MSL2
entrez
55167
canonical
uniprot
Q9HCI7
canonical
ensembl
ENSG00000174579
resolver
ensp
ENSP00000311827
resolver
ensp
ENSP00000387948
resolver
ensp
ENSP00000418655
resolver
genesymbol
MSL2
resolver
genesymbol_syn
KIAA1585
resolver
genesymbol_syn
MSL2L1
resolver
genesymbol_syn
RNF184
resolver
hgnc
HGNC:25544
resolver
uniprot
B4DYL4
resolver
uniprot
G5E9I1
resolver
uniprot
Q0D2P1
resolver
uniprot
Q8NDB4
resolver
uniprot
Q9NVS4
resolver
uniprot_entry
MSL2_HUMAN
resolver
uniprot_sec
B4DYL4
resolver
uniprot_sec
G5E9I1
resolver
uniprot_sec
Q0D2P1
resolver
uniprot_sec
Q8NDB4
resolver
uniprot_sec
Q9NVS4
resolver
amino_acid_sequence
MNPVNATALYISASRLVLNYDPGDPKAFTEINRLLPYFRQSLSCCVCGHLLQDPIAPTNSTCQHYVCKTCKGKKMMMKPSCSWCKDYEQFEENKQLSILVNCYKKLCEYITQTTLARDIIEAVDCSSDILALLNDGSLFCEETEKPSDSSFTLCLTHSPLPSTSEPTTDPQASLSPMSESTLSIAIGSSVINGLPTYNGLSIDRFGINIPSPEHSNTIDVCNTVDIKTEDLSDSLPPVCDTVATDLCSTGIDICSFSEDIKPGDSLLLSVEEVLRSLETVSNTEVCCPNLQPNLEATVSNGPFLQLSSQSLSHNVFMSTSPALHGLSCTAATPKIAKLNRKRSRSESDSEKVQPLPISTIIRGPTLGASAPVTVKRESKISLQPIATVPNGGTTPKISKTVLLSTKSMKKSHEHGSKKSHSKTKPGILKKDKAVKEKIPSHHFMPGSPTKTVYKKPQEKKGCKCGRATQNPSVLTCRGQRCPCYSNRKACLDCICRGCQNSYMANGEKKLEAFAVPEKALEQTRLTLGINVTSIAVRNASTSTSVINVTGSPVTTFLAASTHDDKSLDEAIDMRFDC
uniprot
proteins
disease_involvement
DISEASE: Karayol-Borroto-Haghshenas neurodevelopmental syndrome (KBHS) [MIM:620985]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, psychiatric manifestations including autism spectrum disorder and attention deficit, dysmorphic features, and motor issues such as coordination problems, feeding difficulties, and gait disturbance. {ECO:0000269|PubMed:38815585}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
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, PubMed:33837287). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). MSL2 plays a key role in gene dosage by ensuring biallelic expression of a subset of dosage-sensitive genes, including many haploinsufficient genes (By similarity). Acts by promoting promoter-enhancer contacts, thereby preventing DNA methylation of one allele and creating a methylation-free environment for methylation-sensitive transcription factors such as SP1, KANSL1 and KANSL3 (By similarity). Also acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at 'Lys-35' (H2BK34Ub), but not that of H2A (PubMed:21726816, PubMed:30930284). This activity is greatly enhanced by heterodimerization with MSL1 (PubMed:21726816, PubMed:30930284). H2B ubiquitination in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1 (PubMed:21726816). Also involved in the DNA damage response by mediating ubiquitination of TP53/p53 and TP53BP1 (PubMed:19033443, PubMed:23874665). {ECO:0000250|UniProtKB:Q69ZF8, ECO:0000250|UniProtKB:Q9D1P2, ECO:0000269|PubMed:16543150, ECO:0000269|PubMed:19033443, ECO:0000269|PubMed:21726816, ECO:0000269|PubMed:23874665, ECO:0000269|PubMed:30930284, ECO:0000269|PubMed:33837287}.
uniprot
proteins
mass_dalton
62541
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="H->Y: Great reduction in H2B ubiquitination. No effect on MSL1-binding."; /evidence="ECO:0000269|PubMed:21726816
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:19033443, ECO:0000269|PubMed:21726816, ECO:0000269|PubMed:23874665, ECO:0000269|PubMed:30930284}.
uniprot
proteins
protein_family
MSL2 family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16227571
uniprot
proteins
pubmed
16543150
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19033443
uniprot
proteins
pubmed
21726816
uniprot
proteins
pubmed
23084835
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23874665
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30930284
uniprot
proteins
pubmed
33837287
uniprot
proteins
pubmed
38815585
uniprot
proteins
sequence_length
577
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16227571}. Chromosome {ECO:0000269|PubMed:21726816}. Note=Associates with both promoters and enhancers of target genes, maintaining promoter-enhancer contacts. {ECO:0000250|UniProtKB:Q69ZF8}.
uniprot
proteins