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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:21634872-21661215 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 7.87 cM
  • Mapping Data
    32 experiments
Strain
Comparison
more
  • SNPs within 2kb
    877 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    8
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96765
 protein coding gene Chr9:21634779-21661215 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034460
 protein coding gene Chr9:18967039-19000985 (+)
A/J MGP_AJ_G0034438
 protein coding gene Chr9:18626174-18652072 (+)
AKR/J MGP_AKRJ_G0034365
 protein coding gene Chr9:18987413-19014777 (+)
BALB/cJ MGP_BALBcJ_G0034429
 protein coding gene Chr9:18506006-18533075 (+)
C3H/HeJ MGP_C3HHeJ_G0034141
 protein coding gene Chr9:19284102-19311053 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034950
 protein coding gene Chr9:19723916-19751667 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031880
 protein coding gene Chr9:17733779-17759866 (+)
CAST/EiJ MGP_CASTEiJ_G0033464
 protein coding gene Chr9:19112962-19142512 (+)
CBA/J MGP_CBAJ_G0034114
 protein coding gene Chr9:20492359-20522938 (+)
DBA/2J MGP_DBA2J_G0034273
 protein coding gene Chr9:18592852-18619283 (+)
FVB/NJ MGP_FVBNJ_G0034216
 protein coding gene Chr9:18127354-18154856 (+)
LP/J MGP_LPJ_G0034358
 protein coding gene Chr9:19113471-19139469 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034259
 protein coding gene Chr9:22072378-22098539 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034970
 protein coding gene Chr9:18933168-18962597 (+)
PWK/PhJ MGP_PWKPhJ_G0033169
 protein coding gene Chr9:18590154-18618469 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033004
 protein coding gene Chr9:18989748-19017314 (+)
WSB/EiJ MGP_WSBEiJ_G0033579
 protein coding gene Chr9:18665244-18694353 (+)



Homology
more
  • Human Ortholog
    LDLR, low density lipoprotein receptor
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LDLR, low density lipoprotein receptor
  • Synonyms
    FH, FHC, FHCL1, LDLCQ2
  • Links
    NCBI Gene ID: 3949
    neXtProt AC: NX_P01130
    UniProt: P01130

  • Chr Location
    19p13.2; chr19:11089418-11133820 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ldlr mouse models; 5 with human LDLR associations

Human Disease Mouse Models
      
IDs
 View 7 models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
IDs
IDs
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
less
  • Phenotype Summary
    77 phenotypes from 4 alleles in 12 genetic backgrounds
    181 phenotypes from multigenic genotypes
    9 images
    1457 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    114
  • GO References
    36
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    919
  • Tissues
    67
  • cDNA Data
    123
  • Literature Summary
    31
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16835 NCBI Gene Model | MGI Sequence Detail 26344 C57BL/6J ±  kb
    transcript NM_010700 RefSeq | MGI Sequence Detail 4549 ZRU/MplStud  
    polypeptide P35951 UniProt | EBI | MGI Sequence Detail 862 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000009744 low-density lipoprotein receptor
      (term hierarchy)
    • InterPro Domains
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR000033 LDLR class B repeat
      IPR036055 LDL receptor-like superfamily
      IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
      IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
      IPR050685 Low-density lipoprotein receptor
      IPR049883 NOTCH1 EGF-like calcium-binding domain
      IPR011042 Six-bladed beta-propeller, TolB-like
    • GlyGen
      P35951 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 144
      Genomic 6
      cDNA 129
      Primer pair 6
      Other 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11774, MGI:2683059
    References
    more
    • Summaries
      All 1672
      Developmental Gene Expression 31
      Diseases 12
      Gene Ontology 36
      Phenotypes 1457
    • Earliest
      J:30079 Brown MS, et al., A receptor-mediated pathway for cholesterol homeostasis. Science. 1986 Apr 4;232(4746):34-47
    • Latest
      J:359073 Busnelli M, et al., Effect of diet and genotype on the lipidome of mice with altered lipoprotein metabolism. iScience. 2024 Oct 18;27(10):111051
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory