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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:21723576-21749919 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 7.87 cM
  • Mapping Data
    32 experiments
Strain
Comparison
more
  • SNPs within 2kb
    105 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96765
protein coding gene Chr9:21723483-21749919 (.)
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
    9
  • Human Ortholog
    LDLR, low density lipoprotein receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FH, FHC, LDLCQ2
  • Links
    NCBI Gene ID: 3949
    neXtProt AC: NX_P01130
    UniProt: P01130

  • Chr Location
    19p13.2; chr19:11089362-11133830 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 55469
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
IDs
View 7 models
      
IDs
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
    168 phenotypes from multigenic genotypes
    9 images
    987 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 C57BL/6  
    polypeptide P35951 UniProt | EBI | MGI Sequence Detail 862 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • 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 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
      IPR011042 Six-bladed beta-propeller, TolB-like
    Molecular
    Reagents
    less
    • All nucleic 139
      Genomic 6
      cDNA 129
      Primer pair 3
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11774, MGI:2683059
    References
    more
    • Summaries
      All 1172
      Developmental Gene Expression 25
      Diseases 12
      Gene Ontology 29
      Phenotypes 987
    • Earliest
      J:30079 Brown MS, et al., A receptor-mediated pathway for cholesterol homeostasis. Science. 1986 Apr 4;232(4746):34-47
    • Latest
      J:266140 Peng Y, B cell responses to apoptotic cells in MFG-E8-/- mice. PLoS One. 2018;13(10):e0205172

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory