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Ldlr Gene Detail
Summary
  • Symbol
    Ldlr
  • Name
    low density lipoprotein receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:96765
    NCBI Gene: 16835
  • Gene Overview
    MyGene.info: LDLR
Location & Maps
more
  • Sequence Map
    Chr9:21723576-21749916 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26341 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    LDLR, low density lipoprotein receptor
  • Vertebrate Orthologs
    9
  • Human Ortholog
    LDLR, low density lipoprotein receptor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FH, FHC, LDLCQ2
  • Links
    NCBI Gene ID: 3949
    neXtProt AC: NX_P01130

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

  • HomoloGene
    Vertebrate Homology Class 55469
    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
Human Diseases
more
  • Diseases
    2 with Ldlr mouse models; 1 with human LDLR associations

Human Disease Mouse Models
       Hypercholesterolemia, Familial   OMIM: 143890 View 7 models
       Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1; NAFLD1   OMIM: 613282 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    75 phenotypes from 5 alleles in 12 genetic backgrounds
    150 phenotypes from multigenic genotypes
    9 images
    842 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    37
  • Chemically induced (ENU)
    2
  • Gene trapped
    24
  • Targeted
    10
  • Transgenic
    1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    105 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000009744 low-density lipoprotein receptor
  • InterPro Domains
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR000742 EGF-like domain
    IPR000152 EGF-type aspartate/asparagine hydroxylation site
    IPR009030 Growth factor receptor cysteine-rich domain
    IPR000033 LDLR class B repeat
    IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
    IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
    IPR011042 Six-bladed beta-propeller, TolB-like
Molecular
Reagents
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  • All nucleic 138
    Genomic 6
    cDNA 128
    Primer pair 3
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-11774, MGI:2683059
References
more
  • Summaries
    All 984
    Developmental Gene Expression 23
    Diseases 12
    Gene Ontology 21
    Phenotypes 842
  • Earliest
    J:30079 Brown MS, et al., A receptor-mediated pathway for cholesterol homeostasis. Science. 1986 Apr 4;232(4746):34-47
  • Latest
    J:229542 Sims-Robinson C, et al., The role of endoplasmic reticulum stress in hippocampal insulin resistance. Exp Neurol. 2016 Mar;277:261-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory