LDLR (low density lipoprotein receptor)

2008-07-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
FH,FHC,FHCL1,LDLCQ2
FUSION GENES

Other Information

Locus ID:

NCBI: 3949
MIM: 606945
HGNC: 6547
Ensembl: ENSG00000130164

Variants:

dbSNP: 3949
ClinVar: 3949
TCGA: ENSG00000130164
COSMIC: LDLR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130164ENST00000252444J3KMZ9
ENSG00000130164ENST00000455727P01130
ENSG00000130164ENST00000535915P01130
ENSG00000130164ENST00000545707P01130
ENSG00000130164ENST00000557933H0YMD1
ENSG00000130164ENST00000558013P01130
ENSG00000130164ENST00000558518P01130
ENSG00000130164ENST00000558518A0A024R7D5
ENSG00000130164ENST00000559340H0YMQ3
ENSG00000130164ENST00000560467H0YM92

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
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
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
LDL-mediated lipid transportREACTOMER-HSA-171052
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164749390peginterferon alfa-2aChemicalClinicalAnnotationassociatedPD21572301
PA164784024peginterferon alfa-2bChemicalClinicalAnnotationassociatedPD21572301
PA166114922lomitapideChemicalLabelAnnotationassociated
PA166114927mipomersenChemicalLabelAnnotationassociated
PA166114942familial hypercholesterolemiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249
PA166159961alirocumabChemicalLabelAnnotationassociated
PA166160027evolocumabChemicalLabelAnnotationassociated
PA38617PCSK9GeneDataAnnotationassociated
PA443797Coronary DiseaseDiseaseVariantAnnotationassociatedPD
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD
PA446021Vascular DiseasesDiseaseClinicalAnnotationassociatedPD
PA446863Hepatitis C, ChronicDiseaseClinicalAnnotationassociatedPD21572301
PA447230HIVDiseaseClinicalAnnotationassociatedPD21572301
PA448499atenololChemicalClinicalAnnotationassociatedPD
PA448500atorvastatinChemicalLabelAnnotationassociated
PA450272lovastatinChemicalClinicalAnnotationassociatedPD16103896
PA451089pravastatinChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotationassociatedPD
PA451241ribavirinChemicalClinicalAnnotationassociatedPD21572301
PA50APOBGeneDataAnnotationassociated

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
190609112009Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.392
183541022008Polymorphisms associated with cholesterol and risk of cardiovascular events.250
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
174523162007Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation.179
124595472002Structure of the LDL receptor extracellular domain at endosomal pH.151
235898502013LDL receptor and its family members serve as the cellular receptors for vesicular stomatitis virus.144
220591522011An LXR agonist promotes glioblastoma cell death through inhibition of an EGFR/AKT/SREBP-1/LDLR-dependent pathway.108

Citation

Dessen P

LDLR (low density lipoprotein receptor)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50170/ldlr-(low-density-lipoprotein-receptor)