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Lrp4 Gene Detail
Summary
  • Symbol
    Lrp4
  • Name
    low density lipoprotein receptor-related protein 4
  • Synonyms
    6430526J12Rik, mdig, Megf7
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442252
    NCBI Gene: 228357
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:91287856-91344124 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 50.63 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1309 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442252
 protein coding gene Chr2:91287794-91344246 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026150
 protein coding gene Chr2:92799400-92858358 (+)
A/J MGP_AJ_G0026111
 protein coding gene Chr2:89071233-89127523 (+)
AKR/J MGP_AKRJ_G0026092
 protein coding gene Chr2:91536912-91597559 (+)
BALB/cJ MGP_BALBcJ_G0026120
 protein coding gene Chr2:89257587-89314670 (+)
C3H/HeJ MGP_C3HHeJ_G0025871
 protein coding gene Chr2:91819766-91880758 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026571
 protein coding gene Chr2:96048869-96108568 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023962
 protein coding gene Chr2:85575016-85631853 (+)
CAST/EiJ MGP_CASTEiJ_G0025336
 protein coding gene Chr2:92367565-92425585 (+)
CBA/J MGP_CBAJ_G0025849
 protein coding gene Chr2:99345694-99414152 (+)
DBA/2J MGP_DBA2J_G0025985
 protein coding gene Chr2:88672166-88731430 (+)
FVB/NJ MGP_FVBNJ_G0025948
 protein coding gene Chr2:87779291-87835468 (+)
LP/J MGP_LPJ_G0026089
 protein coding gene Chr2:93002604-93059578 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025974
 protein coding gene Chr2:102365093-102422675 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026625
 protein coding gene Chr2:91610482-91669439 (+)
PWK/PhJ MGP_PWKPhJ_G0025071
 protein coding gene Chr2:88405814-88466559 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024872
 protein coding gene Chr2:91181632-91240832 (+)
WSB/EiJ MGP_WSBEiJ_G0025403
 protein coding gene Chr2:92216584-92274712 (+)



Homology
more
  • Human Ortholog
    LRP4, LDL receptor related protein 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LRP4, LDL receptor related protein 4
  • Synonyms
    CLSS, CMS17, LRP10, LRP-4, MEGF7, SOST2
  • Links
    NCBI Gene ID: 4038
    neXtProt AC: NX_O75096
    UniProt: O75096

  • Chr Location
    11p11.2; chr11:46856717-46918642 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Lrp4 mouse models; 3 with human LRP4 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    75 phenotypes from 10 alleles in 16 genetic backgrounds
    6 phenotypes from multigenic genotypes
    7 images
    55 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 mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    89
  • GO References
    23
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
    1057
  • Tissues
    125
  • cDNA Data
    16
  • Literature Summary
    37
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027253 Ensembl Gene Model | MGI Sequence Detail 56269 C57BL/6J ±  kb
    transcript ENSMUST00000028689 Ensembl | MGI Sequence Detail 7926 Not Applicable  
    polypeptide ENSMUSP00000028689 Ensembl | MGI Sequence Detail 1905 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000009924 low-density lipoprotein receptor-related protein 4
      (term hierarchy)
    • InterPro Domains
      IPR026823 Complement Clr-like EGF domain
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR000742 EGF-like domain
      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
      IPR051221 Low-density lipoprotein receptor-related
      IPR011042 Six-bladed beta-propeller, TolB-like
    • GlyGen
      Q8VI56 8 sites, 6 N-linked glycans (7 sites)
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 16
      Primer pair 10
      Other 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2660807
    References
    more
    • Summaries
      All 112
      Developmental Gene Expression 37
      Diseases 2
      Gene Ontology 23
      Phenotypes 55
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345130 Eguchi T, et al., Calcium-binding protein 7 expressed in muscle negatively regulates age-related degeneration of neuromuscular junctions in mice. iScience. 2024 Feb 16;27(2):108997
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory