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    L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 83746, updated on 18-May-2023

    Summary

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    Official Symbol
    L3MBTL2provided by HGNC
    Official Full Name
    L3MBTL histone methyl-lysine binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:18594
    See related
    Ensembl:ENSG00000100395 MIM:611865; AllianceGenome:HGNC:18594
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    L3MBT; H-l(3)mbt-l
    Summary
    Enables methylated histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within several processes, including ectoderm development; regulation of histone modification; and stem cell proliferation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.9), testis (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See L3MBTL2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41205312..41231271)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (41680250..41706208)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41601316..41627275)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene EP300 antisense RNA 1 Neighboring gene leucine rich repeat containing 37 member A14, pseudogene Neighboring gene uncharacterized LOC646927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41593165-41593664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41602160-41602660 Neighboring gene L3MBTL2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41613805-41614502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41614503-41615199 Neighboring gene chondroadherin like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41632734-41633322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41633323-41633911

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Solution structure of the FCS zinc finger domain of the human polycomb group protein L(3)mbt-like 2. Lechtenberg BC, et al. Protein Sci, 2009 Mar. PMID 19241375, Free PMC Article
    2. Molecular characterization of h-l(3)mbt-like: a new member of the human mbt family. Wismar J. FEBS Lett, 2001 Oct 19. PMID 11682070
    3. Methylation-state-specific recognition of histones by the MBT repeat protein L3MBTL2. Guo Y, et al. Nucleic Acids Res, 2009 Apr. PMID 19233876, Free PMC Article
    4. L3MBTL2 orchestrates ubiquitin signalling by dictating the sequential recruitment of RNF8 and RNF168 after DNA damage. Nowsheen S, et al. Nat Cell Biol, 2018 Apr. PMID 29581593, Free PMC Article
    5. Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. Lo MT, et al. Nat Genet, 2017 Jan. PMID 27918536, Free PMC Article

    See all (73) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. L3MBTL2 orchestrates ubiquitin signalling by dictating the sequential recruitment of RNF8 and RNF168 after DNA damage, regulating the DNA damage response pathway.
      Title: L3MBTL2 orchestrates ubiquitin signalling by dictating the sequential recruitment of RNF8 and RNF168 after DNA damage.
    2. L3MBTL2 polymorphism is associated with neuroticism.
      Title: Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.
    3. Our findings highlight a PcG/L3MBTL2 collaboration that attains repressive chromatin without entailing histone lysine methylation marks.
      Title: L3MBTL2 protein acts in concert with PcG protein-mediated monoubiquitination of H2A to establish a repressive chromatin structure.
    4. determination of the solution structure of the FCS zinc finger of L3MBTL2; structure consists of a beta-hairpin followed by an alpha-helix; structure is consistent with the proposal that FCS zinc fingers bind to regulatory RNAs
      Title: Solution structure of the FCS zinc finger domain of the human polycomb group protein L(3)mbt-like 2.
    5. High-resolution crystallographic analysis of the four MBT repeats of L3MBTL2 reveals its unique asymmetric rhomboid architecture, as well as binding mechanism, which preclude the interaction of the first three MBT repeats with methylated peptides.
      Title: Methylation-state-specific recognition of histones by the MBT repeat protein L3MBTL2.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    enables histone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    enables methylated histone 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
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    lethal(3)malignant brain tumor-like protein 2
    Names
    H-l(3)mbt-like protein 2
    L(3)mbt-like protein 2
    L3MBTL2, polycomb repressive complex 1 subunit
    l(3)mbt-like 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_031488.5 → NP_113676.2  lethal(3)malignant brain tumor-like protein 2

      See identical proteins and their annotated locations for NP_113676.2

      Status: VALIDATED

      Source sequence(s)
      AJ305226, AJ305227, AK097052, BU184979
      Consensus CDS
      CCDS14011.1
      UniProtKB/Swiss-Prot
      Q969R5, Q9UGS4
      UniProtKB/TrEMBL
      A0A0S2Z5X6
      Related
      ENSP00000216237.5, ENST00000216237.10
      Conserved Domains (1) summary
      smart00561
      Location:511 → 604
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41205312..41231271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028976.2 → XP_016884465.1  lethal(3)malignant brain tumor-like protein 2 isoform X2

    2. XM_047441536.1 → XP_047297492.1  lethal(3)malignant brain tumor-like protein 2 isoform X1

    3. XM_047441537.1 → XP_047297493.1  lethal(3)malignant brain tumor-like protein 2 isoform X4

    4. XM_017028977.2 → XP_016884466.1  lethal(3)malignant brain tumor-like protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      41680250..41706208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326000.1 → XP_054181975.1  lethal(3)malignant brain tumor-like protein 2 isoform X2

    2. XM_054325999.1 → XP_054181974.1  lethal(3)malignant brain tumor-like protein 2 isoform X1

    3. XM_054326002.1 → XP_054181977.1  lethal(3)malignant brain tumor-like protein 2 isoform X4

    4. XM_054326001.1 → XP_054181976.1  lethal(3)malignant brain tumor-like protein 2 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001003689.1: Suppressed sequence

      Description
      NM_001003689.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969R5.1 GenPept UniProtKB/Swiss-Prot:Q969R5

    Gene LinkOut

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

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