About   Help   FAQ
Lbr Gene Detail
Summary
  • Symbol
    Lbr
  • Name
    lamin B receptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:2138281
    NCBI Gene: 98386
  • Gene Overview
    MyGene.info: LBR
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:181815335-181843046 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27712 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 84.89 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    LBR, lamin B receptor
  • Vertebrate Orthologs
    9
  • Human Ortholog
    LBR, lamin B receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DHCR14B, LMN2R, PHA, TDRD18
  • Links
    NCBI Gene ID: 3930
    neXtProt AC: NX_Q14739
    UniProt: Q14739

  • Chr Location
    1q42.12; chr1:225401502-225428855 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Lbr mouse models; 1 with human LBR associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    88 phenotypes from 6 alleles in 8 genetic backgrounds
    15 phenotypes from multigenic genotypes
    37 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.
Mutations in this gene result in abnormal skin and hair and impair growth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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 OTTMUSG00000050712 VEGA Gene Model | MGI Sequence Detail 27712 C57BL/6J ±  kb
    transcript OTTMUST00000128536 VEGA | MGI Sequence Detail 3510 Not Applicable  
    polypeptide OTTMUSP00000069130 VEGA | MGI Sequence Detail 626 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      79 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 175
      cDNA 175

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11144, MGI:96390
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 8
      Phenotypes 37
    • Earliest
      J:13065 Carter TC, et al., Ichthyosis, a new recessive mutant in the house mouse. J Hered. 1950;41:297-300
    • Latest
      J:255082 Kurogi S, et al., Development of an efficient screening system to identify novel bone metabolism-related genes using the exchangeable gene trap mutagenesis mouse models. Sci Rep. 2017 Jan 20;7(None):40692

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory