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

    Gene ID: 83746, updated on 8-Jul-2021

    Summary

    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
    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
    Expression
    Ubiquitous expression in lymph node (RPKM 7.9), testis (RPKM 7.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See L3MBTL2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41205192..41231271)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41601316..41627275)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene E1A binding protein p300 Neighboring gene RNA, U6 small nuclear 375, pseudogene Neighboring gene EP300 antisense RNA 1 Neighboring gene leucine rich repeat containing 37 member A14, pseudogene Neighboring gene uncharacterized LOC646927 Neighboring gene L3MBTL2 antisense RNA 1 Neighboring gene chondroadherin like Neighboring gene Ran GTPase activating protein 1 Neighboring gene microRNA 6889 Neighboring gene Sharpr-MPRA regulatory region 14092

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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 transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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_031488.5NP_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
      UniProtKB/TrEMBL
      A0A0S2Z5X6
      Related
      ENSP00000216237.5, ENST00000216237.10
      Conserved Domains (1) summary
      smart00561
      Location:511604
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      41205192..41231271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530420.2XP_011528722.1  lethal(3)malignant brain tumor-like protein 2 isoform X1

      Conserved Domains (2) summary
      smart00561
      Location:493586
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam02820
      Location:415486
      MBT; mbt repeat
    2. XM_017028976.1XP_016884465.1  lethal(3)malignant brain tumor-like protein 2 isoform X2

    3. XM_011530421.3XP_011528723.1  lethal(3)malignant brain tumor-like protein 2 isoform X3

      Conserved Domains (2) summary
      smart00561
      Location:420513
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam02820
      Location:342413
      MBT; mbt repeat
    4. XM_017028979.1XP_016884468.1  lethal(3)malignant brain tumor-like protein 2 isoform X5

      Conserved Domains (2) summary
      smart00561
      Location:301394
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:373
      MBT; mbt repeat
    5. XM_017028980.2XP_016884469.1  lethal(3)malignant brain tumor-like protein 2 isoform X6

    6. XM_017028978.1XP_016884467.1  lethal(3)malignant brain tumor-like protein 2 isoform X5

      Conserved Domains (2) summary
      smart00561
      Location:301394
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:373
      MBT; mbt repeat
    7. XM_024452279.1XP_024308047.1  lethal(3)malignant brain tumor-like protein 2 isoform X5

      Conserved Domains (2) summary
      smart00561
      Location:301394
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      cl17705
      Location:373
      MBT; mbt repeat
    8. XM_017028977.1XP_016884466.1  lethal(3)malignant brain tumor-like protein 2 isoform X4

    RNA

    1. XR_002958719.1 RNA Sequence

    2. XR_001755320.2 RNA Sequence

    3. XR_001755321.2 RNA Sequence

    4. XR_001755322.2 RNA Sequence

      Related
      ENST00000452106.5
    5. XR_002958718.1 RNA Sequence

    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.
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