LRP2 (LDL receptor related protein 2)

2007-12-01  

Identity

HGNC
LRP2
LOCATION
2q31.1
LOCUSID
4036
ALIAS
DBS,GP330,LRP-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4036
MIM: 600073
HGNC: 6694
Ensembl: ENSG00000081479

Variants:

dbSNP: 4036
ClinVar: 4036
TCGA: ENSG00000081479
COSMIC: LRP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081479ENST00000443831E9PC35
ENSG00000081479ENST00000649046P98164
ENSG00000081479ENST00000649153A0A3B3IT64
ENSG00000081479ENST00000650252A0A3B3IRR0

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Hedgehog signaling pathwayKEGGhsa04340
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Vitamin D (calciferol) metabolismREACTOMER-HSA-196791
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162263534OtotoxicityDiseaseVariantAnnotationassociatedPD23274376
PA445062NeoplasmsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD17457342, 23274376, 31666714
PA449014cisplatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD17457342, 23274376, 31666714

References

Pubmed IDYearTitleCitations
380088182024Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea.0
387718802024Cryo-EM structures elucidate the multiligand receptor nature of megalin.0
380088182024Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea.0
387718802024Cryo-EM structures elucidate the multiligand receptor nature of megalin.0
367500962023Structures of LRP2 reveal a molecular machine for endocytosis.7
368072412023Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.4
368636582023The endocytosis receptor megalin: From bench to bedside.3
368751582023Regulation of Prostate Androgens by Megalin and 25-hydroxyvitamin D Status: Mechanism for High Prostate Androgens in African American Men.5
374069292023Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome.1
375946712023Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?0
367500962023Structures of LRP2 reveal a molecular machine for endocytosis.7
368072412023Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.4
368636582023The endocytosis receptor megalin: From bench to bedside.3
368751582023Regulation of Prostate Androgens by Megalin and 25-hydroxyvitamin D Status: Mechanism for High Prostate Androgens in African American Men.5
374069292023Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome.1

Citation

Dessen P

LRP2 (LDL receptor related protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49946