BCL6B
gene geneOn this page
Also known as ZBTB28BAZF
Summary
BCL6B (BCL6B transcription repressor, HGNC:1002) is a protein-coding gene on chromosome 17p13.1, encoding B-cell CLL/lymphoma 6 member B protein (Q8N143). Acts as a sequence-specific transcriptional repressor in association with BCL6.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including regulation of gene expression; regulation of inflammatory response; and type 2 immune response. Predicted to be located in nucleus. Predicted to be active in nucleoplasm.
Source: NCBI Gene 255877 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 29 total
- Druggable target: yes
- MANE Select transcript:
NM_181844
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1002 |
| Approved symbol | BCL6B |
| Name | BCL6B transcription repressor |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZBTB28, BAZF |
| Ensembl gene | ENSG00000161940 |
| Ensembl biotype | protein_coding |
| OMIM | 608992 |
| Entrez | 255877 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000293805, ENST00000537931, ENST00000571729, ENST00000572216, ENST00000573503, ENST00000576705, ENST00000896964, ENST00000896967
RefSeq mRNA: 1 — MANE Select: NM_181844
NM_181844
CCDS: CCDS42248
Canonical transcript exons
ENST00000293805 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001061539 | 7025076 | 7025200 |
| ENSE00001061543 | 7026457 | 7026621 |
| ENSE00001203858 | 7024401 | 7024763 |
| ENSE00001286545 | 7027503 | 7029644 |
| ENSE00002337178 | 7026950 | 7027087 |
| ENSE00002429137 | 7026705 | 7026835 |
| ENSE00002635454 | 7023050 | 7023099 |
| ENSE00003675961 | 7023660 | 7023850 |
| ENSE00003789784 | 7024083 | 7024304 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 88.30.
FANTOM5 (CAGE): breadth broad, TPM avg 2.6894 / max 81.1628, expressed in 353 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159099 | 2.4867 | 328 |
| 159100 | 0.2027 | 136 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 88.30 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 87.84 | gold quality |
| upper lobe of lung | UBERON:0008948 | 87.49 | gold quality |
| apex of heart | UBERON:0002098 | 87.21 | gold quality |
| right lung | UBERON:0002167 | 85.87 | gold quality |
| omental fat pad | UBERON:0010414 | 85.63 | gold quality |
| peritoneum | UBERON:0002358 | 85.59 | gold quality |
| kidney epithelium | UBERON:0004819 | 85.47 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 85.24 | gold quality |
| lung | UBERON:0002048 | 84.86 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.64 | gold quality |
| gall bladder | UBERON:0002110 | 84.07 | gold quality |
| pancreatic ductal cell | CL:0002079 | 84.04 | silver quality |
| adipose tissue | UBERON:0001013 | 82.65 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 82.49 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 82.25 | gold quality |
| heart left ventricle | UBERON:0002084 | 81.94 | gold quality |
| cardiac ventricle | UBERON:0002082 | 81.79 | gold quality |
| lower lobe of lung | UBERON:0008949 | 81.20 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 80.19 | gold quality |
| thyroid gland | UBERON:0002046 | 79.78 | gold quality |
| vena cava | UBERON:0004087 | 79.70 | silver quality |
| heart | UBERON:0000948 | 79.58 | gold quality |
| spleen | UBERON:0002106 | 79.43 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 79.35 | gold quality |
| tibialis anterior | UBERON:0001385 | 79.27 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.04 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 79.04 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 78.79 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 78.53 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.72 |
| E-MTAB-8271 | no | 263.40 |
| E-MTAB-6678 | no | 2.43 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| CD8A | |
| GDNF | |
| IL2 | |
| IL4 | Activation |
miRNA regulators (miRDB)
99 targeting BCL6B, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
Literature-anchored findings (GeneRIF, showing 15)
- BCL6B plays a pivotal role as a potential tumour suppressor in GC. Detection of methylated BCL6B may serve as an independent biomarker for the prognosis of GC. (PMID:21917650)
- BCL6B methylation may serve as a novel potential non-invasive plasma biomarker for the detection of gastric cancer (PMID:24191714)
- Patients with three or more methylated CpG sites in the BCL6B promoter were significantly associated with poor survival. (PMID:25008234)
- BCL6B functions as a tumor suppressor that inhibits HCC metastases in vitro and in vivo. (PMID:25218345)
- Epigenetic silencing of BCL6B inactivates p53 signaling and causes human hepatocellular carcinoma cells to become resistant to 5-FU. (PMID:25909168)
- BCL6B plays a pivotal role as a prognostic biomarker for HCC. (PMID:25970780)
- BCL6B suppressed the proliferation and migration of colorectal carcinoma cells cells indirectly, via inhibition of PI3K. (PMID:29393377)
- Tumor suppressive BTB/POZ zinc-finger protein ZBTB28 inhibits oncogenic BCL6/ZBTB27 signaling to maintain p53 transcription in multiple carcinogenesis. (PMID:31754389)
- BTB/POZ zinc finger protein ZBTB16 inhibits breast cancer proliferation and metastasis through upregulating ZBTB28 and antagonizing BCL6/ZBTB27. (PMID:32517789)
- ZBTB28 induces autophagy by regulation of FIP200 and Bcl-XL facilitating cervical cancer cell apoptosis. (PMID:33931087)
- BCL6B hypermethylation predicts metastasis and poor prognosis in early-stage hepatocellular carcinoma after thermal ablation. (PMID:34269294)
- ZBTB28 inhibits breast cancer by activating IFNAR and dual blocking CD24 and CD47 to enhance macrophages phagocytosis. (PMID:35048182)
- CircTFF1 Promotes Proliferation, Migration and Invasion of Lung Cancer Cells by Facilitating Methylation of BCL6B Promoter via miR-29c-3p/DNMT3A Axis. (PMID:36376550)
- BCL6B Contributes to Ocular Vascular Diseases via Notch Signal Silencing. (PMID:37078291)
- BCL6B-dependent suppression of ETV2 hampers endothelial cell differentiation. (PMID:39075623)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bcl6b | ENSDARG00000069335 |
| mus_musculus | Bcl6b | ENSMUSG00000000317 |
| rattus_norvegicus | Bcl6b | ENSRNOG00000059956 |
Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), ZBTB46 (ENSG00000130584), PRDM12 (ENSG00000130711), ZNF280D (ENSG00000137871), NACC2 (ENSG00000148411), FEZF2 (ENSG00000153266), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZBTB21 (ENSG00000173276), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB14 (ENSG00000198081), ZBTB12 (ENSG00000204366), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)
Protein
Protein identifiers
B-cell CLL/lymphoma 6 member B protein — Q8N143 (reviewed: Q8N143)
Alternative names: Bcl6-associated zinc finger protein, Zinc finger protein 62
All UniProt accessions (4): Q8N143, H0YGW0, I3L304, I3L396
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a sequence-specific transcriptional repressor in association with BCL6. May function in a narrow stage or be related to some events in the early B-cell development.
Subunit / interactions. Associates with BCL6 through the BTB domain.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitously expressed with higher expression found in heart and placenta.
RefSeq proteins (1): NP_862827* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050457 | ZnFinger_BTB_dom_contain | Family |
Pfam: PF00096, PF00651
UniProt features (14 total): zinc finger region 5, compositionally biased region 3, sequence conflict 2, region of interest 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N143-F1 | 55.79 | 0.03 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 123 (showing top):
CREL_01, GOBP_INFLAMMATORY_RESPONSE, SP3_Q3, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, SP1_Q2_01, LA_MEN1_TARGETS, SREBP1_02, CCANNAGRKGGC_UNKNOWN, GROSS_HYPOXIA_VIA_ELK3_UP, GOBP_CYTOKINE_PRODUCTION, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GGGNNTTTCC_NFKB_Q6_01, GALINDO_IMMUNE_RESPONSE_TO_ENTEROTOXIN
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682), type 2 immune response (GO:0042092), regulation of cell population proliferation (GO:0042127), regulation of cell differentiation (GO:0045595), regulation of inflammatory response (GO:0050727)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of cellular process | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| cytokine production | 1 |
| regulation of gene expression | 1 |
| regulation of multicellular organismal process | 1 |
| immune system process | 1 |
| regulation of biological process | 1 |
| immune response | 1 |
| cell population proliferation | 1 |
| cell differentiation | 1 |
| regulation of developmental process | 1 |
| inflammatory response | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| transcription cis-regulatory region binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
986 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BCL6B | BCL6 | P41182 | 848 |
| BCL6B | ETV5 | P41161 | 712 |
| BCL6B | STRA8 | Q7Z7C7 | 680 |
| BCL6B | SOHLH1 | Q5JUK2 | 641 |
| BCL6B | GFRA1 | P56159 | 635 |
| BCL6B | NANOS2 | P60321 | 618 |
| BCL6B | LHX1 | P48742 | 616 |
| BCL6B | ID4 | P47928 | 559 |
| BCL6B | ACTL6B | O94805 | 546 |
| BCL6B | RBPJ | Q06330 | 544 |
| BCL6B | GDNF | P39905 | 542 |
| BCL6B | ZBTB16 | Q05516 | 511 |
| BCL6B | SOHLH2 | Q9NX45 | 510 |
| BCL6B | ARID1B | Q8NFD5 | 503 |
| BCL6B | BCL11B | Q9C0K0 | 502 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BCL6B | SULT4A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL6B | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.370 |
| BCL6B | TUBA3C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (38): BCL6B (Two-hybrid), BCL6B (Two-hybrid), BCL6B (Two-hybrid), BCL6B (Two-hybrid), BCL6B (Two-hybrid), BCL6B (Two-hybrid), BCL6B (Two-hybrid), BCL6B (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-5 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), SULT4A1 (Affinity Capture-MS)
ESM2 similar proteins: A0JNJ4, A2APT9, A6NEL2, A6NP61, B1ASB6, B1WBS3, B2RXF5, F6WEQ6, O15015, O43918, O88282, O88286, O95785, P98168, P98169, Q2M3G4, Q2MHN3, Q2QGD7, Q3U1J1, Q3U381, Q497V6, Q5SW24, Q5SXM2, Q6YND2, Q6ZMQ8, Q6ZMY3, Q7TN08, Q7TSX9, Q80SU3, Q80YE4, Q811H0, Q8BG26, Q8BZW2, Q8C8V1, Q8IX07, Q8IY92, Q8N143, Q8N1G0, Q8NC74, Q8TBE0
Diamond homologs: A0A0A6YY25, B2RXH4, E0CZ16, E1B932, E7F6F9, F1LZ52, F1LZF0, F1MBP6, O88282, O93567, O95198, P10074, P17789, P42282, P42283, P42284, Q01295, Q1H9T6, Q24174, Q24206, Q3B7M1, Q52KG4, Q53G59, Q53HC5, Q5R633, Q5REP9, Q5U374, Q66HD2, Q6NRH0, Q7KQZ4, Q7KRI2, Q867Z4, Q86B87, Q8BGY4, Q8BZM0, Q8CA72, Q8IN81, Q8JZP3, Q8K0L9, Q8N143
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1359 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:7023848:CAGG:C | donor_loss | 1.0000 |
| 17:7023849:AG:A | donor_loss | 1.0000 |
| 17:7023850:GGTTC:G | donor_loss | 1.0000 |
| 17:7023851:GTTCG:G | donor_loss | 1.0000 |
| 17:7024081:A:AG | acceptor_gain | 1.0000 |
| 17:7024082:G:GG | acceptor_gain | 1.0000 |
| 17:7024300:GCCAG:G | donor_gain | 1.0000 |
| 17:7024302:CAGG:C | donor_loss | 1.0000 |
| 17:7024304:GGTGA:G | donor_loss | 1.0000 |
| 17:7024305:G:GG | donor_gain | 1.0000 |
| 17:7024305:GT:G | donor_loss | 1.0000 |
| 17:7024306:T:G | donor_loss | 1.0000 |
| 17:7025074:A:AG | acceptor_gain | 1.0000 |
| 17:7025075:G:GG | acceptor_gain | 1.0000 |
| 17:7025199:GG:G | donor_gain | 1.0000 |
| 17:7025200:GG:G | donor_gain | 1.0000 |
| 17:7025201:G:GG | donor_gain | 1.0000 |
| 17:7026456:GGAA:G | acceptor_gain | 1.0000 |
| 17:7026696:T:TA | acceptor_gain | 1.0000 |
| 17:7026701:CCA:C | acceptor_loss | 1.0000 |
| 17:7026703:A:AG | acceptor_gain | 1.0000 |
| 17:7026703:AG:A | acceptor_gain | 1.0000 |
| 17:7026703:AGG:A | acceptor_gain | 1.0000 |
| 17:7026703:AGGG:A | acceptor_gain | 1.0000 |
| 17:7026704:G:GT | acceptor_gain | 1.0000 |
| 17:7026704:GG:G | acceptor_gain | 1.0000 |
| 17:7026704:GGG:G | acceptor_gain | 1.0000 |
| 17:7026704:GGGG:G | acceptor_gain | 1.0000 |
| 17:7026704:GGGGA:G | acceptor_gain | 1.0000 |
| 17:7026833:CAGGT:C | donor_loss | 1.0000 |
AlphaMissense
3084 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:7026576:T:C | F337L | 1.000 |
| 17:7026578:C:A | F337L | 1.000 |
| 17:7026578:C:G | F337L | 1.000 |
| 17:7026722:T:C | C358R | 1.000 |
| 17:7026731:T:C | C361R | 1.000 |
| 17:7026732:G:A | C361Y | 1.000 |
| 17:7026743:T:C | F365L | 1.000 |
| 17:7026744:T:C | F365S | 1.000 |
| 17:7026745:T:A | F365L | 1.000 |
| 17:7026745:T:G | F365L | 1.000 |
| 17:7026806:T:C | C386R | 1.000 |
| 17:7026827:T:C | F393L | 1.000 |
| 17:7026829:T:A | F393L | 1.000 |
| 17:7026829:T:G | F393L | 1.000 |
| 17:7027025:T:C | F421L | 1.000 |
| 17:7027027:C:A | F421L | 1.000 |
| 17:7027027:C:G | F421L | 1.000 |
| 17:7026555:T:C | C330R | 0.999 |
| 17:7026577:T:C | F337S | 0.999 |
| 17:7026603:C:G | H346D | 0.999 |
| 17:7026605:T:A | H346Q | 0.999 |
| 17:7026605:T:G | H346Q | 0.999 |
| 17:7026723:G:A | C358Y | 0.999 |
| 17:7026724:C:G | C358W | 0.999 |
| 17:7026731:T:A | C361S | 0.999 |
| 17:7026732:G:C | C361S | 0.999 |
| 17:7026733:C:G | C361W | 0.999 |
| 17:7026762:T:C | L371P | 0.999 |
| 17:7026770:C:A | H374N | 0.999 |
| 17:7026770:C:G | H374D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000145965 (17:7024003 C>T), RS1000880100 (17:7028267 C>A), RS1000944195 (17:7022245 G>A,T), RS1000978265 (17:7022055 T>G), RS1001311702 (17:7023242 C>T), RS1001448415 (17:7029198 G>C,T), RS1001610278 (17:7030142 A>C,G), RS1002492888 (17:7029778 T>C), RS1002547570 (17:7025850 A>C), RS1002845184 (17:7024145 C>T), RS1002947908 (17:7024997 G>A), RS1002980522 (17:7024428 C>A,G,T), RS1002997655 (17:7026110 C>CGAGGTT), RS1003590744 (17:7026024 C>T), RS1004004427 (17:7024539 C>A,G,T)
Disease associations
OMIM: gene MIM:608992 | 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 |
|---|---|---|
| GCST008839_85 | Height | 9.000000e-18 |
| GCST90002401_579 | Platelet distribution width | 6.000000e-13 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291528 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.43 | Kd | 3683 | nM | CHEMBL4755229 |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| sodium arsenite | increases expression | 1 |
| avobenzone | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Niclosamide | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Cyclosporine | increases methylation | 1 |
| Cadmium Chloride | increases abundance, decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5226232 | Binding | Binding affinity to BAZF (unknown origin) assessed as fold change | Discovery of OICR12694: A Novel, Potent, Selective, and Orally Bioavailable BCL6 BTB Inhibitor. — ACS Med Chem Lett |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XV63 | HEK293 eGFP-BCL6B | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.