GOLGA8R Gene - Golgin A8 Family Member R
A comprehensive biomedical overview of GOLGA8R, including gene structure, expression, and clinical relevance.
Gene Information Card
| Symbol | GOLGA8R |
|---|---|
| Full Name | Golgin A8 family member R |
| Gene Type | protein coding |
| Chromosomal Location | 15q13.2 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000273820 |
| UniProt ID | A6NMY6 |
| OMIM ID | Not available |
| HGNC ID | 37225 |
| Aliases | GOLGA8R, golgin A8 family member R |
Description
GOLGA8R is a protein-coding gene located on chromosome 15q13.2. It belongs to the golgin A8 family, which is involved in vesicle trafficking and Golgi apparatus structure. The gene is part of a complex genomic region with multiple paralogs and pseudogenes. GOLGA8R is expressed in various tissues, with notable levels in the brain and testis. Its exact function is not fully characterized, but it is predicted to play a role in Golgi organization and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No direct disease association has been reported for GOLGA8R. | No evidence from ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | Moderate expression (based on RNA-seq data from GTEx, not specific to GOLGA8R due to sequence similarity) |
| Testis | Not available | Moderate expression |
| Other tissues | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected in RNA-seq |
| HEK293 | Not available | Detected in RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants reported | Not applicable | Not available | No functional effect characterized |
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 | • vesicle-mediated transport |
| • protein binding |
Pathways
• Vesicle trafficking (predicted)
Protein Summary
The GOLGA8R protein is a member of the golgin family, characterized by coiled-coil domains. It is predicted to localize to the Golgi apparatus and participate in tethering vesicles during transport. The protein sequence shares high similarity with other golgin A8 members, suggesting redundant functions. However, its specific role in cellular processes remains to be experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGA8R Knockout HEK293 Cell Line | EDJ-KQ13641 | Human | 101059918 | Details Get a Quote |
| GOLGA8R Knockout HeLa Cell Line | EDJ-KQ60990 | Human | 101059918 | Details Get a Quote |
| GOLGA8R Knockout A-549 Cell Line | EDJ-KQ69464 | Human | 101059918 | Details Get a Quote |
| GOLGA8R Knockout HCT 116 Cell Line | EDJ-KQ77815 | Human | 101059918 | Details Get a Quote |
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