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LDLR Gene

protein-coding GIFtS: 69

GC19P011061

low density lipoprotein receptor
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
FH ^², ⁵
FHC ^², ⁵
LDLCQ2 ^², ⁵

Descriptions
LDL receptor ^², ³
low density lipoprotein receptor ^²
low-density lipoprotein receptor class A domain-containing protein 3 ^²

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

Search outside databases for aliases for LDLR gene

Previous GC identifers: GC19P011331 GC19P011045

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

EntrezGene 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.

[provided by RefSeq]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the LDLR gene

Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.3

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

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P011061: (about GC identifiers)

Start:	11,061,132 bp from pter
End:	11,105,490 bp from pter
Size:	44,359 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000019.8 NT_011295.10

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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. Interacts with SNX17. Interacts with HCV E1/E2 heterodimer.

Interacts with HIV-1 Tat

Subcellular location: Membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit;

Single-pass type I membrane protein

PDB structures from and Proteopedia :

1AJJ (3D)

1D2J (3D)

1F5Y (3D)

1F8Z (3D)

1HJ7 (3D)

1HZ8 (3D)

1I0U (3D)

1IJQ (3D)

1LDL (3D)

1LDR (3D)

1LRX (3D)

1N7D (3D)

1XFE (3D)

2FCW (3D)

2W2M (3D)

2W2N (3D)

2W2O (3D)

2W2P (3D)

2W2Q (3D)

3BPS (3D)

3GCW (3D)

3GCX (3D)

Secondary accessions: Q53ZD9

Post-translational modifications:

N- and O-glycosylated¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000518.1

ENSEMBL proteins:

ENSP00000252444

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for LDLR (LDL R)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (LDL Receptor)
	Human Recombinant Proteins from Abnova (LDLR)

OriGene Purified Recombinant Human Protein: LDLR

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005768	endosome	IEA	--
GO:0005886	plasma membrane	TAS	2777800
GO:0005887	integral to plasma membrane	TAS	6327078
GO:0005905	coated pit	IEA	--
GO:0010008	endosome membrane	EXP	221835

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Antibodies for LDLR:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of LDLR
	Sigma-Aldrich Antibodies for LDLR
	R&D Systems Antibodies for LDLR (LDL R)
	Antibodies from Abcam (LDL Receptor), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (LDLR)
	Novus Biologicals Antibodies for LDLR

Assays for LDLR:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LDLR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (LDLR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000527

Applied Biosystems Silencer® siRNAs for LDLR

Sigma-Aldrich siRNA and siRNA Panels for LDLR

Sigma-Aldrich shRNA Panels and shRNA for LDLR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000527
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000527
untagged cDNA clone in CMV expression vector: NM_000527

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000527

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

Genatlas biochemistry entry for LDLR:

lipoprotein,low density,receptor

15/16 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ldlr) (see all 16 ):

	adipose tissue	behavior/neurological	cellular	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	life span-post-weaning/aging
liver/biliary system	nervous system	no phenotypic analysis	normal	skin/coat/nails

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004888	transmembrane receptor activity	TAS	6091915
GO:0005041	low-density lipoprotein receptor activity	TAS	2777800
GO:0005509	calcium ion binding	IEA	--
GO:0030229	very-low-density lipoprotein receptor activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for LDLR (Your Favorite Gene powered by Ingenuity)

Clathrin-mediated Endocytosis
LXR/RXR Activation
TR/RXR Activation

GeneDecks LDLR for the pathways selected above

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

5/85 Interacting proteins for LDLR (P01130² ENSP00000252444³) via UniProtKB, MINT, and/or STRING (see all 85 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FLT1	P17948²	MINT-6177193 MINT-6177086
CREBBP	Q92793²	MINT-6804492
PDIA3	P30101²	MINT-4301346
APOB	ENSP00000233242³	STRING (score=.999)
APOE	ENSP00000252486³	STRING (score=.999)

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5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006493	protein amino acid O-linked glycosylation	TAS	6091915
GO:0006629	lipid metabolic process	TAS	6299582 10827173
GO:0006869	lipid transport	IEA	--
GO:0006897	endocytosis	TAS	12671190
GO:0008202	steroid metabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for LDLR
10/37 Novoseek chemical compound relationships for LDLR gene (see all 37 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hbgg	95.25	107	12960666 (3), 10582364 (3), 11005173 (3), 7595304 (2) (see all 71)
cholesterol	89.28	814	11369802 (7), 11387232 (5), 1318843 (5), 8820113 (5) (see all 99)
sterol	83.79	126	18704882 (3), 11058701 (3), 18852694 (3), 11997513 (2) (see all 81)
3-hydroxy-3-methylglutaryl-coa	76.06	42	15736419 (3), 2176080 (2), 9096609 (2), 9405278 (2) (see all 23)
25-hydroxycholesterol	75.89	26	14704295 (3), 17156886 (2), 2007178 (1), 7510705 (1) (see all 18)
cholesterol ester	75.74	14	1998641 (1), 2007178 (1), 1310398 (1), 10843165 (1) (see all 12)
lipid	75.31	206	16099208 (4), 17258176 (3), 14744149 (3), 7861934 (3) (see all 99)
lifibrol	62.26	8	11058701 (3), 10447220 (2), 15989622 (1)
27-hydroxycholesterol	58.29	2	7749852 (1), 8820113 (1)
squalene	55.27	13	9989262 (2), 18690757 (1), 16449644 (1), 1649182 (1) (see all 11)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (LDLR)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (LDLR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000527

Sigma-Aldrich siRNA and siRNA Panels for LDLR

Sigma-Aldrich shRNA Panels and shRNA for LDLR

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000527

REFSEQ mRNAs for LDLR gene:

NM_000527.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000527

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000527
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000527
                                 untagged cDNA clone in CMV expression vector: NM_000527

Additional cDNA sequence:

AB209409.1 AK129680.1 AK295612.1 AK296312.1 AK299038.1 AK300313.1 AY114155.1 BC014514.1

BT007361.1 BX648281.1 S40543.1 S70123.1

24/25 DOTS entries (see all 25 ):

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

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

DT.100038656 DT.121501940 DT.121502014 DT.91773653 DT.91991166 DT.97774195 DT.100841945 DT.40115062

6 AceView cDNA sequences:

AY114155 S70123 BT007361 BC014514 BX648281 NM_000527

highest scoring ESTs for LDLR:

AY114155 BC014514 BT007361 BX648281 S70123 AA045893 AA070701 AA074375 AA079706 AA099892

Unigene Clusters for LDLR:

Low density lipoprotein receptor

Hs.213289 , Hs.713967 [show with all ESTs]

Unigene Representative Sequences: AA069104, BX648281

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for LDLR

1 Ensembl transcript including schematic representation:

ENST00000252444

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

LDLR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for LDLR

¹ / ² / ³

10 probe-sets matching LDLR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32855_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	L00352	0.20	1.00	0.72	1
31552_at²^{, 3}	U95-A	1	1.00	1.00	-0.54	0.07	M28219	0.60	1.00	0.82	1
217173_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	S70123	0.80	1.00	0.91	1
202067_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI861942	0.60	1.00	0.82	1
217103_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M28219	0.60	1.00	0.82	1
202068_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000527	0.60	1.00	0.82	1
217173_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202067_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217103_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202068_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks LDLR for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: ATCGAGCCAC

SOURCE GeneReport for Unigene clusters: Hs.213289 Hs.713967
Expression variation in blood from EXPOLDB for LDLR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for LDLR gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	LDLR¹	--	low density lipoprotein receptor	98.68(n) 98.95(a)	455722 XM_001167447.1 XP_001167447.1
cow (Bos taurus)	LDLR¹	--	low density lipoprotein receptor	83.45(n) 83.29(a)	281276 XM_868927.2 XP_874020.1
rat (Rattus norvegicus)	Ldlr¹	--	low density lipoprotein receptor	78.48(n) 77.23(a)	300438 NM_175762.2 NP_786938.1
mouse (Mus musculus)	Ldlr^{1, 5}	9 (5.00 cM)⁵	low density lipoprotein receptor^{1, 5}	79.83(n)¹ 78.97(a)¹	16835¹ NM_010700.2¹ NP_034830.2¹ AF425607⁵ AI323629⁵ (see all 26)
zebrafish (Danio rerio)	ldlr¹	--	low density lipoprotein receptor	63.3(n) 61.71(a)	387529 NM_001030283.1 NP_001025454.1

About this table Species with no ortholog for LDLR

ENSEMBL Gene Tree for LDLR

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for LDLR gene

VLDLR² LRP2² LRP8²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/463 NCBI SNPs in LDLR are shown (see all 463 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 86)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1433099^1,2	A,C,F,H,O	11103658(-)	`TGACCG/AGTGAC`	1	--	ut3¹ ese³		22	EA NA MN NS EU WA	2580
	rs14158^1,2	A,C,F,H,O	11103044(+)	`TCGCCG/AGCCTT`	1	--	ut3¹ ese³		17	MN CSAM EA NS NA EU WA	2372
	rs2738466^1,2	A,C,F,H	11103765(+)	`TGCCCA/GTCCTC`	1	--	ut3¹		13	NS NA EU EA WA	1050
	rs2738465^1,2	A,C,F,H	11103496(+)	`CCCCCG/AAATCA`	1	--	ut3¹ ese³		14	NS NA EU EA WA	2008
	rs2738464^1,2	A,C,F,H	11103307(+)	`AAGGGC/GAGGGG`	1	--	ut3¹ trp³		18	NS NA EU EA WA	2420
	rs3826810^1,2	C,F,H	11103133(+)	`AACAGG/ACTTCG`	1	--	ut3¹ ese³		14	MN CSAM EA NS NA EU WA	1058
	rs10409044^1,2	C,F,H	11103974(+)	`GCCGTG/CATCGT`	1	--	ut3¹		5	EU EA WA NS	454
	rs11669576^1,2	C,F,H	11083300(+)	`CGAAGG/ACCTGC`	1	T/A	mis¹ ese³		8	EU EA WA	838
--	rs13344419^1,2	A,C,F	11104377(+)	`ctgggC/Tgacag`	1	--	ut3¹		1	NS	42
--	rs7258146^1,2	A,C,F	11104346(+)	`GAGATT/CGCGCC`	1	--	ut3¹		1	MN	184

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HapMap Linkage Disequilibrium images for LDLR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606945 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)

10/91 Novoseek disease relationships for LDLR gene (see all 91 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hypercholesterolemia familial	96.54	300	1677927 (2), 9889019 (2), 17625505 (2), 11138612 (2) (see all 99)
apolipoprotein b-100, familial defective	91.14	24	2313203 (1), 1453124 (1), 1347103 (1), 1600334 (1) (see all 23)
hypercholesterolemia, autosomal recessive	88.82	10	12464675 (1), 18417616 (1), 15327785 (1), 11326085 (1) (see all 6)
hypercholesterolemia	88.71	225	18726262 (3), 17784865 (3), 10064736 (3), 18566665 (3) (see all 99)
hyperlipoproteinemia, type iia	88.51	13	17964958 (2), 15767856 (2), 17566095 (1), 18245819 (1) (see all 9)
atherosclerosis	79.46	122	11369802 (5), 18198584 (4), 12208466 (3), 17234631 (3) (see all 85)
xanthoma	78.58	7	8551675 (1), 10208489 (1), 8650930 (1), 18566665 (1) (see all 5)
hyperlipoproteinemia type iii	74.68	4	9777289 (1), 19106071 (1), 11076954 (1), 15863833 (1)
hypocholesterolemia	72.63	3	7829645 (2), 8625123 (1)
hyperlipoproteinemia	69.30	5	10525128 (2), 15450205 (1), 16207455 (1)

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1 PharmGKB disease relationship for LDLR gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Hypercholesterolemia, Familial	GN	10882754

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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

Human Gene Mutation Database: LDLR
Genetic Association Database: LDLR
Human Genome Epidemiology Navigator: LDLR (318 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/1473 PubMed articles for LDLR gene (see all 1473 ):

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. (PubMed id 10882754)^{3, 4, 7} Thiart R.... Kotze M.J. (2000)
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. (PubMed id 9678702)^{1, 3, 4} Lee W.K....Dominiczak A.F. (1998)
[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.] (PubMed id 15477777)^{1, 3, 6} 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, 3, 6} 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, 3, 6} Wang C.H....Zheng F. (2004)
Investigation of an LDLR gene polymorphism (19p13.2) in susceptibility to migraine without aura. (PubMed id 12873747)^{1, 3, 6} 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, 3, 6} Kornienko I.V....Ivanov P.L. (2002)
Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci. (PubMed id 12189808)^{1, 3, 6} Morera B....Morales-Cordero A.I. (2001)
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. (PubMed id 9654205)^{1, 3, 4} Gorski B.... Lubinski J. (1998)
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). (PubMed id 8168830)^{1, 3, 4} Lelli N.... Calandra S. (1994)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 3949	HGNC: 6547	AceView: LDLR	Ensembl:ENSG00000130164	euGenes: HUgn3949
ECgene: LDLR	H-InvDB: LDLR

(According to HUGE)
About This Section

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

Name	Description
LDLR	http://www.ucl.ac.uk/fh/
GeneReviews	http://www.genetests.org/query?gene=LDLR
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LDLR

Licensable Technologies for LDLR
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for LDLR:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for LDLR-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for LDLR		Antibodies for LDLR
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for LDLR		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (LDLR)
	Antibodies (LDLR)
	Chimera RNAi (LDLR)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (LDL Receptor)
	Antibodies (LDL Receptor)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for LDLR

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for LDLR

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
LDLR Gene at Home site.
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LDLR Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for LDLR

Summaries
for LDLR

Genomic Location
for LDLR

Proteins
for LDLR

Protein Domains/
Families
for LDLR

Gene Function
for LDLR

Pathways & Interactions
for LDLR

Drugs & Compounds
for LDLR

Transcripts
for LDLR

Expression
for LDLR

Orthologs
for LDLR

Paralogs
for LDLR

SNPs/Variants
for LDLR

Disorders & Mutations
for LDLR

Medical News
for LDLR

Publications
for LDLR

Search for LDLR

Genome Databases showing LDLR

Other Databases showing LDLR

Specialized Databases showing LDLR

Licensable Technologies
for LDLR

Services
for LDLR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

LDLR Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor LDLR

Summariesfor LDLR

Genomic Locationfor LDLR

Proteinsfor LDLR

Protein Domains/Familiesfor LDLR

Gene Functionfor LDLR

Pathways & Interactionsfor LDLR

Drugs & Compoundsfor LDLR

Transcriptsfor LDLR

Expression for LDLR

Orthologsfor LDLR

Paralogsfor LDLR

SNPs/Variantsfor LDLR

Disorders & Mutationsfor LDLR

Medical Newsfor LDLR

Publicationsfor LDLR

Search for LDLR

Genome Databases showing LDLR

Other Databases showing LDLR

Specialized Databases showing LDLR

Licensable Technologiesfor LDLR

Servicesfor LDLR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for LDLR

Summaries
for LDLR

Genomic Location
for LDLR

Proteins
for LDLR

Protein Domains/
Families
for LDLR

Gene Function
for LDLR

Pathways & Interactions
for LDLR

Drugs & Compounds
for LDLR

Transcripts
for LDLR

Expression
for LDLR

Orthologs
for LDLR

Paralogs
for LDLR

SNPs/Variants
for LDLR

Disorders & Mutations
for LDLR

Medical News
for LDLR

Publications
for LDLR

Licensable Technologies
for LDLR

Services
for LDLR