BCL7B

Summary

BCL7B (BAF chromatin remodeling complex subunit BCL7B, HGNC:1005) is a protein-coding gene on chromosome 7q11.23, encoding B-cell CLL/lymphoma 7 protein family member B (Q9BQE9). Positive regulator of apoptosis.

This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 9275 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 33 total — 2 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001707

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1005
Approved symbol	BCL7B
Name	BAF chromatin remodeling complex subunit BCL7B
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	SMARCJ2
Ensembl gene	ENSG00000106635
Ensembl biotype	protein_coding
OMIM	605846
Entrez	9275

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 9 protein_coding, 5 protein_coding_CDS_not_defined, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000223368, ENST00000411832, ENST00000416906, ENST00000448175, ENST00000454871, ENST00000455335, ENST00000463858, ENST00000464288, ENST00000481667, ENST00000482231, ENST00000486818, ENST00000493592, ENST00000493671, ENST00000493679, ENST00000871800, ENST00000871801, ENST00000871802, ENST00000945442, ENST00000945443, ENST00000945444

RefSeq mRNA: 3 — MANE Select: NM_001707 NM_001197244, NM_001301061, NM_001707

CCDS: CCDS5550, CCDS56489, CCDS75613

Canonical transcript exons

ENST00000223368 — 6 exons

Exon	Start	End
ENSE00001017415	73557487	73557690
ENSE00003470341	73537934	73538013
ENSE00003494651	73536356	73537390
ENSE00003532604	73543548	73543644
ENSE00003669424	73552167	73552242
ENSE00003747046	73539882	73540052

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 96.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.7061 / max 594.9924, expressed in 1823 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84304	27.3549	1820
84302	2.4516	1236
84301	1.9840	1144
84303	0.3327	150
84300	0.3309	99
84305	0.2519	134

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus muscularis layer	UBERON:0035833	96.38	gold quality
lower esophagus	UBERON:0013473	96.37	gold quality
apex of heart	UBERON:0002098	96.04	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.01	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.93	gold quality
gastrocnemius	UBERON:0001388	95.90	gold quality
popliteal artery	UBERON:0002250	95.77	gold quality
tibial artery	UBERON:0007610	95.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.41	gold quality
muscle of leg	UBERON:0001383	95.38	gold quality
aorta	UBERON:0000947	95.26	gold quality
left coronary artery	UBERON:0001626	95.14	gold quality
mucosa of stomach	UBERON:0001199	95.03	gold quality
right coronary artery	UBERON:0001625	94.89	gold quality
right atrium auricular region	UBERON:0006631	94.83	gold quality
thoracic aorta	UBERON:0001515	94.74	gold quality
ascending aorta	UBERON:0001496	94.71	gold quality
coronary artery	UBERON:0001621	94.63	gold quality
heart left ventricle	UBERON:0002084	94.63	gold quality
adenohypophysis	UBERON:0002196	94.61	gold quality
granulocyte	CL:0000094	94.39	gold quality
cardiac ventricle	UBERON:0002082	94.28	gold quality
right frontal lobe	UBERON:0002810	94.24	gold quality
upper lobe of left lung	UBERON:0008952	94.14	gold quality
cardiac atrium	UBERON:0002081	94.11	gold quality
descending thoracic aorta	UBERON:0002345	94.06	gold quality
nucleus accumbens	UBERON:0001882	94.02	gold quality
cingulate cortex	UBERON:0003027	93.98	gold quality
prefrontal cortex	UBERON:0000451	93.88	gold quality
anterior cingulate cortex	UBERON:0009835	93.88	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	no	2.82
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting BCL7B, 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-7110-3P	100.00	73.18	2486
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1207-5P	99.49	69.11	2983

Literature-anchored findings (GeneRIF, showing 4)

• BCL7B gene deltion is associated with Williams-Beuren Syndrome leading to Burkitt Leukemia. (PMID:23018576)
• our data indicate that BCL7B/BCL-7 has some roles in maintaining the structure of nuclei and is involved in the modulation of multiple pathways, including Wnt and apoptosis. (PMID:25569233)
• We herewith propose that the BCL7B gene, located in the chromosomal region commonly deleted in Williams syndrome, could potentially have a role in this particular association. (PMID:27771473)
• the combination of PODXL with ITGB1 and the combination of BCL7B with ITGB1 accurately predicted the postoperative outcomes of pancreatic cancer patients. (PMID:31166991)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	bcl7bb	ENSDARG00000040396
danio_rerio	bcl7ba	ENSDARG00000111877
mus_musculus	Bcl7b	ENSMUSG00000029681
rattus_norvegicus	Bcl7b	ENSRNOG00000032705
drosophila_melanogaster	BCL7-like	FBGN0026149
caenorhabditis_elegans		WBGENE00016192

Paralogs (2): BCL7C (ENSG00000099385), BCL7A (ENSG00000110987)

Protein

Protein identifiers

B-cell CLL/lymphoma 7 protein family member B — Q9BQE9 (reviewed: Q9BQE9)

All UniProt accessions (4): Q9BQE9, F2Z3H6, F8WDZ4, F8WE18

UniProt curated annotations — full annotation on UniProt →

Function. Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1. Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation. May play a role in lung tumor development or progression.

Tissue specificity. Ubiquitous.

Disease relevance. BCL7B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BCL7B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Similarity. Belongs to the BCL7 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BQE9-1	1	yes
Q9BQE9-2	2
Q9BQE9-3	3
Q9BQE9-4	4

RefSeq proteins (3): NP_001184173, NP_001287990, NP_001698* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006804	BCL7	Family

Pfam: PF04714

UniProt features (17 total): modified residue 7, splice variant 5, compositionally biased region 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9UXC	ELECTRON MICROSCOPY	2.74
9UXB	ELECTRON MICROSCOPY	2.92
9UXA	ELECTRON MICROSCOPY	3.28

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQE9-F1	63.91	0.19

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): 152, 114, 118, 120, 122, 127, 148

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-9824585	Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-9845323	Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
R-HSA-9933937	Formation of the canonical BAF (cBAF) complex
R-HSA-9933939	Formation of the polybromo-BAF (pBAF) complex
R-HSA-9933946	Formation of the embryonic stem cell BAF (esBAF) complex
R-HSA-9933947	Formation of the non-canonical BAF (ncBAF) complex
R-HSA-9934037	Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
R-HSA-1266738	Developmental Biology
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-74160	Gene expression (Transcription)
R-HSA-9730414	MITF-M-regulated melanocyte development
R-HSA-9842860	Regulation of endogenous retroelements
R-HSA-9856651	MITF-M-dependent gene expression

MSigDB gene sets: 204 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_CHROMOSOME_ORGANIZATION, MORF_UBE2I, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_NUCLEOTIDE_EXCISION_REPAIR, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GOBP_REGULATION_OF_CHROMOSOME_SEGREGATION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_DNA_DAMAGE_RESPONSE

GO Biological Process (13): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), apoptotic process (GO:0006915), positive regulation of cell population proliferation (GO:0008284), Wnt signaling pathway (GO:0016055), regulation of mitotic metaphase/anaphase transition (GO:0030071), cell differentiation (GO:0030154), negative regulation of cell differentiation (GO:0045596), regulation of G0 to G1 transition (GO:0070316), positive regulation of stem cell population maintenance (GO:1902459), regulation of G1/S transition of mitotic cell cycle (GO:2000045), positive regulation of double-strand break repair (GO:2000781), regulation of nucleotide-excision repair (GO:2000819)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleoplasm (GO:0005654), SWI/SNF complex (GO:0016514), GBAF complex (GO:0140288)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
SWI/SNF chromatin remodelers	5
MITF-M-dependent gene expression	1
Regulation of endogenous retroelements	1
Gene expression (Transcription)	1
Developmental Biology	1
Epigenetic regulation of gene expression	1
MITF-M-regulated melanocyte development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of mitotic cell cycle phase transition	2
cellular anatomical structure	2
SWI/SNF superfamily-type complex	2
chromatin organization	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell surface receptor signaling pathway	1
metaphase/anaphase transition of mitotic cell cycle	1
regulation of metaphase/anaphase transition of cell cycle	1
cellular developmental process	1
cell differentiation	1
regulation of cell differentiation	1
negative regulation of cellular process	1
negative regulation of developmental process	1
regulation of cell cycle process	1
G0 to G1 transition	1
stem cell population maintenance	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
regulation of stem cell population maintenance	1
G1/S transition of mitotic cell cycle	1
regulation of cell cycle G1/S phase transition	1
double-strand break repair	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
regulation of DNA repair	1
nucleotide-excision repair	1
cytoskeletal protein binding	1
binding	1
chromosome	1
nuclear lumen	1

Protein interactions and networks

STRING

502 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BCL7B	TBL2	Q9Y4P3	910
BCL7B	DPF1	Q92782	757
BCL7B	GTF2IRD1	Q9UHL9	737
BCL7B	TRIM50	Q86XT4	725
BCL7B	SS18L1	O75177	720
BCL7B	BAZ1B	Q9UIG0	718
BCL7B	BCL7C	Q8WUZ0	716
BCL7B	MLXIPL	Q9NP71	714
BCL7B	ARID1A	O14497	711
BCL7B	BRD9	Q9H8M2	705
BCL7B	EIF4H	Q15056	704
BCL7B	CALD1	Q05682	690
BCL7B	DPF3	Q92784	689
BCL7B	SMARCC1	Q92922	666
BCL7B	BICRAL	Q6AI39	666

IntAct

118 interactions, top by confidence:

A	B	Type	Score
MAPKAPK5	MAPK6	psi-mi:“MI:0914”(association)	0.920
LCOR	CTBP2	psi-mi:“MI:0914”(association)	0.880
SMARCB1	ARID1A	psi-mi:“MI:0914”(association)	0.860
SMARCE1	ARID1A	psi-mi:“MI:0914”(association)	0.840
NUP50	KPNA4	psi-mi:“MI:0914”(association)	0.830
SMARCD1	ARID1A	psi-mi:“MI:0914”(association)	0.790
SMARCC2	ARID1A	psi-mi:“MI:0914”(association)	0.790
SS18	ARID1A	psi-mi:“MI:0914”(association)	0.760
DPF2	ARID1A	psi-mi:“MI:0914”(association)	0.730
PSMC5	PSMD11	psi-mi:“MI:0914”(association)	0.730
SMARCE1	SMARCA2	psi-mi:“MI:0914”(association)	0.730
MAGEA6	BCL7B	psi-mi:“MI:0915”(physical association)	0.720
BCL7B	MAGEA6	psi-mi:“MI:0915”(physical association)	0.720
PSMD3	PSMD6	psi-mi:“MI:0914”(association)	0.670
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
RHOD	PLXNB2	psi-mi:“MI:0914”(association)	0.640

BioGRID (152): BCL7B (Two-hybrid), BCL7B (Affinity Capture-MS), BCL7B (Affinity Capture-MS), BCL7B (Affinity Capture-MS), BCL7B (Affinity Capture-MS), BCL7B (Affinity Capture-MS), BCL7B (Affinity Capture-MS), BCL7B (Affinity Capture-MS), ARID1A (Co-fractionation), BCL7B (Co-fractionation), BCL7B (Co-fractionation), BCL7B (Co-fractionation), BCL7B (Co-fractionation), BCL7B (Co-fractionation), SMARCA4 (Co-fractionation)

ESM2 similar proteins: A0A1B0GUA9, A0A1B0GV96, A4IFJ0, B3DGJ2, O43687, O55074, O70139, O75167, P04370, P0C8S0, P0C913, P0C914, P0CD96, P19103, P27775, P49342, P61925, P61926, P62025, P63248, P63249, Q04758, Q13522, Q29026, Q3SX13, Q3T0A6, Q3ZB98, Q4VC05, Q5FVI4, Q5R6X9, Q64256, Q6P3A1, Q71U53, Q7M2N1, Q7YQJ3, Q7YQJ4, Q8N111, Q8R409, Q8TAD7, Q8WMS3

Diamond homologs: A2BIL8, O08664, Q09242, Q3T0A6, Q4VC05, Q5XFY4, Q5XH61, Q6DEV7, Q6NWJ0, Q8WUZ0, Q921K9, Q9BQE9, Q9CXE2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
BCL7B	“form complex”	GBAF	binding
BCL7B	“form complex”	“Embryonic stem cell-specific SWI/SNF”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the canonical BAF (cBAF) complex	11	81.2×	2e-17
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	12	63.7×	2e-17
Formation of the embryonic stem cell BAF (esBAF) complex	9	62.9×	6e-13
Formation of the polybromo-BAF (pBAF) complex	7	51.6×	2e-09
Formation of the non-canonical BAF (ncBAF) complex	6	46.9×	9e-08
Regulation of endogenous retroelements	9	38.5×	9e-11
Regulation of MITF-M-dependent genes involved in pigmentation	12	37.1×	3e-14
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	8	28.0×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
regulation of G0 to G1 transition	11	63.4×	4e-15
regulation of nucleotide-excision repair	11	56.6×	9e-15
regulation of mitotic metaphase/anaphase transition	11	46.6×	7e-14
nucleosome disassembly	6	41.1×	4e-07
positive regulation of double-strand break repair	11	32.3×	5e-12
positive regulation of stem cell population maintenance	10	29.4×	1e-10
regulation of G1/S transition of mitotic cell cycle	11	28.8×	2e-11
positive regulation of T cell differentiation	7	27.2×	4e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	16
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	Pathogenic
57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	Pathogenic

SpliceAI

1269 predictions. Top by Δscore:

Variant	Effect	Δscore
7:73539877:CTCA:C	donor_loss	1.0000
7:73539878:TCA:T	donor_loss	1.0000
7:73539879:CA:C	donor_loss	1.0000
7:73539880:A:AC	donor_gain	1.0000
7:73539880:AC:A	donor_gain	1.0000
7:73539880:ACCCT:A	donor_gain	1.0000
7:73539881:C:CC	donor_gain	1.0000
7:73539881:C:CT	donor_loss	1.0000
7:73539881:CC:C	donor_gain	1.0000
7:73539881:CCCT:C	donor_gain	1.0000
7:73539881:CCCTC:C	donor_gain	1.0000
7:73540048:TTCGT:T	acceptor_gain	1.0000
7:73540049:TCGT:T	acceptor_gain	1.0000
7:73540050:CGT:C	acceptor_gain	1.0000
7:73540050:CGTC:C	acceptor_gain	1.0000
7:73540051:GT:G	acceptor_gain	1.0000
7:73540052:TCTGA:T	acceptor_loss	1.0000
7:73540053:C:CC	acceptor_gain	1.0000
7:73540053:CT:C	acceptor_loss	1.0000
7:73540054:T:G	acceptor_loss	1.0000
7:73540061:C:CT	acceptor_gain	1.0000
7:73540061:C:T	acceptor_gain	1.0000
7:73540062:A:T	acceptor_gain	1.0000
7:73552161:ACTT:A	donor_loss	1.0000
7:73552162:CTTA:C	donor_loss	1.0000
7:73552163:TTA:T	donor_loss	1.0000
7:73552164:TACC:T	donor_loss	1.0000
7:73537060:CAACT:C	acceptor_gain	0.9900
7:73537064:T:C	acceptor_gain	0.9900
7:73537389:ACCTA:A	acceptor_loss	0.9900

AlphaMissense

1312 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:73552189:A:T	V49D	1.000
7:73552191:C:A	W48C	1.000
7:73552191:C:G	W48C	1.000
7:73552192:C:G	W48S	1.000
7:73552193:A:G	W48R	1.000
7:73552193:A:T	W48R	1.000
7:73552194:C:A	K47N	1.000
7:73552194:C:G	K47N	1.000
7:73552196:T:C	K47E	1.000
7:73552201:A:C	I45R	1.000
7:73552201:A:G	I45T	1.000
7:73552201:A:T	I45K	1.000
7:73552207:A:G	L43P	1.000
7:73552207:A:T	L43Q	1.000
7:73552222:A:T	V38E	1.000
7:73552230:C:A	W35C	1.000
7:73552230:C:G	W35C	1.000
7:73552231:C:G	W35S	1.000
7:73552232:A:G	W35R	1.000
7:73552232:A:T	W35R	1.000
7:73552236:C:A	K33N	1.000
7:73552236:C:G	K33N	1.000
7:73552242:C:A	W31C	1.000
7:73552242:C:G	W31C	1.000
7:73557487:C:G	W31S	1.000
7:73557488:A:G	W31R	1.000
7:73557488:A:T	W31R	1.000
7:73557497:C:T	V28M	1.000
7:73557512:C:G	A23P	1.000
7:73557522:C:A	K19N	1.000

dbSNP variants (sampled 300 via entrez): RS1000041237 (7:73538535 C>A,T), RS1000043837 (7:73549623 G>C), RS1000115740 (7:73537091 C>G,T), RS1001055730 (7:73556576 T>C), RS1001087004 (7:73556778 C>A,G), RS1001380783 (7:73558134 G>A,C), RS1001411868 (7:73558363 A>G,T), RS1001501165 (7:73545888 G>T), RS1001611253 (7:73552416 G>C), RS1001689695 (7:73539515 G>A), RS1001782631 (7:73546164 G>A,C), RS1001838343 (7:73547427 T>C), RS1001979126 (7:73553705 A>C,G), RS1002121022 (7:73547770 T>C), RS1002349812 (7:73553550 G>A,T)

Disease associations

OMIM: gene MIM:605846 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000138_1	Triglycerides	7.000000e-22
GCST000809_10	Triglycerides	2.000000e-12
GCST000965_4	C-reactive protein levels	4.000000e-09
GCST001905_7	Hypertriglyceridemia	2.000000e-06
GCST007094_3	Diastolic blood pressure	1.000000e-09
GCST007614_46	C-reactive protein levels	3.000000e-25
GCST007615_24	C-reactive protein levels	3.000000e-19
GCST010133_5	Lamb consumption	5.000000e-09
GCST010134_3	Non-oily fish consumption	3.000000e-09
GCST010143_15	Meat-related diet	4.000000e-08
GCST010143_21	Meat-related diet	3.000000e-11
GCST010725_13	Malaria	8.000000e-06
GCST010725_74	Malaria	6.000000e-06
GCST010725_91	Malaria	7.000000e-06
GCST90002404_288	Red cell distribution width	6.000000e-10
GCST90013406_207	Liver enzyme levels (alkaline phosphatase)	2.000000e-33
GCST90020025_1106	Waist-to-hip ratio adjusted for BMI	2.000000e-08
GCST90020025_1111	Waist-to-hip ratio adjusted for BMI	2.000000e-12
GCST90020027_1393	Waist-hip index	7.000000e-13

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004458	C-reactive protein measurement
EFO:0006336	diastolic blood pressure
EFO:0008111	diet measurement
EFO:0009188	Red cell distribution width
EFO:0004533	alkaline phosphatase measurement
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4630852 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cannabidiol	decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
glycidyl methacrylate	decreases expression	1
coumarin	increases phosphorylation	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Antimycin A	decreases expression	1
Arsenic	affects methylation	1
Cadmium	increases abundance, decreases expression	1
Caffeine	affects phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Menthol	increases expression	1
Rotenone	decreases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	increases abundance, decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4615405	Binding	Binding affinity to BCL7B in human HuT78 cells nuclear and chromatin extracts at 10 uM incubated for 45 mins by mass spectrometry based chemoproteomic binding assay	Application of Atypical Acetyl-lysine Methyl Mimetics in the Development of Selective Inhibitors of the Bromodomain-Containing Protein 7 (BRD7)/Bromodomain-Containing Protein 9 (BRD9) Bromodomains. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SF02	HAP1 BCL7B (-) 1	Cancer cell line	Male
CVCL_SF03	HAP1 BCL7B (-) 2	Cancer cell line	Male
CVCL_SF04	HAP1 BCL7B (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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