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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BAZ2B
bromodomain adjacent to zinc finger domain 2B
Chromosome 2 Β· 2q24.2
NCBI Gene: 29994Ensembl: ENSG00000123636.21HGNC: HGNC:963UniProt: Q9UIF8
64PubMed Papers
20Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusprotein bindingchromatinregulation of transcription by RNA polymerase IINeurodevelopmental disorderIntellectual disabilityhypothyroidismPeyronie disease
✦AI Summary

BAZ2B encodes a chr2 remodeling protein that serves as a regulatory subunit of ATP-dependent ISWI chr2 remodeling complexes, facilitating nucleosome spacing and chr2 accessibility during DNA-templated processes 1. The protein functions as an epigenetic regulator with diverse biological roles. In aging, BAZ2B acts as a negative regulator of healthy aging by repressing mitochondrial function genes, with its expression increasing with age in human frontal cortex and correlating with Alzheimer's disease progression 2. In liver metabolism, BAZ2B upregulation in hepatocytes contributes to metabolic dysfunction-associated steatohepatitis (MASH) by directly binding promoter regions and reducing chr2 accessibility of PPARΞ±-regulated lipid metabolism genes 3. BAZ2B haploinsufficiency causes neurodevelopmental disorders characterized by developmental delay, intellectual disability, and autism spectrum disorder through an incompletely penetrant autosomal dominant mechanism 45. In cancer, BAZ2B generally functions as a tumor suppressor, with downregulation associated with poor prognosis and enhanced glycolytic metabolism in breast cancer 6. Additionally, BAZ2B variants represent novel COVID-19 hospitalization risk loci in admixed American populations 7. The protein's bromodomain can be targeted by selective inhibitors like GSK2801, providing tools for therapeutic intervention 8.

Sources cited
1
BAZ2B is a regulatory subunit of ATP-dependent ISWI chromatin remodeling complexes that facilitate nucleosome spacing and chromatin accessibility
PMID: 28801535
2
BAZ2B acts as a negative regulator of healthy aging by repressing mitochondrial function genes and its expression increases with age in human brain
PMID: 32103178
3
BAZ2B contributes to MASH fibrosis by binding promoter regions and reducing chromatin accessibility of PPARΞ±-regulated genes
PMID: 40389730
4
BAZ2B haploinsufficiency causes neurodevelopmental disorders including developmental delay, intellectual disability, and autism spectrum disorder
PMID: 31999386
5
BAZ2B deficiency causes an incompletely penetrant autosomal dominant neurodevelopmental syndrome
PMID: 37872713
6
BAZ2B functions as a tumor suppressor with downregulation associated with poor prognosis and enhanced glycolysis in breast cancer
PMID: 41501318
7
BAZ2B variants represent novel COVID-19 hospitalization risk loci in admixed American populations
PMID: 39361370
8
BAZ2B bromodomain can be targeted by selective inhibitor GSK2801
PMID: 25799074
Disease Associationsβ“˜20
Neurodevelopmental disorderOpen Targets
0.58Moderate
Intellectual disabilityOpen Targets
0.37Weak
hypothyroidismOpen Targets
0.34Weak
Peyronie diseaseOpen Targets
0.31Weak
bilirubin metabolism diseaseOpen Targets
0.29Weak
JaundiceOpen Targets
0.29Weak
clonal hematopoiesisOpen Targets
0.29Weak
smoking initiationOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.27Weak
cervical carcinomaOpen Targets
0.27Weak
diabetes mellitusOpen Targets
0.26Weak
joint diseaseOpen Targets
0.26Weak
subarachnoid hemorrhageOpen Targets
0.24Weak
migraine with auraOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.22Weak
autoimmune thyroid diseaseOpen Targets
0.20Weak
non-Hodgkins lymphomaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
oropharynx cancerOpen Targets
0.19Weak
arthritisOpen Targets
0.18Weak
Pathogenic Variants18
NM_013450.4(BAZ2B):c.2T>C (p.Met1Thr)Pathogenic
BAZ2B-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_013450.4(BAZ2B):c.1184dup (p.Glu396fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 396
NM_013450.4(BAZ2B):c.2255+1G>TLikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_013450.4(BAZ2B):c.4598C>G (p.Ser1533Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1533
NM_013450.4(BAZ2B):c.5560G>T (p.Glu1854Ter)Likely pathogenic
BAZ2B-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 1854
NM_013450.4(BAZ2B):c.145+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_013450.4(BAZ2B):c.5797-1G>CLikely pathogenic
BAZ2B-associated neurodevelopmental disorder
β˜…β˜†β˜†β˜†2024
NM_013450.4(BAZ2B):c.3868C>T (p.Arg1290Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1290
NM_013450.4(BAZ2B):c.3075+3_3075+6delLikely pathogenic
BAZ2B-related disorder
β˜…β˜†β˜†β˜†2023
NM_013450.4(BAZ2B):c.2152C>T (p.Leu718Phe)Likely pathogenic
BAZ2B-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 718
NM_013450.4(BAZ2B):c.502G>A (p.Gly168Ser)Likely pathogenic
BAZ2B-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 168
NM_013450.4(BAZ2B):c.1435del (p.His479fs)Pathogenic
BAZ2B-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 479
NM_013450.4(BAZ2B):c.1360del (p.Val454fs)Likely pathogenic
BAZ2B-related Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 454
NM_013450.4(BAZ2B):c.3075+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2020
NM_013450.4(BAZ2B):c.2813del (p.Ile938fs)Likely pathogenic
BAZ2B-related Neurodevelopmental disorder
β˜…β˜†β˜†β˜†β†’ Residue 938
NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter)Pathogenic
Neurodevelopmental disorder
β˜†β˜†β˜†β˜†2017β†’ Residue 210
NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr)Pathogenic
Neurodevelopmental disorder
β˜†β˜†β˜†β˜†2017β†’ Residue 709
NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val)Pathogenic
Neurodevelopmental disorder
β˜†β˜†β˜†β˜†2017β†’ Residue 1679
View on ClinVar β†—
Related Genes
MSL1Shared pathway100%HDGFL1Shared pathway100%HIPK4Shared pathway100%HMGB4Shared pathway100%NAA40Shared pathway100%NSD1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
53%
Brain
35%
Heart
32%
Lung
31%
Liver
23%
Gene Interaction Network
Click a node to explore
BAZ2BMSL1HDGFL1HIPK4HMGB4NAA40NSD1
PROTEIN STRUCTURE
Preparing viewer…
PDB5PG1 Β· 1.49 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.39Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.32 [0.26–0.39]
RankingsWhere BAZ2B stands among ~20K protein-coding genes
  • #7,240of 20,598
    Most Researched64
  • #2,288of 5,498
    Most Pathogenic Variants18
  • #1,876of 17,882
    Most Constrained (LOEUF)0.39 Β· top quartile
Genes detectedBAZ2B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targeting the chromatin remodeler BAZ2B mitigates hepatic senescence and MASH fibrosis.
PMID: 40389730
Nat Aging Β· 2025
1.00
2
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
PMID: 31999386
Hum Mutat Β· 2020
0.90
3
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
PMID: 37872713
Am J Med Genet A Β· 2024
0.80
4
Two conserved epigenetic regulators prevent healthy ageing.
PMID: 32103178
Nature Β· 2020
0.70
5
Pan-cancer and multi-omics analyses reveal the diagnostic and prognostic value of BAZ2B in cancer.
PMID: 41501318
Sci Rep Β· 2026
0.60