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L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit [ Mus musculus (house mouse) ]

Gene ID: 214669, updated on 2-Nov-2024

Summary

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Official Symbol
L3mbtl2provided by MGI
Official Full Name
L3MBTL2 polycomb repressive complex 1 subunitprovided by MGI
Primary source
MGI:MGI:2443584
See related
Ensembl:ENSMUSG00000022394 AllianceGenome:MGI:2443584
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
M4mbt; 4732493N06Rik
Summary
Enables promoter-specific chromatin binding activity. Acts upstream of or within several processes, including ectoderm development; stem cell differentiation; and stem cell proliferation. Located in nucleus. Is expressed in several structures, including blastocyst; early embryo; genitourinary system; gut; and immune system. Orthologous to human L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis adult (RPKM 9.6), thymus adult (RPKM 8.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See L3mbtl2 in Genome Data Viewer
Location:
15 E1; 15 38.19 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (81548090..81572516)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (81663889..81688315)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1110025M09 gene Neighboring gene STARR-positive B cell enhancer ABC_E1914 Neighboring gene E1A binding protein p300 Neighboring gene predicted gene, 22067 Neighboring gene STARR-positive B cell enhancer ABC_E2446 Neighboring gene TM2 domain containing 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_39263 Neighboring gene chondroadherin-like Neighboring gene RAN GTPase activating protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E1915 Neighboring gene zinc finger CCCH type containing 7B Neighboring gene STARR-seq mESC enhancer starr_39269

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. L3MBTL2 regulates chromatin remodeling during spermatogenesis.
    Title: L3MBTL2 regulates chromatin remodeling during spermatogenesis.
  2. L3MBTL2 plays a protective role in kidney injury, in part by inhibiting the DNA damage-p53-apoptosis pathway.
    Title: Lethal (3) malignant brain tumor-like 2 (L3MBTL2) protein protects against kidney injury by inhibiting the DNA damage-p53-apoptosis pathway in renal tubular cells.
  3. that PRC1 complex participates in the establishment of pluripotency and identify BMP4 signaling as a modulator of PRC1.1 function
    Title: Kdm2b Regulates Somatic Reprogramming through Variant PRC1 Complex-Dependent Function.
  4. Disruption of L3mbtl2 results in embryonic lethality with failure of gastrulation.
    Title: The polycomb group protein L3mbtl2 assembles an atypical PRC1-family complex that is essential in pluripotent stem cells and early development.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (5)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC31247

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone binding ISO
Inferred from Sequence Orthology
more info
  
enables methylated histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylated histone binding ISO
Inferred from Sequence Orthology
more info
  
enables methylated histone binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables promoter-specific chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within chromatin organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within ectoderm development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within stem cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
lethal(3)malignant brain tumor-like protein 2
Names
l(3)mbt-like 2
l(3)mbt-like protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001289711.1 → NP_001276640.1  lethal(3)malignant brain tumor-like protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC102262, AK146632
    Consensus CDS
    CCDS79394.1
    UniProtKB/TrEMBL
    G3UY70, Q3U164
    Related
    ENSMUSP00000133967.2, ENSMUST00000174229.8
    Conserved Domains (2) summary
    smart00561
    Location:511 → 604
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam02820
    Location:433 → 504
    MBT; mbt repeat

  2. NM_001289712.1 → NP_001276641.1  lethal(3)malignant brain tumor-like protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001276641.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an additional segment in the 3' UTR and uses an alternate splice site in the 3' coding region compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC102262
    Consensus CDS
    CCDS79395.1
    UniProtKB/TrEMBL
    Q3U164, Q80XB1
    Related
    ENSMUSP00000134333.2, ENSMUST00000172748.8
    Conserved Domains (2) summary
    smart00561
    Location:511 → 604
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam02820
    Location:433 → 504
    MBT; mbt repeat

  3. NM_145993.5 → NP_666105.2  lethal(3)malignant brain tumor-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_666105.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional segment in the 3' UTR and coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC102262, AK036510, BY130665
    Consensus CDS
    CCDS27669.1
    UniProtKB/Swiss-Prot
    P59178, Q8BHD5
    UniProtKB/TrEMBL
    Q3U164
    Related
    ENSMUSP00000023029.9, ENSMUST00000023029.15
    Conserved Domains (2) summary
    smart00561
    Location:511 → 604
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam02820
    Location:433 → 504
    MBT; mbt repeat

RNA

  1. NR_110362.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and contains an additional segment in the 3' terminal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC102262
    Related
    ENSMUST00000172568.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    81548090..81572516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59178.2 GenPept UniProtKB/Swiss-Prot:P59178

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