Gene Gene information from NCBI Gene database.
Entrez ID 55167
Gene name MSL complex subunit 2
Gene symbol MSL2
Synonyms (NCBI Gene)
KBHSMSL-2MSL2L1RNF184
Chromosome 3
Chromosome location 3q22.3
miRNA miRNA information provided by mirtarbase database.
619
miRTarBase ID miRNA Experiments Reference
MIRT049962 hsa-miR-30a-5p CLASH 23622248
MIRT047821 hsa-miR-30d-5p CLASH 23622248
MIRT701784 hsa-miR-4323 HITS-CLIP 23313552
MIRT701783 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT701782 hsa-miR-6893-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 21726816, 30930284
GO:0005515 Function Protein binding IPI 16227571, 28514442, 33961781
GO:0005634 Component Nucleus IDA 16227571
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614802 25544 ENSG00000174579
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCI7
Protein name E3 ubiquitin-protein ligase MSL2 (EC 2.3.2.27) (Male-specific lethal 2-like 1) (MSL2-like 1) (Male-specific lethal-2 homolog) (MSL-2) (Male-specific lethal-2 homolog 1) (RING finger protein 184)
Protein function Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16543150, PubM
PDB 4B7Y , 4B86
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16685 zf-RING_10 42 111 zinc RING finger of MSL2 Domain
PF16682 MSL2-CXC 455 509 CXC domain of E3 ubiquitin-protein ligase MSL2 Domain
Sequence
MNPVNATALYISASRLVLNYDPGDPKAFTEINRLLPYFRQSLSCCVCGHLLQDPIAPTNS
TCQHYVCKTCKGKKMMMKPSCSWCKDYEQFEENKQLSILVNCYKKLCEYIT
QTTLARDII
EAVDCSSDILALLNDGSLFCEETEKPSDSSFTLCLTHSPLPSTSEPTTDPQASLSPMSES
TLSIAIGSSVINGLPTYNGLSIDRFGINIPSPEHSNTIDVCNTVDIKTEDLSDSLPPVCD
TVATDLCSTGIDICSFSEDIKPGDSLLLSVEEVLRSLETVSNTEVCCPNLQPNLEATVSN
GPFLQLSSQSLSHNVFMSTSPALHGLSCTAATPKIAKLNRKRSRSESDSEKVQPLPISTI
IRGPTLGASAPVTVKRESKISLQPIATVPNGGTTPKISKTVLLSTKSMKKSHEHGSKKSH
SKTKPGILKKDKAVKEKIPSHHFMPGSPTKTVYKKPQEKKGCKCGRATQNPSVLTCRGQR
CPCYSNRKACLDCICRGCQNSYMANGEKK
LEAFAVPEKALEQTRLTLGINVTSIAVRNAS
TSTSVINVTGSPVTTFLAASTHDDKSLDEAIDMRFDC
Sequence length 577
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism Likely pathogenic; Pathogenic rs1576352885 RCV000791284
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Karayol-Borroto-Haghshenas neurodevelopmental syndrome Likely pathogenic; Pathogenic rs1576352885 RCV005410917
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic neurodevelopmental disorder Pathogenic rs2529663010 RCV003331563
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 31332282, 37280359 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease GWASCAT_DG 29212778
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Liver carcinoma Liver carcinoma BEFREE 31612010
★☆☆☆☆
Found in Text Mining only
Myasthenia Gravis Myasthenia Gravis BEFREE 30362606
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31612010
★☆☆☆☆
Found in Text Mining only