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

    Gene ID: 214669, updated on 21-Apr-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; regulation of histone modification; 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, Apr 2022]
    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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    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
    • 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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    Related articles in PubMed

    1. L3MBTL2 regulates chromatin remodeling during spermatogenesis. Meng C, et al. Cell Death Differ, 2019 Nov. PMID 30760872, Free PMC Article
    2. 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. Huang H, et al. Kidney Int, 2018 Apr. PMID 29276099
    3. Kdm2b Regulates Somatic Reprogramming through Variant PRC1 Complex-Dependent Function. Zhou Z, et al. Cell Rep, 2017 Nov 21. PMID 29166607
    4. Proliferation-linked expression of the novel murine gene m4mbt encoding a nuclear zinc finger protein with four mbt domains. Markus J, et al. Gene, 2003 Nov 13. PMID 14597177
    5. Characterization of non-canonical Polycomb Repressive Complex 1 subunits during early mouse embryogenesis. Eid A, et al. Epigenetics, 2016 Jun 2. PMID 27081692, Free PMC Article

    See all (37) citations in PubMed

    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)
    • Targeted (5)  1 citation
    • Endonuclease-mediated (2) 

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    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 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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