BAZ2B

Summary

BAZ2B (bromodomain adjacent to zinc finger domain 2B, HGNC:963) is a protein-coding gene on chromosome 2q24.2, encoding Bromodomain adjacent to zinc finger domain protein 2B (Q9UIF8). Regulatory subunit of the ATP-dependent BRF-1 and BRF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair.

This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD).

Source: NCBI Gene 29994 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 556 total — 16 pathogenic, 12 likely-pathogenic
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_013450

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:963
Approved symbol	BAZ2B
Name	bromodomain adjacent to zinc finger domain 2B
Location	2q24.2
Locus type	gene with protein product
Status	Approved
Aliases	WALp4
Ensembl gene	ENSG00000123636
Ensembl biotype	protein_coding
OMIM	605683
Entrez	29994

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 13 protein_coding, 6 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000294905, ENST00000392782, ENST00000392783, ENST00000426648, ENST00000437839, ENST00000441143, ENST00000467184, ENST00000472953, ENST00000474437, ENST00000482501, ENST00000482503, ENST00000483316, ENST00000485917, ENST00000541068, ENST00000548440, ENST00000551504, ENST00000552327, ENST00000718451, ENST00000911534, ENST00000911535, ENST00000911536, ENST00000911537, ENST00000911538

RefSeq mRNA: 4 — MANE Select: NM_013450 NM_001289975, NM_001329857, NM_001329858, NM_013450

CCDS: CCDS2209, CCDS74594

Canonical transcript exons

ENST00000392783 — 37 exons

Exon	Start	End
ENSE00000840700	159349007	159349280
ENSE00000840703	159374691	159374753
ENSE00000840706	159385155	159385369
ENSE00000840710	159397345	159397389
ENSE00000840711	159398829	159398894
ENSE00000840720	159432757	159433363
ENSE00001148115	159318979	159320418
ENSE00001148127	159373045	159373189
ENSE00001173542	159336942	159337077
ENSE00001173549	159347486	159347646
ENSE00001173555	159348678	159348833
ENSE00001173562	159349708	159350357
ENSE00001173595	159382559	159382802
ENSE00001173601	159383606	159383680
ENSE00001386868	159555823	159555865
ENSE00001893988	159616242	159616548
ENSE00003469838	159324811	159324954
ENSE00003471923	159438303	159438695
ENSE00003473721	159337567	159337772
ENSE00003488786	159430863	159431156
ENSE00003497359	159395769	159395834
ENSE00003498556	159428311	159428419
ENSE00003520224	159404849	159404910
ENSE00003526780	159400599	159400664
ENSE00003552088	159389345	159389485
ENSE00003571583	159405022	159405114
ENSE00003583272	159427941	159428042
ENSE00003586470	159429200	159429260
ENSE00003613270	159448242	159448409
ENSE00003659788	159412335	159412545
ENSE00003665942	159386353	159386607
ENSE00003669756	159453613	159453801
ENSE00003671341	159332540	159332686
ENSE00003677732	159478575	159478721
ENSE00003678814	159439009	159439212
ENSE00003745700	159446782	159446975
ENSE00004035124	159325653	159325918

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 98.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4073 / max 548.5365, expressed in 1779 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31446	11.6493	1562
31444	4.9592	1474
31441	2.3708	701
31451	1.9972	993
31443	1.0299	477
31445	0.6918	327
31442	0.4086	187
31447	0.1600	74
31440	0.1008	49
31450	0.0228	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	98.12	gold quality
calcaneal tendon	UBERON:0003701	97.94	gold quality
adrenal tissue	UBERON:0018303	97.70	gold quality
corpus callosum	UBERON:0002336	97.05	gold quality
ventricular zone	UBERON:0003053	94.70	gold quality
colonic epithelium	UBERON:0000397	94.57	gold quality
buccal mucosa cell	CL:0002336	94.51	gold quality
ganglionic eminence	UBERON:0004023	93.98	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	93.81	gold quality
germinal epithelium of ovary	UBERON:0001304	93.30	gold quality
monocyte	CL:0000576	93.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.89	gold quality
left ovary	UBERON:0002119	92.84	gold quality
mononuclear cell	CL:0000842	92.71	gold quality
ovary	UBERON:0000992	92.61	gold quality
corpus epididymis	UBERON:0004359	92.52	gold quality
caput epididymis	UBERON:0004358	92.47	gold quality
bone marrow cell	CL:0002092	92.30	gold quality
palpebral conjunctiva	UBERON:0001812	92.28	gold quality
inferior olivary complex	UBERON:0002127	92.27	gold quality
leukocyte	CL:0000738	92.22	gold quality
visceral pleura	UBERON:0002401	92.08	gold quality
right ovary	UBERON:0002118	91.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.77	gold quality
subthalamic nucleus	UBERON:0001906	91.70	gold quality
superficial temporal artery	UBERON:0001614	91.66	gold quality
pleura	UBERON:0000977	91.65	gold quality
seminal vesicle	UBERON:0000998	91.62	gold quality
gall bladder	UBERON:0002110	91.56	gold quality
eye	UBERON:0000970	91.52	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6108	no	362.61
E-GEOD-99795	no	67.11
E-MTAB-6678	no	3.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

239 targeting BAZ2B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 8)

• Data suggest that binding of helical tail of histone 3 (H3) with PHD (‘plant homeodomain’) fingers of BAZ2A or BAZ2B (bromodomain adjacent to zinc finger domain 2A or 2B) requires molecular recognition of secondary structure motifs within H3 tail and could represent an additional layer of regulation in epigenetic processes. (PMID:28341809)
• Phosphorylation, acetylation, or poly(ADP-ribosyl)ation of the linker residues may therefore act as a cellular mechanism to transiently tune BAZ2B histone-binding affinity. (PMID:28864776)
• Synergistic inhibition of BDs encoded in BAZ2A/B, BRD9, and BET proteins induces apoptosis of triple-negative breast cancer (TNBC) by a combinatorial suppression of ribosomal DNA transcription and ETS-regulated genes. (PMID:31000582)
• Study identified BAZ2B as a major interactant of small hepatitis delta virus (HDV) antigen (S-HDAg) in human hepatocytes. BAZ2B bromodomain, which generally binds the K14acXXR motif in histone H3-tail, recognizes the same K72acXXR motif in S-HDAg. S-HDAg mimics histone H3 acetylation to recruit BAZ2B-associated remodeling factor complexes and RNA Pol II on the HDV ribonucleoproteins to sustain HDV replication. (PMID:31964889)
• BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. (PMID:31999386)
• The Master Regulator Protein BAZ2B Can Reprogram Human Hematopoietic Lineage-Committed Progenitors into a Multipotent State. (PMID:33296649)
• Circulating tumor DNA, and clinical features to guide rechallenge with BRAF inhibitors in BRAF-V600E mutated metastatic colorectal cancer. (PMID:37866812)
• Biochemical and cellular insights into the Baz2B protein, a non-catalytic subunit of the chromatin remodeling complex. (PMID:38000389)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	baz2ba	ENSDARG00000057782
mus_musculus	Baz2b	ENSMUSG00000026987
rattus_norvegicus	Baz2b	ENSRNOG00000056984
caenorhabditis_elegans	bet-1	WBGENE00022473

Paralogs (11): BAZ1B (ENSG00000009954), BAZ2A (ENSG00000076108), CECR2 (ENSG00000099954), KAT2A (ENSG00000108773), KAT2B (ENSG00000114166), BRDT (ENSG00000137948), BRD4 (ENSG00000141867), BRD3 (ENSG00000169925), BPTF (ENSG00000171634), BAZ1A (ENSG00000198604), BRD2 (ENSG00000204256)

Protein

Protein identifiers

Bromodomain adjacent to zinc finger domain protein 2B — Q9UIF8 (reviewed: Q9UIF8)

Alternative names: hWALp4

All UniProt accessions (6): C9JCA6, Q9UIF8, F6VJC3, H7BXK5, H7C092, H7C1I6

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of the ATP-dependent BRF-1 and BRF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template. The BRF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the BRF-5 ISWI chromatin remodeling complex. Chromatin reader protein, which may play a role in transcriptional regulation via interaction with ISWI. Involved in positively modulating the rate of age-related behavioral deterioration. Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with histone methyltransferase EHMT1.

Subunit / interactions. Component of the BRF-1 ISWI chromatin remodeling complex, at least composed of SMARCA1 and BAZ2B, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA. Within the BRF-1 ISWI chromatin remodeling complex interacts with SMARCA1; the interaction is direct. Component of the BRF-5 ISWI chromatin remodeling complex, at least composed of SMARCA5/SNF2H and BAZ2B, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA. Within the BRF-5 ISWI chromatin remodeling complex interacts with SMARCA5/SNF2H; the interaction is direct. Interacts with acetylated lysine residues on histone H1.4, H2A, H2B, H3 and H4 (in vitro). Interacts with EHMT1.

Subcellular location. Nucleus.

Tissue specificity. Expressed at varying levels in several tissues, whereas a smaller transcript was expressed specifically in testis.

Similarity. Belongs to the WAL family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9UIF8-1	1	yes
Q9UIF8-2	2
Q9UIF8-3	3
Q9UIF8-4	4
Q9UIF8-5	5

RefSeq proteins (4): NP_001276904, NP_001316786, NP_001316787, NP_038478* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001487	Bromodomain	Domain
IPR001739	Methyl_CpG_DNA-bd	Domain
IPR001965	Znf_PHD	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR016177	DNA-bd_dom_sf	Homologous_superfamily
IPR018359	Bromodomain_CS	Conserved_site
IPR018501	DDT_dom	Domain
IPR019787	Znf_PHD-finger	Domain
IPR028941	WHIM2_dom	Domain
IPR036427	Bromodomain-like_sf	Homologous_superfamily
IPR037374	BAZ2A/B_Bromo	Domain

Pfam: PF00439, PF00628, PF01429, PF02791, PF15613

UniProt features (95 total): compositionally biased region 21, helix 14, region of interest 13, sequence conflict 10, strand 9, modified residue 6, sequence variant 5, turn 5, splice variant 4, domain 3, coiled-coil region 2, chain 1, zinc finger region 1, cross-link 1

Structure

Experimental structures (PDB)

264 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
5PG1	X-RAY DIFFRACTION	1.49
5PFM	X-RAY DIFFRACTION	1.54
5PGB	X-RAY DIFFRACTION	1.57
5PGJ	X-RAY DIFFRACTION	1.58
5PGA	X-RAY DIFFRACTION	1.59
4QC3	X-RAY DIFFRACTION	1.6
4QF3	X-RAY DIFFRACTION	1.6
5PGC	X-RAY DIFFRACTION	1.61
5PG9	X-RAY DIFFRACTION	1.62
5PDG	X-RAY DIFFRACTION	1.63
5PFW	X-RAY DIFFRACTION	1.64
5PGS	X-RAY DIFFRACTION	1.64
5PB8	X-RAY DIFFRACTION	1.65
5DYU	X-RAY DIFFRACTION	1.65
5E9Y	X-RAY DIFFRACTION	1.65
5PBX	X-RAY DIFFRACTION	1.65
5PCV	X-RAY DIFFRACTION	1.65
5PE5	X-RAY DIFFRACTION	1.65
5PE8	X-RAY DIFFRACTION	1.65
5PEA	X-RAY DIFFRACTION	1.65
5PFA	X-RAY DIFFRACTION	1.65
5PFP	X-RAY DIFFRACTION	1.65
5PFY	X-RAY DIFFRACTION	1.65
5PG6	X-RAY DIFFRACTION	1.65
5CQ8	X-RAY DIFFRACTION	1.65
5PB7	X-RAY DIFFRACTION	1.66
5PEI	X-RAY DIFFRACTION	1.66
5PFH	X-RAY DIFFRACTION	1.66
5PFI	X-RAY DIFFRACTION	1.66
5PG3	X-RAY DIFFRACTION	1.66

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UIF8-F1	55.23	0.15

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (7): 1462, 1465, 1467, 1680, 2014, 2019, 1425

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 318 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, CREL_01, ZHAN_MULTIPLE_MYELOMA_PR_DN, TTTGTAG_MIR520D, MODULE_418, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, NFKB_Q6, ONKEN_UVEAL_MELANOMA_UP, AAACCAC_MIR140, WANG_LMO4_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, chr2q24, TGTGTGA_MIR377, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN

GO Biological Process (2): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chromatin organization	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BAZ2B	ZNF215	Q9UL58	941
BAZ2B	SMARCA1	P28370	862
BAZ2B	SMARCA5	O60264	844
BAZ2B	ZNF214	Q9UL59	803
BAZ2B	BAZ1B	Q9UIG0	588
BAZ2B	POLE3	Q9NRF9	583
BAZ2B	CECR2	Q9BXF3	541
BAZ2B	CHRAC1	Q9NRG0	502
BAZ2B	ATRX	P46100	501
BAZ2B	HDAC1	Q13547	493
BAZ2B	ATAD2	Q6PL18	485
BAZ2B	WDSUB1	Q8N9V3	475
BAZ2B	SETDB2	Q96T68	467
BAZ2B	H2AC20	Q16777	452
BAZ2B	H2AC19	P20670	452

IntAct

73 interactions, top by confidence:

A	B	Type	Score
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
BAZ2B		psi-mi:“MI:0914”(association)	0.610
	BAZ2B	psi-mi:“MI:0407”(direct interaction)	0.610
BAZ2B	CTBP2	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	CEP70	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	TRAF2	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	APIP	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	HSF2BP	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	FXR2	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	HMBOX1	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	RASGEF1B	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	SEPTIN2	psi-mi:“MI:0915”(physical association)	0.560
BAZ2B	BIVM	psi-mi:“MI:0915”(physical association)	0.560
EPB41L1	AP3B1	psi-mi:“MI:0914”(association)	0.530
HMGN2	BAZ2B	psi-mi:“MI:0915”(physical association)	0.400
BAZ2B	BCAP31	psi-mi:“MI:0915”(physical association)	0.400
BAZ2B	CCT7	psi-mi:“MI:0915”(physical association)	0.400
BAZ2B	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
BAZ2B	HDGFL3	psi-mi:“MI:0915”(physical association)	0.400
BAZ2B		psi-mi:“MI:0915”(physical association)	0.370
BAZ2B	bipA	psi-mi:“MI:0915”(physical association)	0.370
CTBP2	BAZ2B	psi-mi:“MI:0915”(physical association)	0.370
TRIM23	BAZ2B	psi-mi:“MI:0915”(physical association)	0.370
	AP3B1	psi-mi:“MI:0914”(association)	0.350

BioGRID (75): BAZ2B (Two-hybrid), BAZ2B (Two-hybrid), BAZ2B (Two-hybrid), STAC3 (Two-hybrid), ZBTB8A (Two-hybrid), BAZ2B (Two-hybrid), TRIM23 (Two-hybrid), BAZ2B (Affinity Capture-MS), BAZ2B (Affinity Capture-MS), HDGFRP3 (Affinity Capture-MS), INA (Affinity Capture-MS), BAZ2B (Affinity Capture-MS), BAZ2B (Affinity Capture-MS), BAZ2B (Affinity Capture-MS), BAZ2B (Synthetic Lethality)

ESM2 similar proteins: A0JME2, A2AUY4, D3ZKB9, D4A666, E1B7L7, F1QZ88, F6NSX9, F8VPJ6, P59759, P78364, Q08CM4, Q0IHV2, Q15723, Q2IBE6, Q2IBF7, Q2QLB3, Q3TUF7, Q4G0F8, Q5DTH5, Q5U4Q0, Q5ZIE8, Q5ZM88, Q63HK5, Q641Z1, Q6P4L9, Q6P4R8, Q6PIJ4, Q6ZPK0, Q6ZSZ6, Q6ZU65, Q76L83, Q7ZUK7, Q7ZUV7, Q80WC1, Q8AYC1, Q8BZ32, Q8C966, Q8CGV9, Q8CHP6, Q8NDX5

Diamond homologs: A0A0R4IXF6, A0A7U2QYM2, A2AHJ4, A2AUY4, A2BIL7, B2RRD7, B7ZS37, D4A7T3, E9Q2Z1, F1QW93, F1R5H6, F7DRV9, G5E8P1, O15164, O60885, O74350, O88379, O88665, O95696, P13709, P21675, P25440, P35817, P51123, P53236, P54816, P55201, P87152, Q02206, Q03330, Q07442, Q08D75, Q09948, Q12830, Q15059, Q1LUC3, Q23590, Q32S26, Q338B9, Q4R8Y1

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
BAZ2B	“down-regulates activity”	H3-2	binding
BAZ2B	“down-regulates activity”	H3-3A	binding
BAZ2B	“down-regulates activity”	H3-4	binding
BAZ2B	“down-regulates activity”	H3-5	binding
BAZ2B	“down-regulates activity”	H3C1	binding
BAZ2B	“down-regulates activity”	H3C15	binding
BAZ2B	“down-regulates activity”	“Histone H3”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	16
Likely pathogenic	12
Uncertain significance	381
Likely benign	91
Benign	13

Top pathogenic / likely-pathogenic (28)

Variant ID	HGVS	Classification
1455518	NC_000002.11:g.(?160245846)(160335230_?)del	Pathogenic
1526924	GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735)	Pathogenic
1807740	GRCh37/hg19 2q24.2(chr2:160229645-160357102)x1	Pathogenic
2425874	NC_000002.11:g.(?160176776)(160335230_?)del	Pathogenic
2425875	NC_000002.11:g.(?160261360)(160335230_?)del	Pathogenic
2505361	GRCh37/hg19 2q24.2(chr2:159844069-161073462)	Pathogenic
2505362	GRCh37/hg19 2q24.2(chr2:160229645-160357102)	Pathogenic
2505363	NM_013450.4(BAZ2B):c.1435del (p.His479fs)	Pathogenic
3654328	NM_013450.4(BAZ2B):c.3868C>T (p.Arg1290Ter)	Pathogenic
4594643	NM_013450.4(BAZ2B):c.1184dup (p.Glu396fs)	Pathogenic
57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	Pathogenic
800359	GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1	Pathogenic
800360	GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1	Pathogenic
800361	NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter)	Pathogenic
800362	NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr)	Pathogenic
800363	NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val)	Pathogenic
1505273	NM_013450.4(BAZ2B):c.3075+1G>A	Likely pathogenic
1676314	NM_013450.4(BAZ2B):c.2813del (p.Ile938fs)	Likely pathogenic
2430249	NM_013450.4(BAZ2B):c.5797-1G>C	Likely pathogenic
2502177	NM_013450.4(BAZ2B):c.1360del (p.Val454fs)	Likely pathogenic
2505364	NM_013450.4(BAZ2B):c.502G>A (p.Gly168Ser)	Likely pathogenic
2505365	NM_013450.4(BAZ2B):c.2152C>T (p.Leu718Phe)	Likely pathogenic
2505366	NM_013450.4(BAZ2B):c.3075+3_3075+6del	Likely pathogenic
4087846	NM_013450.4(BAZ2B):c.145+1G>A	Likely pathogenic
4538187	NM_013450.4(BAZ2B):c.5560G>T (p.Glu1854Ter)	Likely pathogenic
4594523	NM_013450.4(BAZ2B):c.2255+1G>T	Likely pathogenic
4795467	NM_013450.4(BAZ2B):c.4598C>G (p.Ser1533Ter)	Likely pathogenic
932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	Likely pathogenic

SpliceAI

8062 predictions. Top by Δscore:

Variant	Effect	Δscore
2:159321909:T:C	donor_gain	1.0000
2:159324950:TCATA:T	acceptor_gain	1.0000
2:159324951:CATA:C	acceptor_gain	1.0000
2:159324951:CATAC:C	acceptor_gain	1.0000
2:159324953:TA:T	acceptor_gain	1.0000
2:159324955:C:CC	acceptor_gain	1.0000
2:159325647:TAATA:T	donor_loss	1.0000
2:159325648:AATAC:A	donor_loss	1.0000
2:159325649:ATAC:A	donor_loss	1.0000
2:159325650:TACCT:T	donor_loss	1.0000
2:159325651:ACCTG:A	donor_loss	1.0000
2:159325652:C:G	donor_loss	1.0000
2:159325926:T:C	acceptor_gain	1.0000
2:159325926:T:TC	acceptor_gain	1.0000
2:159332534:TCTTA:T	donor_loss	1.0000
2:159332535:CTTAC:C	donor_loss	1.0000
2:159332536:TTA:T	donor_loss	1.0000
2:159332537:TACCT:T	donor_loss	1.0000
2:159332538:A:AC	donor_gain	1.0000
2:159332538:ACCTT:A	donor_loss	1.0000
2:159332539:C:CC	donor_gain	1.0000
2:159332682:CAGTA:C	acceptor_gain	1.0000
2:159332683:AGTA:A	acceptor_gain	1.0000
2:159332684:GTA:G	acceptor_gain	1.0000
2:159332685:TA:T	acceptor_gain	1.0000
2:159332686:AC:A	acceptor_loss	1.0000
2:159332687:C:CC	acceptor_gain	1.0000
2:159332687:C:T	acceptor_loss	1.0000
2:159332696:A:C	acceptor_gain	1.0000
2:159336940:A:AC	donor_gain	1.0000

AlphaMissense

14296 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:159320323:C:T	G2150D	1.000
2:159320332:C:T	G2147D	1.000
2:159320366:A:G	C2136R	1.000
2:159332549:G:C	C1978W	1.000
2:159332550:C:G	C1978S	1.000
2:159332550:C:T	C1978Y	1.000
2:159332551:A:G	C1978R	1.000
2:159332551:A:T	C1978S	1.000
2:159332558:A:C	C1975W	1.000
2:159332559:C:G	C1975S	1.000
2:159332559:C:T	C1975Y	1.000
2:159332560:A:G	C1975R	1.000
2:159332560:A:T	C1975S	1.000
2:159332564:C:A	W1973C	1.000
2:159332564:C:G	W1973C	1.000
2:159332566:A:G	W1973R	1.000
2:159332566:A:T	W1973R	1.000
2:159332603:G:C	C1960W	1.000
2:159332604:C:A	C1960F	1.000
2:159332604:C:G	C1960S	1.000
2:159332604:C:T	C1960Y	1.000
2:159332605:A:G	C1960R	1.000
2:159332605:A:T	C1960S	1.000
2:159332612:A:C	H1957Q	1.000
2:159332612:A:T	H1957Q	1.000
2:159332614:G:C	H1957D	1.000
2:159332617:A:G	C1956R	1.000
2:159332620:C:G	G1955R	1.000
2:159332627:A:C	C1952W	1.000
2:159332628:C:A	C1952F	1.000

dbSNP variants (sampled 300 via entrez): RS1000004404 (2:159611121 T>G), RS1000011627 (2:159657460 G>A), RS1000035808 (2:159700018 G>A), RS1000044826 (2:159470747 A>T), RS1000061846 (2:159360212 G>A), RS1000063131 (2:159560756 T>C), RS1000079538 (2:159566823 T>A), RS1000080142 (2:159522288 A>T), RS1000089325 (2:159425900 A>G), RS1000096739 (2:159471076 T>C), RS1000103642 (2:159657875 A>G), RS1000132099 (2:159594034 G>C), RS1000142497 (2:159414528 C>T), RS1000148273 (2:159516142 T>C), RS1000169614 (2:159553787 T>C)

Disease associations

OMIM: gene MIM:605683 | disease phenotypes: MIM:189800, MIM:610805

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	AD

Mondo (4): preeclampsia (MONDO:0005081), neurodevelopmental disorder (MONDO:0700092), congenital heart disease (MONDO:0005453), congenital anomaly of kidney and urinary tract (MONDO:0019719)

Orphanet (2): Preeclampsia (Orphanet:275555), Renal or urinary tract malformation (Orphanet:93545)

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST001132_1	Sudden cardiac arrest	2.000000e-10
GCST003542_72	Night sleep phenotypes	3.000000e-07
GCST007277_3	Tourette syndrome	2.000000e-07
GCST010002_402	Refractive error	8.000000e-10
GCST010916_9	Proportion of activated microglia (inferior temporal cortex)	2.000000e-06
GCST012095_13	Major depressive episode treated with electroconvulsive therapy	3.000000e-06
GCST012145_3	Ferritin levels	7.000000e-07
GCST012490_120	Femur bone mineral density x serum urate levels interaction	1.000000e-08
GCST90002393_385	Monocyte count	2.000000e-15
GCST90002399_116	Neutrophil percentage of white cells	8.000000e-16

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004278	sudden cardiac arrest
EFO:0007827	nighttime rest measurement
EFO:0007634	major depressive episode
EFO:0004459	ferritin measurement
EFO:0004531	urate measurement
EFO:0005091	monocyte count
EFO:0007990	neutrophil percentage of leukocytes

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D065886	Neurodevelopmental Disorders	F03.625
D011225	Pre-Eclampsia	C12.050.703.395.249
C566906	Cakut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1741220 (SINGLE PROTEIN), CHEMBL6195506 (PROTEIN-PROTEIN INTERACTION)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10489997	BAZ2B		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Non-enzymatic BRD containing proteins

Most potent curated ligand interactions (4 total), top 4:

Ligand	Action	Affinity	Parameter
GSK2801	Binding	6.87	pKd
BAZ2-ICR	Inhibition	6.77	pKd
compound 7 [PMID: 25719566]	Inhibition	5.96	pIC50
compound 1 [PMID: 25719566]	Inhibition	4.6	pIC50

ChEMBL bioactivities

82 potent at pChembl≥5 of 132 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.04	Kd	9.2	nM	CHEMBL6164868
8.00	Kd	10	nM	CHEMBL6165031
7.80	Kd	16	nM	CHEMBL6168230
7.70	Kd	20	nM	CHEMBL4296718
7.29	Kd	51	nM	CHEMBL6169394
7.22	Kd	60	nM	CHEMBL3739699
7.00	Kd	100	nM	CHEMBL3739699
6.87	Kd	136	nM	CHEMBL3739699
6.85	Kd	140	nM	CHEMBL3739699
6.77	Kd	170	nM	CHEMBL4296718
6.76	IC50	174	nM	CHEMBL4296718
6.75	IC50	180	nM	CHEMBL4296718
6.72	Kd	190	nM	CHEMBL5274024
6.44	IC50	360	nM	CHEMBL3739699
6.43	IC50	370	nM	CHEMBL3771216
6.40	Kd	400	nM	CHEMBL3774575
6.40	Kd	400	nM	CHEMBL5715923
6.39	IC50	410	nM	CHEMBL3770155
6.37	IC50	430	nM	CHEMBL3739699
6.27	IC50	540	nM	CHEMBL3770449
6.21	IC50	610	nM	CHEMBL3770493
6.17	IC50	670	nM	CHEMBL3770199
6.11	IC50	770	nM	CHEMBL3415184
6.10	IC50	790	nM	CHEMBL3415185
6.09	IC50	820	nM	CHEMBL3770214
6.08	IC50	840	nM	CHEMBL3770277
6.08	Ki	840	nM	CHEMBL4069412
6.00	IC50	1000	nM	CHEMBL3770112
6.00	Ki	1000	nM	CHEMBL4864027
6.00	Kd	1000	nM	CHEMBL3823478
5.97	IC50	1070	nM	CHEMBL3415182
5.89	IC50	1300	nM	CHEMBL3770847
5.82	IC50	1500	nM	CHEMBL3769588
5.77	IC50	1690	nM	CHEMBL4159164
5.72	IC50	1900	nM	CHEMBL3771370
5.72	IC50	1900	nM	CHEMBL3770738
5.72	Kd	1900	nM	CHEMBL4208820
5.65	Ki	2260	nM	CHEMBL3086884
5.61	IC50	2450	nM	CHEMBL3415186
5.60	IC50	2512	nM	CHEMBL3741262
5.50	IC50	3162	nM	CHEMBL3739482
5.50	Kd	3162	nM	CHEMBL3739699
5.48	Ki	3300	nM	CHEMBL3086885
5.48	Ki	3290	nM	CHEMBL3086883
5.44	IC50	3600	nM	CHEMBL4436408
5.42	IC50	3800	nM	CHEMBL3771080
5.39	IC50	4100	nM	CHEMBL3769753
5.36	IC50	4400	nM	CHEMBL3415177
5.28	IC50	5250	nM	CHEMBL3415179
5.22	Kd	6000	nM	CHEMBL4284812

PubChem BioAssay actives

64 with measured affinity, of 447 total; 38 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
1-[1-(2-methylsulfonylphenyl)-7-propoxyindolizin-3-yl]ethanone	1279754: Binding affinity to biotinylated C-terminal Avi/His-TEV-tagged BAZ2B (unknown origin) expressed in Escherichia coli by Biolayer Interferometric analysis	kd	0.0600	uM
4-[5-(1-methylpyrazol-4-yl)-3-[2-(1-methylpyrazol-4-yl)ethyl]imidazol-4-yl]benzonitrile	1200866: Binding affinity to BAZ2B (unknown origin) by isothermal titration calorimetric analysis	kd	0.1700	uM
1-[1-[2-(hydroxymethyl)phenyl]-7-methylindolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	0.3700	uM
N-[6-[3-[4-(dimethylamino)butoxy]-5-propoxyphenoxy]-1,3-dimethyl-2-oxobenzimidazol-5-yl]-3,4-dimethoxybenzenesulfonamide	1282166: Binding affinity to recombinant human BAZ2B expressed in bacterial system by bromoscan assay	kd	0.4000	uM
1-[1-[2-(hydroxymethyl)phenyl]-7-methoxyindolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	0.4100	uM
1-[1-[2-(hydroxymethyl)phenyl]-7-morpholin-4-ylindolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	0.5400	uM
1-[1-[2-(hydroxymethyl)phenyl]-7-phenoxyindolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	0.6100	uM
tert-butyl N-[[3-acetyl-1-(2-methylsulfonylphenyl)indolizin-7-yl]methyl]carbamate	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	0.6700	uM
3-fluoro-4-[5-(1-methylpyrazol-4-yl)-3-[(4-methyltriazol-1-yl)methyl]imidazol-4-yl]benzonitrile	1200864: Displacement of H3K14Ac from BAZ2B (unknown origin) preincubated for 30 mins with non-biotinylated peptide followed by addition of biotinylated peptide measured after 30 mins by AlphaScreen assay	ic50	0.7700	uM
2-fluoro-4-[5-(1-methylpyrazol-4-yl)-3-[(4-methyltriazol-1-yl)methyl]imidazol-4-yl]benzonitrile	1200864: Displacement of H3K14Ac from BAZ2B (unknown origin) preincubated for 30 mins with non-biotinylated peptide followed by addition of biotinylated peptide measured after 30 mins by AlphaScreen assay	ic50	0.7900	uM
1-[7-methoxy-1-(2-methylsulfonylphenyl)indolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	0.8200	uM
1-[1-(2-methylsulfonylphenyl)-7-phenoxyindolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	0.8400	uM
4-[4-[(dimethylamino)methyl]-3,5-dimethoxyphenyl]-2-methyl-2,7-naphthyridin-1-one	2191056: Binding affinity to BAZ2B (unknown origin) assessed as dissociation constant by bromoKdselect analysis	kd	1.0000	uM
1-[1-[2-(hydroxymethyl)phenyl]indolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	1.0000	uM
8-[[1-(3-amino-2,2-difluoropropanoyl)piperidin-4-yl]amino]-5-(3,6-dihydro-2H-pyran-4-yl)-3-methyl-1H-1,7-naphthyridin-2-one	1766149: Inhibition of human partial length BAZ2B (S2054 to S2168 residues) expressed in bacterial expression system by BROMOscan assay	ki	1.0000	uM
4-[5-(1-methylpyrazol-4-yl)-3-[2-(4-methyltriazol-1-yl)ethyl]imidazol-4-yl]benzonitrile	1200864: Displacement of H3K14Ac from BAZ2B (unknown origin) preincubated for 30 mins with non-biotinylated peptide followed by addition of biotinylated peptide measured after 30 mins by AlphaScreen assay	ic50	1.0700	uM
1-[1-(2-methylsulfonylphenyl)indolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	1.3000	uM
1-[1-[2-(hydroxymethyl)-4-methoxyphenyl]indolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	1.5000	uM
3-[(1-acetylindole-3-carbonyl)amino]-5-(furan-2-yl)benzoic acid	1353775: Inhibition of biotinylated-H4KAc4 binding to human His6-tagged BAZ2B (S1858 to S1972 residues) expressed in Escherichia coli BL21(DE3) after 2.5 hrs by luminescence-based AlphaScreen assay	ic50	1.6900	uM
3-acetyl-1-[2-(hydroxymethyl)phenyl]indolizine-7-carboxamide	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	1.9000	uM
1-[7-methyl-1-(2-methylsulfonylphenyl)indolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	1.9000	uM
5-[8-[5-acetyl-1-(oxan-4-yl)-6,7-dihydro-4H-pyrazolo[4,3-c]pyridin-3-yl]isoquinolin-3-yl]-N-methylpyridine-2-carboxamide	1372240: Binding affinity to human partial length BAZ2B (S2054 to S2168 residues) expressed in bacterial expression system by BROMOscan assay	kd	1.9000	uM
4-[(2-amino-4-hydroxy-3,5-dimethylphenyl)diazenyl]-N-pyridin-2-ylbenzenesulfonamide	1054707: Displacement of fluorescein-labeled MS239 from recombinant human BAZ2b after 1 hr by fluorescence anisotropy assay	ki	2.2600	uM
4-methyl-1-[[4-(1-methylpyrazol-4-yl)-5-(4-nitrophenyl)imidazol-1-yl]methyl]triazole	1200864: Displacement of H3K14Ac from BAZ2B (unknown origin) preincubated for 30 mins with non-biotinylated peptide followed by addition of biotinylated peptide measured after 30 mins by AlphaScreen assay	ic50	2.4500	uM
4-[(2-amino-4-hydroxy-5-methylphenyl)diazenyl]-N-pyridin-2-ylbenzenesulfonamide	1054707: Displacement of fluorescein-labeled MS239 from recombinant human BAZ2b after 1 hr by fluorescence anisotropy assay	ki	3.2900	uM
4-[(2-amino-3-chloro-4-hydroxy-5-methylphenyl)diazenyl]-N-pyridin-2-ylbenzenesulfonamide	1054707: Displacement of fluorescein-labeled MS239 from recombinant human BAZ2b after 1 hr by fluorescence anisotropy assay	ki	3.3000	uM
N,N-dimethyl-3-(6-methyl-7-oxo-1H-pyrrolo[2,3-c]pyridin-4-yl)benzamide	1625930: Binding affinity to human partial length BAZ2B expressed in bacterial expression system by BROMOscan assay	ic50	3.6000	uM
1-[1-[4-(dimethylamino)phenyl]indolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	3.8000	uM
1-[1-[4-(hydroxymethyl)phenyl]indolizin-3-yl]ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	4.1000	uM
4-[3-[2-(4-methyltriazol-1-yl)ethyl]-5-pyridin-4-ylimidazol-4-yl]benzonitrile	1200864: Displacement of H3K14Ac from BAZ2B (unknown origin) preincubated for 30 mins with non-biotinylated peptide followed by addition of biotinylated peptide measured after 30 mins by AlphaScreen assay	ic50	4.4000	uM
4-[3-[2-(4-methyltriazol-1-yl)ethyl]-5-(1,3-thiazol-5-yl)imidazol-4-yl]benzonitrile	1200864: Displacement of H3K14Ac from BAZ2B (unknown origin) preincubated for 30 mins with non-biotinylated peptide followed by addition of biotinylated peptide measured after 30 mins by AlphaScreen assay	ic50	5.2500	uM
N-[(4-fluorophenyl)methyl]-1,3,6-trimethyl-2-oxobenzimidazole-5-sulfonamide	1406782: Binding affinity to recombinant human BAZ2B (S2054 to S2168 residues) expressed in bacterial expression system by BROMOscan assay	kd	6.0000	uM
1-(1-pyridin-2-ylindolizin-3-yl)ethanone	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	7.0000	uM
8-[[(3R,4R)-3-[(1,1-dioxothian-4-yl)methoxy]piperidin-4-yl]amino]-3-methyl-5-(5-methyl-3-pyridinyl)-1H-quinolin-2-one	1234393: Binding affinity to BAZ2B in human HUT78 cells incubated for 45 mins by mass spectrometry based bromosphere chemoproteomic assay	kd	7.9433	uM
8-chloro-N-methyl-1,3,4,5-tetrahydropyrido[4,3-b]indole-2-carboxamide	1065934: Binding affinity to human BAZ2B expressed in Escherichia coli BL21(DE3) by direct isothermal titration calorimetric analysis	kd	8.0000	uM
1-[3-(2-methylsulfonylphenyl)-5-propoxyindol-1-yl]ethanone	1301562: Competitive binding affinity to His-tagged BRAZ2B (unknown origin) expressed in Escherichia coli BL21(DE3) cells by AlphaScreen assay in presence of biotinylated histone H3 peptide (1 to 21 residues) K9/14Ac	ic50	8.5500	uM
3-(3-acetylindolizin-1-yl)benzamide	1279751: Inhibition of recombinant His6-TEV fused human BAZ2B expressed in Escherichia coli incubated for 30 mins in presence of biotinylated peptide by alpha screen assay	ic50	9.8000	uM
1-(8-bromo-1,3,4,5-tetrahydropyrido[4,3-b]indol-2-yl)ethanone	1065933: Binding affinity to human BAZ2B expressed in Escherichia coli BL21(DE3) by competitive isothermal titration calorimetric analysis	kd	10.0000	uM

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	8
sodium arsenite	affects methylation, decreases expression, increases expression	5
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	4
potassium chromate(VI)	affects cotreatment, decreases expression	2
entinostat	decreases expression, affects cotreatment	2
Tretinoin	increases expression	2
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases methylation	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	increases methylation	1
geraniol	increases expression	1
cobaltous chloride	affects expression	1
butyraldehyde	decreases expression	1
manganese chloride	increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
bisphenol S	affects cotreatment, decreases methylation	1
jinfukang	decreases expression, affects cotreatment	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1

ChEMBL screening assays

142 unique, capped per target: 140 binding, 2 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1738312	Functional	PUBCHEM_BIOASSAY: qHTS Assay for Inhibitors of BAZ2B. (Class of assay: confirmatory) [Related pubchem assays (depositor defined):AID504391]	PubChem BioAssay data set
CHEMBL1832994	Binding	Binding affinity to BAZ2B assessed as change in melting temperature at 100 uM by differential scanning fluorimetry	3,5-dimethylisoxazoles act as acetyl-lysine-mimetic bromodomain ligands. — J Med Chem

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SE76	HAP1 BAZ2B (-) 1	Cancer cell line	Male
CVCL_SE77	HAP1 BAZ2B (-) 2	Cancer cell line	Male
CVCL_SE78	HAP1 BAZ2B (-) 3	Cancer cell line	Male
CVCL_SE79	HAP1 BAZ2B (-) 4	Cancer cell line	Male
CVCL_SE80	HAP1 BAZ2B (-) 5	Cancer cell line	Male
CVCL_SE81	HAP1 BAZ2B (-) 6	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00117546	PHASE4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	PHASE4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	PHASE4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	PHASE4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	PHASE4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	PHASE4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	PHASE4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	PHASE4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	PHASE4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	PHASE4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	PHASE4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	PHASE4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	PHASE4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	PHASE4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	PHASE4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	PHASE4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	PHASE4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	PHASE4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	PHASE4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	PHASE4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	PHASE4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	PHASE4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	PHASE4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	PHASE4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	PHASE4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	PHASE4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	PHASE4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	PHASE4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	PHASE4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	PHASE4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	PHASE4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	PHASE4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	PHASE4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	PHASE4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	PHASE4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	PHASE4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	PHASE4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	PHASE4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum