LDLR (low density lipoprotein receptor)

2008-07-01  

Identity

HGNC
LDLR
LOCATION
19p13.2
LOCUSID
3949
ALIAS
FH,FHC,FHCL1,LDLCQ2
FUSION GENES
Show Gene Fusions

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
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
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
cerebral cortex
cerebellum
hippocampus
caudate
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
bone marrow

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
381828872024LDLR is an entry receptor for Crimean-Congo hemorrhagic fever virus.8
382364362024Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.0
382557632024iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia.0
384336052024A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.1
385133362024High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.0
385146652024Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.0
386162602024Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia.0
388672702024LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia.0
381828872024LDLR is an entry receptor for Crimean-Congo hemorrhagic fever virus.8
382364362024Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.0
382557632024iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia.0
384336052024A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.1
385133362024High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.0
385146652024Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.0
386162602024Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia.0

Citation

Dessen P

LDLR (low density lipoprotein receptor)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50170/case-report-explorer/css/favicon/favicon-32x32.png