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    MSL2 MSL complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 55167, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MSL2provided by HGNC
    Official Full Name
    MSL complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:25544
    See related
    Ensembl:ENSG00000174579 MIM:614802; AllianceGenome:HGNC:25544
    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
    KBHS; MSL-2; MSL2L1; RNF184
    Summary
    Enables histone H2B ubiquitin ligase activity. Involved in DNA damage response and protein monoubiquitination. Part of MSL complex and nucleus. Is active in chromatin. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 16.6), lymph node (RPKM 11.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MSL2 in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (136148917..136196335, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (138894723..138942140, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (135867759..135915177, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:135684144-135684962 Neighboring gene NADH:ubiquinone oxidoreductase subunit S6 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:135703753-135704390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:135704391-135705026 Neighboring gene protein phosphatase 2 regulatory subunit B''alpha Neighboring gene Sharpr-MPRA regulatory region 9179 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:135788758-135789957 Neighboring gene DONSON pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:135876195-135876694 Neighboring gene CRIPTO pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:135906825-135907326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:135907961-135908462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20580 Neighboring gene hESC enhancers GRCh37_chr3:135914134-135914880 and GRCh37_chr3:135914881-135915627 Neighboring gene Sharpr-MPRA regulatory region 3094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:135942902-135943448 Neighboring gene ribosomal protein L31 pseudogene 23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:135968821-135969687 Neighboring gene propionyl-CoA carboxylase subunit beta Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:136015730-136016305

    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 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. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. Lu X, et al. Eur J Hum Genet, 2024 Jul. PMID 38702431, Free PMC Article
    2. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Karayol R, et al. Am J Hum Genet, 2024 Jul 11. PMID 38815585, Free PMC Article
    3. Analysis of histone ubiquitylation by MSL1/MSL2 proteins in vitro. Krajewski WA, et al. Arch Biochem Biophys, 2019 May 15. PMID 30930284
    4. Msl2 is a novel component of the vertebrate DNA damage response. Lai Z, et al. PLoS One, 2013. PMID 23874665, Free PMC Article
    5. Hepatitis B virus X protein-elevated MSL2 modulates hepatitis B virus covalently closed circular DNA by inducing degradation of APOBEC3B to enhance hepatocarcinogenesis. Gao Y, et al. Hepatology, 2017 Nov. PMID 28608964

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
      Title: MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
    2. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.
      Title: Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.
    3. MALAT-1 directly induced MSL2 expression in Myasthenia gravis (MG) by acting as a competing endogenous RNA for miR-338-3p, suggesting that it may serve as a therapeutic target for MG treatment.
      Title: The long noncoding RNA MALAT-1 functions as a competing endogenous RNA to regulate MSL2 expression by sponging miR-338-3p in myasthenia gravis.
    4. HBx-elevated MSL2 modulates hepatitis B virus (HBV) cccDNA in hepatoma cells to promote hepatocarcinogenesis, forming a positive feedback loop of HBx/MSL2/cccDNA/HBV.
      Title: Hepatitis B virus X protein-elevated MSL2 modulates hepatitis B virus covalently closed circular DNA by inducing degradation of APOBEC3B to enhance hepatocarcinogenesis.
    5. Msl2 is a novel component of the vertebrate DNA damage response.
      Title: Msl2 is a novel component of the vertebrate DNA damage response.
    6. MSL2, together with MSL1, has robust histone ubiquitylation activity that mainly targets nucleosomal H2B on lysine 34.
      Title: The RING finger protein MSL2 in the MOF complex is an E3 ubiquitin ligase for H2B K34 and is involved in crosstalk with H3 K4 and K79 methylation.
    7. A multisubunit human histone acetylase complex that contains homologs of the Drosophila MSL proteins MOF, MSL1 (hampin A), MSL2, and MSL3 was described. This complex is responsible for histone H4 lysine-16 acetylation of all cellular chromosomes.
      Title: A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.
    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
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    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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    Homology

    Clone Names

    • FLJ10546, FLJ54913, KIAA1585

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone H2B ubiquitin ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables promoter-enhancer loop anchoring activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epigenetic regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of MSL complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MSL complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase MSL2
    Names
    E3 ubiquitin-protein transferase MSL2
    MSL2-like 1
    male-specific lethal 2 homolog
    male-specific lethal 2-like 1
    male-specific lethal-2 homolog 1
    ring finger protein 184
    NP_001138889.1
    NP_060603.2
    XP_005247628.1
    XP_011511251.1
    XP_054203043.1
    XP_054203044.1

    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_001145417.2 → NP_001138889.1  E3 ubiquitin-protein ligase MSL2 isoform 2

      See identical proteins and their annotated locations for NP_001138889.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' end exon, therefore, has a different 5' UTR compared to transcript variant 1. This results in translation initiation from an in-frame downstream AUG and an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB046805, AC092991, AW237818, AW271295, DC409643
      Consensus CDS
      CCDS46922.1
      UniProtKB/TrEMBL
      A0A8V8TR57
      Related
      ENSP00000387948.2, ENST00000434835.2
      Conserved Domains (3) summary
      TIGR03551
      Location:170 → 212
      F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
      pfam16682
      Location:381 → 435
      MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
      cl17238
      Location:1 → 37
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    2. NM_018133.4 → NP_060603.2  E3 ubiquitin-protein ligase MSL2 isoform 1

      See identical proteins and their annotated locations for NP_060603.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB046805, AC092991, AK091956, AW237818, AW271295, DA674784
      Consensus CDS
      CCDS33861.1
      UniProtKB/Swiss-Prot
      B4DYL4, G5E9I1, Q0D2P1, Q8NDB4, Q9HCI7, Q9NVS4
      UniProtKB/TrEMBL
      A8K942
      Related
      ENSP00000311827.2, ENST00000309993.3
      Conserved Domains (2) summary
      pfam16682
      Location:455 → 509
      MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
      pfam16685
      Location:42 → 111
      zf-RING_10; zinc RING finger of MSL2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      136148917..136196335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512949.3 → XP_011511251.1  E3 ubiquitin-protein ligase MSL2 isoform X1

      See identical proteins and their annotated locations for XP_011511251.1

      UniProtKB/TrEMBL
      A0A8V8TR57
      Related
      ENSP00000418655.2, ENST00000473093.2
      Conserved Domains (3) summary
      TIGR03551
      Location:170 → 212
      F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
      pfam16682
      Location:381 → 435
      MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
      cl17238
      Location:1 → 37
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    2. XM_005247571.4 → XP_005247628.1  E3 ubiquitin-protein ligase MSL2 isoform X1

      See identical proteins and their annotated locations for XP_005247628.1

      UniProtKB/TrEMBL
      A0A8V8TR57
      Conserved Domains (3) summary
      TIGR03551
      Location:170 → 212
      F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
      pfam16682
      Location:381 → 435
      MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
      cl17238
      Location:1 → 37
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      138894723..138942140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347069.1 → XP_054203044.1  E3 ubiquitin-protein ligase MSL2 isoform X1

    2. XM_054347068.1 → XP_054203043.1  E3 ubiquitin-protein ligase MSL2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCI7.2 GenPept UniProtKB/Swiss-Prot:Q9HCI7

    Gene LinkOut

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

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