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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LDLR Gene

protein-coding GIFtS: 70
GCID: GC19P011200

low density lipoprotein receptor

Explore 125 diseases affiliated with
LDLR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Low Density Lipoprotein Receptor¹ ²		LDLCQ2² ⁵
LDL Receptor² ³		Low-Density Lipoprotein Receptor²
FH² ⁵		Low-Density Lipoprotein Receptor Class A Domain-Containing Protein 3²
FHC² ⁵

External Ids:	HGNC: 6547¹	Entrez Gene: 3949²	Ensembl: ENSG00000130164⁷	OMIM: 606945⁵	UniProtKB: P01130³

Export aliases for LDLR gene to outside databases

Previous GC identifers: GC19P011331 GC19P011045 GC19P011061 GC19P010777

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LDLR:

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated

endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into

the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of

microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol

synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this

gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple

transcript variants.(provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: LDLR_HUMAN, P01130

Function: Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis.

In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of

HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected

cells

Gene Wiki entry for LDLR (LDL receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LDLR gene promoter:
C/EBPbeta AP-2alpha isoform 3 AP-1 AP-2alpha isoform 2 PPAR-gamma1 PPAR-gamma2 AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LDLR promoter sequence

Search SABiosciences Chromatin IP Primers for LDLR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LDLR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.2

LDLR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LDLR gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P011200: view genomic region (about GC identifiers)

Start:	11,200,038 bp from pter	End:	11,244,506 bp from pter
Size:	44,469 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LDLR_HUMAN, P01130 (See protein sequence)

Recommended Name: Low-density lipoprotein receptor precursor

Size: 860 amino acids; 95376 Da

Subunit: Interacts with LDLRAP1, ARRB1, SNX17. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction

is impaired by tyrosine phosphorylation of the NPXY motif. Interacts with the full length immature form of PCSK9 (via

C-terminus). Interacts with HCV E1/E2 heterodimer. Interacts with HIV-1 Tat

Subcellular location: Cell membrane; Single-pass type I membrane protein. Endomembrane system; Single-pass type I

membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein. Golgi apparatus. Early endosome.

Late endosome. Cell surface. Lysosome. Note=Found distributed from the plasma membrane to intracellular compartments.

Localizes to the Golgi apparatus, early and late endosomes/lysosomes and cell surface in the presence of PCSK9

Sequence caution: Sequence=BAD92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6/28 PDB 3D structures from and Proteopedia for LDLR (see all 28):

1AJJ (3D)

1D2J (3D)

1F5Y (3D)

1F8Z (3D)

1HJ7 (3D)

1HZ8 (3D)

Secondary accessions: B4DJZ8 B4DR00 B4DTQ3 C0JYY8 H0YLU8 Q53ZD9 Q59FQ1 Q9UDH7

Alternative splicing: 5 isoforms: P01130-1 P01130-2 P01130-3 P01130-4 P01130-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LDLR: NX_P01130

Post-translational modifications:

N- and O-glycosylated¹

Ubiquitinated by MYLIP leading to degradation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01130

LDLR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_000518.1 NP_001182727.1 NP_001182728.1 NP_001182729.1 NP_001182731.1 NP_001182732.1

ENSEMBL proteins:

ENSP00000454071 ENSP00000453557 ENSP00000397829 ENSP00000440520 ENSP00000437639

ENSP00000454147 ENSP00000453346 ENSP00000252444 ENSP00000453513 ENSP00000453696

Reactome Protein details: P01130
Human Recombinant Protein Products for LDLR:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for LDLR (LDL R)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: LDLR OriGene Protein Over-expression Lysate: LDLR OriGene Custom Protein Services for LDLR
	GenScript Custom Purified and Recombinant Proteins Services for LDLR
	Novus Biologicals LDLR Proteins Novus Biologicals LDLR Lysates
	Sino Biological Recombinant Protein for LDLR
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for LDLR

Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IDA	15166224
GO:0005768	endosome	--	--
GO:0005769	early endosome	IDA	15166224
GO:0005770	late endosome	IDA	17461796
GO:0005794	Golgi apparatus	IDA	17461796

LDLR for ontologies About GeneDecksing

LDLR Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of LDLR
	R&D Systems Antibodies for LDLR (LDL R)
	OriGene Antibodies (see all 3): LDLR OriGene Custom Antibody Services for LDLR
	GenScript Custom Superior Antibodies Services for LDLR
	Novus Biologicals LDLR Antibodies
	Abcam antibodies for LDLR
	Uscn Antibodies for LDLR
	ThermoFisher Antibodies for LDLR

Assay Products for LDLR:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for LDLR (LDL R)
	GenScript Custom Assay Services for LDLR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for LDLR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LDLR for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR000033 LDLR_classB_rpt

IPR023415 LDLR_class-A_CS

IPR000742 EG-like_dom

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

Graphical View of Domain Structure for InterPro Entry P01130

ProtoNet protein and cluster: P01130

4 Blocks protein families:

IPB000033 Low-density lipoprotein receptor

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001881 EGF-like calcium-binding

IPB002172 Low density lipoprotein-receptor

UniProtKB/Swiss-Prot: LDLR_HUMAN, P01130

Domain: The NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization (By

similarity)

Similarity: Belongs to the LDLR family

Similarity: Contains 3 EGF-like domains

Similarity: Contains 7 LDL-receptor class A domains

Similarity: Contains 6 LDL-receptor class B repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LDLR_HUMAN, P01130

Function: Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis.

In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of

HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected

cells

Genatlas biochemistry entry for LDLR:

lipoprotein,low density,receptor

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001948	glycoprotein binding	IPI	10571240
GO:0005041	low-density lipoprotein receptor activity	IDA	6091915
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	17452316
GO:0030169	low-density lipoprotein particle binding	IEA	--

LDLR for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for LDLR:

Increased viability after born

15/19 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ldlr) (see all 19):

adipose tissue	behavior/neurological	cardiovascular system	cellular	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	integument
liver/biliary system	mortality/aging	muscle	nervous system	no phenotypic analysis

LDLR for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Ldlr^tm1Her for LDLR

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LDLR

miRNA Products:		OriGene 3'-UTR Clone: LDLR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LDLR
		8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate LDLR (see all 51):
		hsa-miR-140-5p hsa-miR-106a hsa-miR-128 hsa-miR-301a hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-3658

		SwitchGear 3'UTR luciferase reporter plasmid: LDLR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LDLR (see all 7) OriGene shRNA RFP: LDLR OriGene siRNA: LDLR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LDLR
		Sirion Biotech Custom design and validation of potent shRNA sequences against LDLR

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for LDLR
			Sirion Biotech Customized adenovirus for overexpression of LDLR Sirion Biotech Customized adenovirus for potent knockdown of LDLR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LDLR (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LDLR OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): LDLR (NM_000527)
		Sino Biological Human cDNA Clone for LDLR
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LDLR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LDLR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for LDLR
		Search LifeMap BioReagents cell lines for LDLR
		Sirion Biotech Customized stable knockdown cell line services for LDLR Sirion Biotech Customized inducible knockdown cell line services for LDLR Sirion Biotech Customized stable overexpressing cell line services for LDLR Sirion Biotech Customized inducible overexpressing cell line services for LDLR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LDLR

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lipoprotein metabolism

	Lipoprotein metabolism	1.00			Lipid digestion, mobilization, and transport	0.56
	Chylomicron-mediated lipid transport	0.57

Retinoid metabolism and transport

	Retinoid metabolism and transport	1.00			Diseases associated with visual transduction	0.73
	Visual phototransduction	0.74

Wnt Signaling Pathway

	Wnt Signaling Pathway	1.00			DNA damage response (only ATM dependent)	0.35
	Wnt Signaling Pathway and Pluripotency	0.55

G-protein signaling_Ras family GTPases in kinase cascades (scheme)

	Immune response Oncostatin M signaling via MAPK in human cells	0.39			Oncostatin M Signaling Pathway	0.15
	Immune response_Oncostatin M signaling via MAPK in human cells	0.39

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for LDLR

	Immune response Oncostatin M signaling via MAPK in human cells
	Transcription Ligand-dependent activation of the ESR1/SP pathway

1 R&D Systems Pathway for LDLR

A-beta Uptake & Degradation

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for LDLR

SREBP Proteolysis

3 GeneGo (Thomson Reuters) Pathways for LDLR

	Transcription Ligand-dependent activation of the ESR1/SP pathway
	Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
	Immune response Oncostatin M signaling via MAPK in human cells

5/7 BioSystems Pathways for LDLR (see all 7)

	Statin Pathway
	SREBP signalling
	Wnt Signaling Pathway and Pluripotency
	DNA damage response (only ATM dependent)
	Oncostatin M Signaling Pathway

5/11 Reactome Pathways for LDLR (see all 11)

	Diseases associated with visual transduction
	Metabolism
	Chylomicron-mediated lipid transport
	Visual phototransduction
	Disease

1 PharmGKB Pathway for LDLR

Statin Pathway, Pharmacodynamics

4 Kegg Pathways (Kegg details for LDLR):

	Endocytosis
	Bile secretion
	Toxoplasmosis
	Hepatitis C

LDLR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LDLR

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/23 Interacting proteins for LDLR (P01130^{2, 3} ENSP00000252444⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FLT1	P17948²^,³, ENSP00000282397⁴	MINT-6177193 MINT-6177086 I2D: score=3 STRING: ENSP00000282397
CREBBP	Q92793²^,³, ENSP00000262367⁴	MINT-6804492 I2D: score=1 STRING: ENSP00000262367
PDIA3	P30101²^,³	MINT-4301346 I2D: score=1
DAB1	O75553³, ENSP00000360277⁴	I2D: score=5 STRING: ENSP00000360277
SNX17	Q15036³, ENSP00000233575⁴	I2D: score=5 STRING: ENSP00000233575

About this table

Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	TAS	--
GO:0006897	endocytosis	TAS	12671190
GO:0006898	receptor-mediated endocytosis	TAS	--
GO:0007568	aging	--	--
GO:0008203	cholesterol metabolic process	IEA	--

LDLR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LDLR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LDLR

2 DrugBank Compounds for LDLR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Porfimer	DHP ether (see all 3)	87806-31-3	target	other/unknown	7994588 2945739 1531856 1450993 7661580
Alpha-D-Mannose	--	3458-28-4	target	--	17139284 17016423

10/123 Novoseek chemical compound relationships for LDLR gene (see all 123) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hbgg	95.1	107	12960666 (3), 10582364 (3), 11005173 (3), 7595304 (2) (see all 71)
cholesterol	89.3	865	11369802 (7), 11387232 (5), 1318843 (5), 8820113 (5) (see all 99)
sterol	83.7	132	18704882 (3), 11058701 (3), 18852694 (3), 11997513 (2) (see all 86)
3-hydroxy-3-methylglutaryl-coa	76.6	45	15736419 (3), 2176080 (2), 9096609 (2), 9405278 (2) (see all 26)
25-hydroxycholesterol	75.6	27	14704295 (3), 17156886 (2), 2007178 (1), 7510705 (1) (see all 19)
lipid	75.3	225	16099208 (4), 17258176 (3), 14744149 (3), 7861934 (3) (see all 99)
cholesterol ester	74.9	14	1998641 (1), 2007178 (1), 1310398 (1), 10843165 (1) (see all 12)
lovastatin	68.3	51	9196047 (4), 8800498 (3), 18266936 (3), 8765518 (2) (see all 30)
lifibrol	61.8	8	11058701 (3), 10447220 (2), 15989622 (1)
pravastatin	60.2	24	7695485 (4), 9409246 (4), 1658544 (2), 2118022 (2) (see all 15)

2 PharmGKB related drug/compound annotations for LDLR gene About this table

Drug/compound	PharmGKB Annotation
atenolol	CA
atorvastatin	DL

Search CenterWatch for drugs/clinical trials and news about LDLR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LDLR gene (6 alternative transcripts):

NM_000527.4 NM_001195798.1 NM_001195799.1 NM_001195800.1 NM_001195802.1 NM_001195803.1

Unigene Clusters for LDLR:

Low density lipoprotein receptor

Hs.213289 , Hs.713981 [show with all ESTs]

Unigene Representative Sequences: AA069104, BX648281

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000558518 ENST00000557933 ENST00000560502 ENST00000557958 ENST00000455727

ENST00000535915 ENST00000545707 ENST00000561343 ENST00000558013 ENST00000252444(uc010xlk.2 uc002mqk.4 uc010xll.2 uc021upc.1 uc010xln.2 uc010xlo.2 uc010xlm.2 uc021upd.1 uc010dxu.3)

ENST00000560467 ENST00000558528 ENST00000560173 ENST00000559340 ENST00000560628

miRNA Products:		OriGene 3'-UTR Clone: LDLR Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LDLR
		8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate LDLR (see all 51):
		hsa-miR-140-5p hsa-miR-106a hsa-miR-128 hsa-miR-301a hsa-miR-30d hsa-miR-519a hsa-miR-30a hsa-miR-3658

		SwitchGear 3'UTR luciferase reporter plasmid: LDLR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LDLR (see all 7) OriGene shRNA RFP: LDLR OriGene siRNA: LDLR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LDLR
		Sirion Biotech Custom design and validation of potent shRNA sequences against LDLR

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LDLR (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LDLR OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): LDLR (NM_000527)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LDLR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LDLR

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LDLR Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LDLR
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LDLR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LDLR

Additional cDNA sequence:

AB209409.1 AK295612.1 AK296312.1 AK299038.1 AK300313.1 AY114155.1 BC014514.1 BT007361.1

BX648281.1 HM369522.1 S40543.1 S70123.1

24/26 DOTS entries (see all 26):

DT.452779 DT.95271366 DT.121501937 DT.121501978 DT.91837436 DT.97772192 DT.100787201 DT.100787202

DT.100038654 DT.100787198 DT.100787204 DT.121501984 DT.91651232 DT.91773660 DT.40265315 DT.95271367

DT.100038656 DT.121501940 DT.121502014 DT.121502018 DT.40115062 DT.91773653 DT.91991166 DT.100841945

6 AceView cDNA sequences:

AY114155 BT007361 NM_000527 BC014514 BX648281 S70123

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for LDLR (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17a	·	17b	^
SP1:									-				-																				-																-
SP2:									-				-																				-																-
SP3:																									-		-
SP4:
SP5:									-

ExUns:	18a	·	18b	·	18c
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for LDLR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LDLR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCGAGCCAC

About this image

LDLR expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Mature brain microvascular endothelial cells (Derivation of blood-...)

Hepatocyte-like cells (Functional hepatocyt...)

Immature hepatocytes (Functional, immature...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LDLR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LDLR

SOURCE GeneReport for Unigene clusters: Hs.213289 Hs.713981

SABiosciences Expression via Pathway-Focused PCR Arrays including LDLR:

Insulin Signaling Pathway in human mouse rat

Atherosclerosis in human mouse rat

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Fatty Liver in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for LDLR gene from 3/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	LDLR⁶	--	67(a)	1 ↔ 1	2(79631065-79648162)
African clawed frog (Xenopus laevis)	Amphibia	LOC397757²	low density lipoprotein receptor-1	77.32(n)		M62976.1
zebrafish (Danio rerio)	Actinopterygii	ldlr¹	low density lipoprotein receptor	63.35(n) 61.71(a)		387529 NM_001030283.1 NP_001025454.1

ENSEMBL Gene Tree for LDLR (if available)
TreeFam Gene Tree for LDLR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LDLR gene

LRP5² LRP6² LRP2² SORL1² LRP1B² EGF² LRP5L² LRP4²

VLDLR² NID2² NID1² LRP8² LRP1²

18/25 SIMAP similar genes for LDLR using alignment to 11 protein entries: LDLR_HUMAN (see all proteins) (see all similar genes):

ldlr EFEMP2 LRP5 LRP8 VLDLR LTBP1

PROS1 SCUBE2 LRP6 FBLN2 EGF LRP5L

NID2 LRP4 LRP3 MATN2 LTBP4 LTBP3

LDLR for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137943601^1,2	C	pathogenic	11223989(+)	`GGCACG/AAGGTC`	12	/K /E	mis¹		1		NA	4538
rs28942083^1,2	C	pathogenic	11231058(+)	`CTGGTA/GTGAGA`	11	Y C	mis¹ int¹		0	--	--	--	--
rs146354103^1,2	C,F	probable-non-pathogenic	11216089(+)	`GACAAC/TGACCC`	10	N	syn¹ int¹		2		NA EU	5875
rs138315511^1,2	C	probable-pathogenic	11222214(+)	`TCCCGA/CCACCT`	12	D A	mis¹		1		NA	4552
rs137853964^1,2	C,F	probable-pathogenic	11240278(+)	`ACCCCG/ATCTAT`	12	/I /V	mis¹		2		NA EU	5875
rs137853960^1,2	C,F	untested	11210979(+)	`GCAGCA/G/TCTGAG`	16	T A S	mis¹ int¹		2		NA EU	5873
rs112029328^1,2	C,F	untested	11213463(+)	`CTGTCA/C/GTAAGT`	6	--	spd¹ int¹		2		CSA EU	1324
rs137853961^1,2	C	untested	11224123(+)	`ATCTGC/TAGGTG`	12	C	syn¹		1		EU	1279
rs137853962^1,2	C,F	untested	11230797(+)	`ATCAAC/TGAAGC`	12	N	syn¹		2		NA EU	5873
rs137853963^1,2	C,F	untested	11233940(+)	`CACCCG/AACCTG`	12	/Q /R	mis¹		1		EU	1323

HapMap Linkage Disequilibrium report for LDLR (11200038 - 11244506 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LDLR: --
Human Gene Mutation Database (HGMD): LDLR

Locus Specific Mutation Databases (LSDB): LDLR

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LDLR

DNA2.0 Custom Variant and Variant Library Synthesis for LDLR

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LDLR for disorders           About GeneDecksing

OMIM gene information: 606945
OMIM disorders: 143890
UniProtKB/Swiss-Prot: LDLR_HUMAN, P01130

Defects in LDLR are the cause of familial hypercholesterolemia (FH) [MIM:143890]; a common autosomal

semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and

the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma),

tendons (xanthomas), and coronary arteries (atherosclerosis)

20/125 diseases for LDLR (see all 125): About MalaCards

hypercholesterolemia smith-lemli-opitz syndrome defective apolipoprotein b-100 ldl cholesterol level qtl2

angle-closure glaucoma familial hypercholesterolemia open-angle glaucoma cholesterol level qtl 2

cholesteryl ester storage disease primary angle-closure glaucoma hyperlipoproteinemia type iii cholesterol

arcus senilis chronic progressive external ophthalmoplegia primary open angle glaucoma migraine without aura

cetp deficiency inclusion body myositis patent ductus arteriosus hyperlipoproteinemia

2 diseases from the University of Copenhagen DISEASES database for LDLR:

Familial hypercholesterolemia Suppression amblyopia

10/92 Novoseek disease relationships for LDLR gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypercholesterolemia familial	96.7	320	19319977 (3), 1677927 (2), 9889019 (2), 17625505 (2) (see all 99)
apolipoprotein b-100, familial defective	91.3	24	2313203 (1), 1453124 (1), 1347103 (1), 1600334 (1) (see all 23)
hypercholesterolemia, autosomal dominant	89.5	20	17964958 (2), 15767856 (2), 20144596 (1), 17566095 (1) (see all 14)
hypercholesterolemia	88.7	240	18726262 (3), 17784865 (3), 10064736 (3), 19538517 (3) (see all 99)
hypercholesterolemia, autosomal recessive	88.4	13	12464675 (1), 18417616 (1), 15327785 (1), 20356098 (1) (see all 8)
atherosclerosis	79.4	126	11369802 (5), 18198584 (4), 12208466 (3), 17234631 (3) (see all 89)
xanthoma	79	9	8551675 (1), 10208489 (1), 20428891 (1), 19439299 (1) (see all 7)
hyperlipoproteinemia type iii	74.1	4	9777289 (1), 19106071 (1), 11076954 (1), 15863833 (1)
hypocholesterolemia	73	3	7829645 (2), 8625123 (1)
hyperlipoproteinemia	68.7	5	10525128 (2), 15450205 (1), 16207455 (1)

Genatlas disease: LDLR

familial hypercholesterolemia,hyperlipoproteinemia,type IIa,characterized by a selective increase of LDL particles in

plasma giving rise to tendon and skin xanthomas,arcus corneae and premature mortality from cardiovascular

complications,autosomal dominant with a gene dosage effect and a more severe phenotype in homozygotes

Genetic Association Database (GAD): LDLR
Human Genome Epidemiology (HuGE) Navigator: LDLR (447 documents)

Export disorders for LDLR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LDLR gene, integrated from 9 sources (see all 1823):
(articles sorted by number of sources associating them with LDLR)

Utopia: connect your pdf to the dynamic
world of online information

The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR. (PubMed id 17461796)^{1, 2, 9} Nassoury N....Seidah N.G. (2007)
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. (PubMed id 19319977)^{1, 2, 9} Abifadel M.... Boileau C. (2009)
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. (PubMed id 9678702)^{1, 2, 9} Lee W.K....Dominiczak A.F. (1998)
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. (PubMed id 17142622)^{1, 2, 9} Humphries S.E.... Neil H.A.W. (2006)
[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.] (PubMed id 15477777)^{1, 4, 9} Meshkov A.N....Malyshev P.P. (2004)
Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease. (PubMed id 15133863)^{1, 4, 9} Jiang Z.Y....Zhang S.D. (2004)
[Interaction of ApoE and LDL-R gene polymorphisms and alcohol drinking and smoking on coronary heart disease] (PubMed id 15144588)^{1, 4, 9} Wang C.H....Zheng F. (2004)
Investigation of an LDLR gene polymorphism (19p13.2) in susceptibility to migraine without aura. (PubMed id 12873747)^{1, 4, 9} Mochi M....Montagna P. (2003)
[Distribution of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC locus alleles in the population of Russia] (PubMed id 12165956)^{1, 4, 9} Kornienko I.V....Ivanov P.L. (2002)
Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci. (PubMed id 12189808)^{1, 4, 9} Morera B....Morales-Cordero A.I. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3949	HGNC: 6547	AceView: LDLR	Ensembl:ENSG00000130164	euGenes: HUgn3949
ECgene: LDLR	Kegg: 3949	H-InvDB: LDLR

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for LDLR	Pharmacogenomics, SNPs, Pathways
LDLR	http://www.ucl.ac.uk/fh/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDLR
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LDLR

Intellectual Property for LDLR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LDLR gene:
Search GeneIP for patents involving LDLR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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LDLR Gene

low density lipoprotein receptor

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HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
Migraine
Hyperinsulinemia
HYPERALPHALIPOPROTEINEMIA
Hyperlipidemia
Myocardial Ischemia
Liver diseases
Atherosclerosis
Breast Cancer
ENDOGENOUS HYPERTRIGLYCERIDEMIA
Pure hypercholesterolemia
Hyperthyroidism
Antiphospholipid Syndrome
Schizophrenia
Hypercholesterolemia
Adenocarcinoma
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
cell damage
Cancer
CETP DEFICIENCY
Aortic Stenosis Supravalvular
Colorectal Carcinoma
Lymphoma
Coronary Atherosclerosis
Xanthomatosis
Hyperlipidemia Familial Combined
mammary tumor
Lipid Disorders
Dyslipidemia
Cardiac Death
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Colorectal Cancer
Inflammation
Xanthoma
Hepatitis
Hyperlipoproteinemia Type III
Psoriasis
familial disorder
prostate cancer
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metabolic disorder
Sarcoma
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Hepatoblastoma
Melanoma B16
SMOKING HABIT
virus infection
Sarcoma Avian
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COLON TUMOR
APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
Hypoalphalipoproteinemia
Sarcoma Rous
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atherosclerotic plaque
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neurodegeneration
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dyslipoproteinemia
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Adenoma
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OBESITY
Avian Leukosis
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Carcinoma Squamous Cell
Colorectal Tumors
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HYPOCHOLESTEROLEMIA
STROKE
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CEREBROVASCULAR DISEASE
genetic disorder
NIDDM
Hypercholesterolemia Familial

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LDLR Gene

low density lipoprotein receptor

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