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Ldlr
Gene Detail
Symbol

Name
ID
Ldlr
low density lipoprotein receptor
MGI:96765
Feature Type
protein coding gene
Genetic Map
Chromosome 9
7.87 cM
Detailed Genetic Map ± 1 cM


Mapping data(32)
Sequence Map
Chr9:21723576-21749916 bp, + strand
From Ensembl annotation of GRCm38

  26341 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55469  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: LDLR
Gene Tree: Ldlr

Human
homologs
LDLR, low density lipoprotein receptor
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 3949
neXtProt AC: NX_P01130

Human Synonyms: FH, FHC, LDLCQ2

Human Chr (Location): 19p13.2; chr19:11089362-11133830 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human LDLR

Mutations,
alleles, and
phenotypes
All mutations/alleles(36) : Chemically induced (ENU)(2) Gene trapped(24) Targeted(9) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis.
 
Human Diseases Modeled in Mice Using Ldlr (2)    Mutations Annotated to Human Diseases (2)    Phenotype Images(9)
Interactions
Ldlr interacts with 262 markers (Mir7-1, Mir15a, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (55 annotations)
Process cholesterol homeostasis, cholesterol import, ...
Component apical part of cell, basolateral plasma membrane, ...
Function calcium ion binding, glycoprotein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (173)    Tissues (52)    Images (31)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 120
Northern blot 38
RT-PCR 15
cDNA source data(122)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ldlr ; ZFIN ldlra    NEW 
Molecular
reagents
All nucleic(138) Genomic(6) cDNA(128) Primer pair(3) Other(1)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000032193 (Evidence)
Entrez Gene 16835 (Evidence)
UniGene 3213
DFCI TC1572220, TC1596072, TC1596367, TC1621863, TC1650174, TC1666618, TC1738660
DoTS DT.101162065, DT.101209477, DT.101228881, DT.101235629, DT.101280743, DT.101400484, DT.531817, DT.55195832
NIA Mouse Gene Index U010151
Consensus CDS Project CCDS22910.1
International Mouse Phenotyping Consortium Status Ldlr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032193 Ensembl Gene Model | MGI Sequence Detail 26341 C57BL/6J ±  kb
transcript ENSMUST00000034713 Ensembl | MGI Sequence Detail 4531 Not Applicable 
polypeptide ENSMUSP00000034713 Ensembl | MGI Sequence Detail 862 Not Applicable 

For the selected sequences
All sequences(59) RefSeq(6) UniProt(7)
Polymorphisms
RFLP(8) : SNPs within 2kb(105 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR001881 EGF-like calcium-binding domain
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000742 EGF-like domain
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR000033 LDLR class B repeat
InterPro IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
InterPro IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
Protein Ontology PR:000009744 low-density lipoprotein receptor
References
(Earliest) J:30079 Brown MS, et al., A receptor-mediated pathway for cholesterol homeostasis. Science. 1986 Apr 4;232(4746):34-47
(Latest) J:223016 Xu Y, et al., A metabolic stress-inducible miR-34a-HNF4alpha pathway regulates lipid and lipoprotein metabolism. Nat Commun. 2015;6:7466
All references(932)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-11774, MGI:2683059

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory