GOLGA7B Gene
Golgin A7 Family Member B
Gene Information Card
| Symbol | GOLGA7B |
|---|---|
| Full Name | golgin A7 family member B |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 401237 ncbi.nlm.nih.gov/gene/401237 |
| Ensembl ID | ENSG00000165801 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 614827 |
| HGNC ID | HGNC:31960 |
| Aliases | GOLGA7L, GOLGA7L1, FLJ32743 |
Description
GOLGA7B (golgin A7 family member B) is a protein-coding gene located on chromosome 10q23.33. It encodes a member of the golgin family of coiled-coil proteins, which are involved in tethering vesicles to the Golgi apparatus and maintaining Golgi structure. The protein is implicated in intracellular membrane trafficking and may play a role in cellular signaling.
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 | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • protein transport |
| • intracellular protein transport | • vesicle-mediated transport |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Golgi-to-ER retrograde transport (Reactome: R-HSA-6811434)
Protein Summary
GOLGA7B encodes a 223-amino acid protein (UniProt Q5VWQ8) belonging to the golgin family. It localizes to the Golgi apparatus and is predicted to function in vesicle tethering and Golgi organization. The protein contains a coiled-coil domain typical of golgins, facilitating interactions with Rab GTPases and SNARE proteins. Its expression is highest in testis, with lower levels in brain and other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGA7B Knockout HEK293 Cell Line | EDJ-KQ10934 | Human | 401647 | Details Get a Quote |
| GOLGA7B Knockout HeLa Cell Line | EDJ-KQ60310 | Human | 401647 | Details Get a Quote |
| GOLGA7B Knockout A-549 Cell Line | EDJ-KQ68776 | Human | 401647 | Details Get a Quote |
| GOLGA7B Knockout HCT 116 Cell Line | EDJ-KQ77140 | Human | 401647 | Details Get a Quote |
