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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 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Ldlr

Human
homologs
Human Homolog LDLR, low density lipoprotein receptor
NCBI Gene ID 3949
neXtProt AC  NX_P01130
Human Synonyms  FH, FHC, LDLCQ2
Human Chr (Location)  19p13.2; chr19:11089362-11133830 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human LDLR
Mutations,
alleles, and
phenotypes
All mutations/alleles(35) : Chemically induced (ENU)(2) Gene trapped(24) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Ldlr (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(9)
Interactions
Ldlr interacts with 263 markers (Mir7-1, Mir15a, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (50 annotations)
Process cholesterol homeostasis, cholesterol import, ...
Component caveola, cell surface, ...
Function calcium ion binding, glycoprotein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (173)    Tissues (51)    Images (31)
Theiler Stages: 1, 2, 3, 5, 12, 23, 28
Assay TypeResults
RNA in situ 120
Northern blot 38
RT-PCR 15
cDNA source data(122)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(138) Genomic(6) cDNA(128) Primer pair(3) Other(1)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000032193 (Evidence)
Entrez Gene16835 (Evidence)
UniGene3213
DFCITC1572220, TC1596072, TC1596367, TC1621863, TC1650174, TC1666618, TC1738660
DoTSDT.101162065, DT.101209477, DT.101228881, DT.101235629, DT.101280743, DT.101400484, DT.531817, DT.55195832
NIA Mouse Gene IndexU010151
Consensus CDS ProjectCCDS22910.1
International Mouse Knockout Project StatusLdlr
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(60) RefSeq(8) UniProt(7)
Polymorphisms RFLP(8) : SNPs within 2kb(105 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
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:211613 Johnson LA, et al., Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner. Neurobiol Dis. 2014 Apr;64:150-62
All references(872)
Disease annotation references (5)
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
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory