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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
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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)

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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_031488.5NP_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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