RGPD4 Gene - RANBP2-like and GRIP domain-containing protein 4
Comprehensive genomic and functional analysis of RGPD4
Gene Information Card
| Symbol | RGPD4 |
|---|---|
| Full Name | RANBP2-like and GRIP domain-containing protein 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q13 |
| NCBI Gene ID | 285590 ncbi.nlm.nih.gov/gene/285590 |
| Ensembl ID | ENSG00000169375 |
| UniProt ID | Q9H6Y5 |
| OMIM ID | 612408 |
| HGNC ID | 29089 |
| Aliases | RANBP2L4, RANBP2-like 4, GRIP domain-containing 4 |
Description
RGPD4 (RANBP2-like and GRIP domain-containing protein 4) 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. The precise biological function of RGPD4 remains under investigation, but it is thought to be involved in nuclear transport and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations confirmed | 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 | 7.4 | Low expression |
| K562 | 5.6 | Low expression |
| A549 | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown functional impact |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • nuclear pore (GO:0005643) |
Pathways
• Nuclear pore complex assembly
• Protein transport
Protein Summary
The RGPD4 protein (UniProt Q9H6Y5) contains a GRIP domain and is predicted to localize to the nuclear pore complex. It may function in nucleocytoplasmic transport, but detailed functional characterization is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGPD4 Knockout HEK293 Cell Line | EDJ-KQ15053 | Human | 285190 | Details Get a Quote |
| RGPD4 Knockout HeLa Cell Line | EDJ-KQ59505 | Human | 285190 | Details Get a Quote |
| RGPD4 Knockout A-549 Cell Line | EDJ-KQ67972 | Human | 285190 | Details Get a Quote |
| RGPD4 Knockout HCT 116 Cell Line | EDJ-KQ76348 | Human | 285190 | Details Get a Quote |
