LDLRAD2
Low Density Lipoprotein Receptor Class A Domain Containing 2
Gene Information Card
| Symbol | LDLRAD2 |
|---|---|
| Full Name | Low Density Lipoprotein Receptor Class A Domain Containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 401944 ncbi.nlm.nih.gov/gene/401944 |
| Ensembl ID | ENSG00000187764 |
| UniProt ID | Q5T700 |
| OMIM ID | 616447 |
| HGNC ID | 37239 |
| Aliases | MGC16384, bA350O14.2 |
Description
LDLRAD2 encodes a protein containing a low-density lipoprotein receptor class A domain, which is involved in ligand binding and endocytosis. The gene is located on chromosome 1p36.13 and is expressed in various tissues, with highest levels in the brain and testis. Its function is not fully characterized but may relate to lipid metabolism or cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
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)
| • endocytosis | • receptor-mediated endocytosis |
| • low-density lipoprotein particle receptor activity | • integral component of membrane |
Pathways
• Lipoprotein metabolism
• Clathrin-mediated endocytosis
Protein Summary
The LDLRAD2 protein is a single-pass type I membrane protein containing a LDL receptor class A domain. It is predicted to function in receptor-mediated endocytosis, potentially binding and internalizing ligands. Its precise biological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDLRAD2 Knockout HEK293 Cell Line | EDJ-KQ11659 | Human | 401944 | Details Get a Quote |
| LDLRAD2 Knockout HeLa Cell Line | EDJ-KQ40011 | Human | 401944 | Details Get a Quote |
| LDLRAD2 Knockout A-549 Cell Line | EDJ-KQ68782 | Human | 401944 | Details Get a Quote |
| LDLRAD2 Knockout HCT 116 Cell Line | EDJ-KQ77145 | Human | 401944 | Details Get a Quote |
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