MSL3B

Summary

MSL3B (MSL complex subunit 3B, HGNC:17837) is a protein-coding gene on chromosome 2q37.1, encoding MSL complex subunit 3B (P0C860). Probable 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.

Predicted to be involved in chromatin organization and regulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be part of MSL complex and NuA4 histone acetyltransferase complex.

Source: NCBI Gene 151507 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 4 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17837
Approved symbol	MSL3B
Name	MSL complex subunit 3B
Location	2q37.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000224287
Entrez	151507

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 86.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9810 / max 162.8417, expressed in 1422 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34603	5.8263	1414
34604	0.1547	53

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.46	gold quality
testis	UBERON:0000473	82.62	gold quality
left testis	UBERON:0004533	82.07	gold quality
right testis	UBERON:0004534	80.90	gold quality
endometrium	UBERON:0001295	71.90	gold quality
islet of Langerhans	UBERON:0000006	69.74	gold quality
stromal cell of endometrium	CL:0002255	69.70	gold quality
placenta	UBERON:0001987	68.90	gold quality
rectum	UBERON:0001052	68.55	gold quality
duodenum	UBERON:0002114	66.85	gold quality
right lobe of liver	UBERON:0001114	63.21	gold quality
lower esophagus mucosa	UBERON:0035834	63.20	gold quality
granulocyte	CL:0000094	62.97	gold quality
smooth muscle tissue	UBERON:0001135	62.74	gold quality
superior frontal gyrus	UBERON:0002661	62.04	gold quality
mucosa of transverse colon	UBERON:0004991	62.01	gold quality
esophagus mucosa	UBERON:0002469	61.35	gold quality
tonsil	UBERON:0002372	59.96	gold quality
esophagus	UBERON:0001043	59.63	gold quality
fundus of stomach	UBERON:0001160	59.49	gold quality
pancreas	UBERON:0001264	58.96	gold quality
prostate gland	UBERON:0002367	58.88	gold quality
ganglionic eminence	UBERON:0004023	58.52	gold quality
liver	UBERON:0002107	58.30	gold quality
lower esophagus	UBERON:0013473	58.13	gold quality
muscle layer of sigmoid colon	UBERON:0035805	58.04	gold quality
lower esophagus muscularis layer	UBERON:0035833	58.03	gold quality
nucleus accumbens	UBERON:0001882	57.96	gold quality
prefrontal cortex	UBERON:0000451	57.91	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.53

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

MSL complex subunit 3B — P0C860 (reviewed: P0C860)

Alternative names: Male-specific lethal-3 homolog 2, Male-specific lethal-3 homolog pseudogene 1, Male-specific lethal-3 protein-like 2

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Probable 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.

Subcellular location. Nucleus.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008676	MRG	Family
IPR026541	MRG_dom	Domain
IPR038217	MRG_C_sf	Homologous_superfamily

Pfam: PF05712

UniProt features (7 total): compositionally biased region 3, region of interest 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C860-F1	68.69	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (showing top): GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, GOCC_H4_H2A_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_MSL_COMPLEX, GSE14699_NAIVE_VS_ACT_CD8_TCELL_DN, chr2q37, GOCC_INTRACELLULAR_PROTEIN_CONTAINING_COMPLEX, WP_2Q37_COPY_NUMBER_VARIATION_SYNDROME, GOCC_ACETYLTRANSFERASE_COMPLEX, GOBP_CHROMATIN_ORGANIZATION, GOCC_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_CHROMATIN, GSE5542_UNTREATED_VS_IFNA_AND_IFNG_TREATED_EPITHELIAL_CELLS_6H_UP, GSE4590_PRE_BCELL_VS_VPREB_POS_LARGE_PRE_BCELL_UP

GO Biological Process (2): chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (0):

GO Cellular Component (3): nucleus (GO:0005634), NuA4 histone acetyltransferase complex (GO:0035267), MSL complex (GO:0072487)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular component organization	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
intracellular membrane-bounded organelle	1
H4/H2A histone acetyltransferase complex	1
H4 histone acetyltransferase complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

8 interactions, top by confidence:

A	B	Type	Score
MSL1	MSL3B	psi-mi:“MI:0914”(association)	0.530
Kat8	HCFC1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
KAT8	MSL3B	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A6ND36, A6QQ70, A7E2V4, G3X992, O18805, O35144, O35613, O70240, O70405, O88566, O94983, P0C860, Q1LZH7, Q3TES0, Q3UHH1, Q3UHI4, Q5DU25, Q5JU85, Q5JV73, Q5R8S0, Q5R9S0, Q5SWY7, Q5TJE1, Q66K74, Q6AYG1, Q6P1H6, Q6P2E9, Q6PL24, Q6ZQF7, Q76M68, Q7TNY7, Q7TSG2, Q80Y50, Q8BX02, Q8K1S6, Q8K3I4, Q8N163, Q8N5H7, Q8VDP4, Q8VIB2

Diamond homologs: A5A6J5, A7DTF0, G3X992, O13953, P0C860, P0CO86, P0CO87, P60762, Q12432, Q15014, Q4P827, Q4R578, Q4V3E2, Q4WPW2, Q54RM0, Q59K07, Q5BBV4, Q5NVP9, Q5R6Y9, Q5R905, Q6AYG1, Q6AYU1, Q6BT38, Q6C9M9, Q6CND0, Q6QI89, Q75AH9, Q8N5Y2, Q94C32, Q9R0Q4, Q9UBU8, Q9WVG9, Q9Y0I1, P50536, Q9NBL2, A2CG63, F8VPQ2, P29374, Q4LE39, Q6FN68

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000884685 (2:233865664 T>C,G), RS1000948544 (2:233865093 C>G), RS1001344518 (2:233867172 T>C), RS1001374161 (2:233867399 T>G), RS1001379618 (2:233865410 A>G), RS1002381399 (2:233866200 G>A,T), RS1002399913 (2:233868552 A>T), RS1003192067 (2:233865749 A>C), RS1004905015 (2:233870091 G>A), RS1006125100 (2:233867461 G>A,T), RS1006444500 (2:233867602 A>G), RS1006917446 (2:233866606 T>C), RS1007277962 (2:233867913 C>A,T), RS1008586171 (2:233865029 C>A,T), RS1008937146 (2:233869175 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003478_1	Hair greying	7.000000e-06
GCST003986_3	Migraine	7.000000e-19

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
arsenite	affects binding, increases reaction	1
fipronil	affects cotreatment, increases expression	1
DEET	affects cotreatment, increases expression	1
Phthalic Acids	decreases methylation	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.