LRP2 Chromosome 2
LDL receptor related protein 2
Upload your DNA to see your personal genotypes for variants in LRP2.
What This Gene Does
The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000081479
Associated Conditions (18)
Donnai-Barrow syndrome
LRP2-related disorder
Inborn genetic diseases
Intellectual disability
DSD incomplete virilization
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Lung cancer
Familial cancer of breast
Hearing impairment
Prolactin-producing pituitary gland adenoma
High myopia
Non-syndromic syndactyly
Retinal dystrophy
Malignant tumor of urinary bladder
Key Variants
RS1005852754
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, Donnai-Barrow syndrome
Health Risk
RS111360923
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, LRP2-related disorder, Inborn genetic diseases
Health Risk
RS115350461
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, Donnai-Barrow syndrome
Health Risk
RS1163346501
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, Donnai-Barrow syndrome
Health Risk
RS116507519
Conflicting classifications of pathogenicity
LRP2-related disorder, LRP2-related disorder
Health Risk
RS1188846190
Conflicting classifications of pathogenicity
Health Risk
RS1222200565
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1254126085
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, Donnai-Barrow syndrome
Health Risk
RS1318786246
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1326475927
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, Inborn genetic diseases, Donnai-Barrow syndrome
Health Risk
RS1347798617
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, Donnai-Barrow syndrome
Health Risk
RS1361454479
Conflicting classifications of pathogenicity
Donnai-Barrow syndrome, Donnai-Barrow syndrome
Health Risk
All Variants (386)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1574121486 | Health Risk | Likely pathogenic | — |
| RS1685554004 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS1686193080 | Health Risk | Likely pathogenic | — |
| RS1686375136 | Health Risk | Likely pathogenic | — |
| RS1687102215 | Health Risk | Likely pathogenic | — |
| RS1687843772 | Health Risk | Likely pathogenic | — |
| RS1689862418 | Health Risk | Likely pathogenic | — |
| RS2105278575 | Health Risk | Likely pathogenic | — |
| RS2105329431 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS2105337522 | Health Risk | Likely pathogenic | — |
| RS2105343563 | Health Risk | Likely pathogenic | — |
| RS2105348670 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS2105443879 | Health Risk | Likely pathogenic | — |
| RS2105467271 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS2105516384 | Health Risk | Likely pathogenic | — |
| RS2528390555 | Health Risk | Likely pathogenic | — |
| RS2528401900 | Health Risk | Likely pathogenic | — |
| RS2528428435 | Health Risk | Likely pathogenic | — |
| RS2528483163 | Health Risk | Likely pathogenic | — |
| RS2528491247 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS2528548714 | Health Risk | Likely pathogenic | — |
| RS2528559979 | Health Risk | Likely pathogenic | — |
| RS2528617056 | Health Risk | Likely pathogenic | — |
| RS2528617066 | Health Risk | Likely pathogenic | — |
| RS2528617075 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS2528671145 | Health Risk | Likely pathogenic | — |
| RS2545660610 | Health Risk | Likely pathogenic | — |
| RS2545663203 | Health Risk | Likely pathogenic | — |
| RS2545688229 | Health Risk | Likely pathogenic | — |
| RS2545699853 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS2545700340 | Health Risk | Likely pathogenic | — |
| RS2545730946 | Health Risk | Likely pathogenic | — |
| RS2545755689 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS2545805164 | Health Risk | Likely pathogenic | — |
| RS2545805212 | Health Risk | Likely pathogenic | — |
| RS745765868 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Thyroid cancer, nonmedullary |
| RS750476171 | Health Risk | Likely pathogenic | — |
| RS752197557 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS753667280 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS760114690 | Health Risk | Likely pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS764086211 | Health Risk | Likely pathogenic | — |
| RS772158739 | Health Risk | Likely pathogenic | — |
| RS111909155 | Health Risk | Pathogenic | — |
| RS1173511942 | Health Risk | Pathogenic | — |
| RS1230676326 | Health Risk | Pathogenic | — |
| RS1237905737 | Health Risk | Pathogenic | — |
| RS1310470715 | Health Risk | Pathogenic | LRP2-related disorder, LRP2-related disorder |
| RS1339177368 | Health Risk | Pathogenic | — |
| RS1364297209 | Health Risk | Pathogenic | Donnai-Barrow syndrome, Donnai-Barrow syndrome |
| RS1368584894 | Health Risk | Pathogenic | — |