RGPD8: RANBP2-like and GRIP domain-containing protein 8
A member of the RANBP2 family with potential roles in nuclear transport and cellular signaling
Gene Information Card
| Symbol | RGPD8 |
|---|---|
| Full Name | RANBP2-like and GRIP domain-containing protein 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q13 |
| NCBI Gene ID | 729533 ncbi.nlm.nih.gov/gene/729533 |
| Ensembl ID | ENSG00000188010 |
| UniProt ID | Q96C23 |
| OMIM ID | Not available |
| HGNC ID | HGNC:33824 |
| Aliases | RANBP2L1, RANBP2-like 1 |
Description
RGPD8 (RANBP2-like and GRIP domain-containing protein 8) is a protein-coding gene located on chromosome 2q13. It encodes a protein containing a GRIP domain and shares similarity with RANBP2, a component of the nuclear pore complex involved in nucleocytoplasmic transport. The specific function of RGPD8 is not fully characterized, but it may play roles in nuclear transport and cellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.0 | Low expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.0 | Very 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)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• No curated pathways
Protein Summary
The RGPD8 protein (UniProt Q96C23) contains a GRIP domain and is predicted to localize to the nucleus and cytoplasm. Its exact molecular function remains unclear, but it may be involved in nuclear transport processes similar to RANBP2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGPD8 Knockout HEK293 Cell Line | EDJ-KQ5635 | Human | 727851 | Details Get a Quote |
| RGPD8 Knockout A-549 Cell Line | EDJ-KQ28960 | Human | 727851 | Details Get a Quote |
| RGPD8 Knockout HCT 116 Cell Line | EDJ-KQ28961 | Human | 727851 | Details Get a Quote |
| RGPD8 Knockout HeLa Cell Line | EDJ-KQ28962 | Human | 727851 | Details Get a Quote |