LDLRAD4
Low Density Lipoprotein Receptor Class A Domain Containing 4
Gene Information Card
| Symbol | LDLRAD4 |
|---|---|
| Full Name | Low Density Lipoprotein Receptor Class A Domain Containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 753 ncbi.nlm.nih.gov/gene/753 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q86YD3 |
| OMIM ID | 614159 |
| HGNC ID | 28885 |
| Aliases | C18orf1, DKFZp686D0972, MGC138290 |
Description
LDLRAD4 encodes a protein containing a low-density lipoprotein receptor class A domain. It is involved in receptor-mediated endocytosis and may play a role in lipid metabolism and cellular signaling. The gene is located on chromosome 18p11.21 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 7.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | 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)
| • receptor-mediated endocytosis | • low-density lipoprotein particle receptor activity |
| • integral component of membrane |
Pathways
• Lipoprotein metabolism
• Clathrin-mediated endocytosis
Protein Summary
The LDLRAD4 protein is a transmembrane receptor with a class A LDL receptor domain, likely involved in binding and internalizing ligands. Its exact physiological ligands and functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDLRAD4 Knockout HEK293 Cell Line | EDJ-KQ4178 | Human | 753 | Details Get a Quote |
| LDLRAD4 Knockout HeLa Cell Line | EDJ-KQ25301 | Human | 753 | Details Get a Quote |
| LDLRAD4 Knockout A-549 Cell Line | EDJ-KQ26624 | Human | 753 | Details Get a Quote |
| LDLRAD4 Knockout HCT 116 Cell Line | EDJ-KQ69724 | Human | 753 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
