23015 | Details Get a Quote |
| GOLGA8A Knockout HCT 116 Cell Line | EDJ-KQ72614 | Human | 23015 | Details Get a Quote |
