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

Gene ID: 55167, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 16.6), lymph node (RPKM 11.8) and 25 other tissues See more
Orthologs
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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
  • 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)

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

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