EBPL Gene: Function, Expression, and Clinical Significance
Comprehensive resource on the EBPL gene, including genomic context, expression patterns, mutations, and related diseases.
Gene Information Card
| Symbol | EBPL |
|---|---|
| Full Name | EBP like |
| Gene Type | gene with protein product |
| Chromosomal Location | 13q14.2 |
| NCBI Gene ID | 84650 ncbi.nlm.nih.gov/gene/84650 |
| Ensembl ID | ENSG00000123179 |
| UniProt ID | Q9BY08 |
| OMIM ID | 617335 |
| HGNC ID | HGNC:18061 |
| Aliases | EBRP |
Description
EBPL (EBP like) is a protein-coding gene located on chromosome 13q14.2. It is predicted to be involved in lipid metabolism, specifically in the sterol biosynthesis pathway, based on its similarity to EBP (emopamil binding protein). The protein is localized to the endoplasmic reticulum and may function as a sigma receptor or isomerase. However, its exact biological role remains to be fully characterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not associated with specific diseases | No direct disease association has been established for EBPL mutations. | No curated disease associations in OMIM or ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.3 | Medium |
| Brain | 8.5 | Low |
| Liver | 7.2 | Low |
| Testis | 6.8 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| K562 | 8.4 | Chronic myelogenous leukemia cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| MCF7 | 6.5 | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No common variants reported | Not applicable | Low | No significant mutations have been reported in large-scale studies. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in EBPL.
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)
| • endoplasmic reticulum (GO:0005783) | • 3-beta-hydroxy-delta5-steroid isomerase activity (GO:0003854) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Steroid biosynthesis (Reactome: R-HSA-196071)
Protein Summary
The EBPL protein is predicted to be a transmembrane protein localized to the endoplasmic reticulum. It shares sequence similarity with EBP, a sigma receptor and sterol isomerase. EBPL may participate in cholesterol biosynthesis or transport, but its precise function is not yet fully understood. Structural predictions suggest it has multiple transmembrane domains and an active site for isomerase activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EBPL Knockout HEK293 Cell Line | EDJ-KQ10149 | Human | 84650 | Details Get a Quote |
| EBPL Knockout A-549 Cell Line | EDJ-KQ37251 | Human | 84650 | Details Get a Quote |
| EBPL Knockout HCT 116 Cell Line | EDJ-KQ37252 | Human | 84650 | Details Get a Quote |
| EBPL Knockout HeLa Cell Line | EDJ-KQ37253 | Human | 84650 | Details Get a Quote |
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