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

Gene ID: 55167, updated on 4-Oct-2020

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
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
MSL-2; MSL2L1; RNF184
Expression
Ubiquitous expression in bone marrow (RPKM 16.6), lymph node (RPKM 11.8) and 25 other tissues See more
Orthologs

Genomic context

See MSL2 in Genome Data Viewer
Location:
3q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (136148917..136197300, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (135867760..135915522, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 regulatory subunit B''alpha Neighboring gene uncharacterized LOC107986135 Neighboring gene DNA replication fork stabilization factor DONSON pseudogene Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 3094 Neighboring gene ribosomal protein L31 pseudogene 23

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
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
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.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ10546, FLJ54913, KIAA1585

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
histone H4-K16 acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
MSL complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MSL complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001145417.2NP_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/Swiss-Prot
    Q9HCI7
    Related
    ENSP00000387948.2, ENST00000434835.2
    Conserved Domains (3) summary
    TIGR03551
    Location:170212
    F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
    pfam16682
    Location:381435
    MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
    cl17238
    Location:137
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  2. NM_018133.4NP_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
    Q9HCI7
    Related
    ENSP00000311827.2, ENST00000309993.3
    Conserved Domains (4) summary
    TIGR03551
    Location:244286
    F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
    cd16522
    Location:4484
    RING-HC_MSL2; RING-HC finger (C3HC4-type) [structural motif]
    pfam16682
    Location:455509
    MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
    pfam16685
    Location:42111
    zf-RING_10; zinc RING finger of MSL2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    136148917..136197300 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713684.3XP_006713747.1  E3 ubiquitin-protein ligase MSL2 isoform X1

    See identical proteins and their annotated locations for XP_006713747.1

    UniProtKB/Swiss-Prot
    Q9HCI7
    Conserved Domains (3) summary
    TIGR03551
    Location:170212
    F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
    pfam16682
    Location:381435
    MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
    cl17238
    Location:137
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  2. XM_005247571.3XP_005247628.1  E3 ubiquitin-protein ligase MSL2 isoform X1

    See identical proteins and their annotated locations for XP_005247628.1

    UniProtKB/Swiss-Prot
    Q9HCI7
    Conserved Domains (3) summary
    TIGR03551
    Location:170212
    F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
    pfam16682
    Location:381435
    MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
    cl17238
    Location:137
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  3. XM_011512949.2XP_011511251.1  E3 ubiquitin-protein ligase MSL2 isoform X1

    See identical proteins and their annotated locations for XP_011511251.1

    UniProtKB/Swiss-Prot
    Q9HCI7
    Conserved Domains (3) summary
    TIGR03551
    Location:170212
    F420_cofH; 7,8-didemethyl-8-hydroxy-5-deazariboflavin synthase, CofH subunit
    pfam16682
    Location:381435
    MSL2-CXC; CXC domain of E3 ubiquitin-protein ligase MSL2
    cl17238
    Location:137
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
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