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L3mbtl2 Gene Detail
Summary
  • Symbol
    L3mbtl2
  • Name
    L3MBTL2 polycomb repressive complex 1 subunit
  • Synonyms
    4732493N06Rik, m4mbt
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443584
    NCBI Gene: 214669
  • Gene Overview
    MyGene.info: L3MBTL2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:81663889-81688315 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24427 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 38.19 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    L3MBTL2, L3MBTL2, polycomb repressive complex 1 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    L3MBTL2, L3MBTL2, polycomb repressive complex 1 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    H-l(3)mbt-l, L3MBT
  • Links
    NCBI Gene ID: 83746
    neXtProt AC: NX_Q969R5
    UniProt: Q969R5

  • Chr Location
    22q13.2; chr22:41205192-41231271 (+)  GRCh38.p7

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    33 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.
Mice homozygous for a knock-out allele exhibit failure of the inner cell mass to form a normal primitive ectoderm capable of gastrulation leading to abnormal embryo development, embryonic growth arrest, and lethality during organogenesis.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000038071 VEGA Gene Model | MGI Sequence Detail 24427 C57BL/6J ±  kb
    transcript OTTMUST00000098040 VEGA | MGI Sequence Detail 2578 Not Applicable  
    polypeptide OTTMUSP00000055023 VEGA | MGI Sequence Detail 739 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      62 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • InterPro Domains
      IPR038603 FCS-type zinc finger superfamily
      IPR038038 Lethal(3)malignant brain tumour-like protein 2
      IPR004092 Mbt repeat
      IPR012313 Zinc finger, FCS-type
    Molecular
    Reagents
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    • All nucleic 13
      cDNA 12
      Other 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 5
      Phenotypes 33
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:261316 Perez-Garcia V, et al., Placentation defects are highly prevalent in embryonic lethal mouse mutants. Nature. 2018 Mar 22;555(7697):463-468

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory