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

Summary

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Msl2 is a novel component of the vertebrate DNA damage response.
Title: Msl2 is a novel component of the vertebrate DNA damage response.
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.
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.

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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 EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiethnic meta-analysis of genome-wide association studies in &gt;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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 2.3.2.27

NP_060603.2

EC 2.3.2.27

XP_005247628.1

EC 2.3.2.27

XP_011511251.1

EC 2.3.2.27

XP_054203043.1

EC 2.3.2.27

XP_054203044.1

EC 2.3.2.27

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)

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
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

136148917..136196335 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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