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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:81663889-81688315 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 38.19 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    62 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443584
protein coding gene Chr15:81663889-81688315 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022116
protein coding gene Chr15:82114638-82138735 (+)
A/J MGP_AJ_G0022077
protein coding gene Chr15:79216777-79244570 (+)
AKR/J MGP_AKRJ_G0022052
protein coding gene Chr15:81413456-81438648 (+)
BALB/cJ MGP_BALBcJ_G0022083
protein coding gene Chr15:79260245-79289018 (+)
C3H/HeJ MGP_C3HHeJ_G0021854
protein coding gene Chr15:81430076-81454409 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022526
protein coding gene Chr15:85338290-85366207 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020055
protein coding gene Chr15:75682266-75702277 (+)
CAST/EiJ MGP_CASTEiJ_G0021374
protein coding gene Chr15:82195943-82223817 (+)
CBA/J MGP_CBAJ_G0021818
protein coding gene Chr15:87988728-88022573 (+)
DBA/2J MGP_DBA2J_G0021948
protein coding gene Chr15:78698312-78723433 (+)
FVB/NJ MGP_FVBNJ_G0021925
protein coding gene Chr15:77737768-77762294 (+)
LP/J MGP_LPJ_G0022016
protein coding gene Chr15:82264012-82292306 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021946
protein coding gene Chr15:92943627-92970587 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022540
protein coding gene Chr15:81501460-81528824 (+)
PWK/PhJ MGP_PWKPhJ_G0021116
protein coding gene Chr15:78734434-78759873 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020953
protein coding gene Chr15:81296716-81320131 (+)
WSB/EiJ MGP_WSBEiJ_G0021426
protein coding gene Chr15:81921292-81948628 (+)



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
less
  • 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
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.
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
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 214669 NCBI Gene Model | MGI Sequence Detail 24427 C57BL/6J ±  kb
    transcript NR_110362 RefSeq | MGI Sequence Detail 3810 C57BL/6  
    polypeptide P59178 UniProt | EBI | MGI Sequence Detail 703 Not Applicable  
    For the selected sequence
    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
    less
    • All nucleic 14
      cDNA 13
      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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory