BCL9L
geneOn this page
Also known as DLNB11B9LBcl9-2
Summary
BCL9L (BCL9 like, HGNC:23688) is a protein-coding gene on chromosome 11q23.3, encoding B-cell CLL/lymphoma 9-like protein (Q86UU0). Transcriptional regulator that acts as an activator.
Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of beta-catenin-TCF complex.
Source: NCBI Gene 283149 — RefSeq curated summary.
At a glance
- Gene–disease (curated): visceral heterotaxy (Moderate, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 314 total
- Druggable target: yes
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 2 cancer types
- MANE Select transcript:
NM_001378213
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23688 |
| Approved symbol | BCL9L |
| Name | BCL9 like |
| Location | 11q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DLNB11, B9L, Bcl9-2 |
| Ensembl gene | ENSG00000186174 |
| Ensembl biotype | protein_coding |
| OMIM | 609004 |
| Entrez | 283149 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000334801, ENST00000526143, ENST00000527266, ENST00000530293, ENST00000683865, ENST00000913860
RefSeq mRNA: 3 — MANE Select: NM_001378213
NM_001378213, NM_001378214, NM_182557
CCDS: CCDS8403, CCDS91603
Canonical transcript exons
ENST00000683865 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002156493 | 118918826 | 118918879 |
| ENSE00002175100 | 118909914 | 118910015 |
| ENSE00003473850 | 118907483 | 118907602 |
| ENSE00003540038 | 118902990 | 118903074 |
| ENSE00003640614 | 118908270 | 118908655 |
| ENSE00003722859 | 118899917 | 118900198 |
| ENSE00003726698 | 118900619 | 118902908 |
| ENSE00003742385 | 118903236 | 118903452 |
| ENSE00003752118 | 118925238 | 118925926 |
| ENSE00003922236 | 118896136 | 118899508 |
Expression profiles
Bgee: expression breadth ubiquitous, 238 present calls, max score 95.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.4848 / max 252.2367, expressed in 1787 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122650 | 24.0772 | 1773 |
| 122638 | 1.8165 | 917 |
| 122629 | 1.0341 | 499 |
| 122651 | 0.8468 | 477 |
| 206470 | 0.8365 | 427 |
| 122631 | 0.5956 | 314 |
| 122632 | 0.5856 | 299 |
| 122630 | 0.5769 | 306 |
| 122639 | 0.3961 | 169 |
| 122635 | 0.3616 | 178 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 95.57 | gold quality |
| right coronary artery | UBERON:0001625 | 95.45 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.59 | gold quality |
| right uterine tube | UBERON:0001302 | 94.21 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.77 | gold quality |
| popliteal artery | UBERON:0002250 | 93.57 | gold quality |
| tibial artery | UBERON:0007610 | 93.55 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.35 | gold quality |
| right ovary | UBERON:0002118 | 93.03 | gold quality |
| nipple | UBERON:0002030 | 93.01 | gold quality |
| cortical plate | UBERON:0005343 | 93.00 | gold quality |
| aorta | UBERON:0000947 | 92.91 | gold quality |
| kidney epithelium | UBERON:0004819 | 92.85 | silver quality |
| descending thoracic aorta | UBERON:0002345 | 92.78 | gold quality |
| body of uterus | UBERON:0009853 | 92.77 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.71 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.53 | gold quality |
| left uterine tube | UBERON:0001303 | 92.49 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.26 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.25 | gold quality |
| coronary artery | UBERON:0001621 | 92.23 | gold quality |
| gall bladder | UBERON:0002110 | 92.19 | gold quality |
| ectocervix | UBERON:0012249 | 92.19 | gold quality |
| ascending aorta | UBERON:0001496 | 92.18 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.16 | gold quality |
| left coronary artery | UBERON:0001626 | 92.10 | gold quality |
| left ovary | UBERON:0002119 | 91.98 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.88 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.69 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.57 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 14.58 |
| E-ANND-3 | no | 3.73 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2, PAX6
miRNA regulators (miRDB)
129 targeting BCL9L, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
Literature-anchored findings (GeneRIF, showing 13)
- crystallographic analysis of how beta-catenin, BCL9, BCL9-2 and Tcf4 interact (PMID:17052462)
- Pygo2 PHD is the only known PHD finger that is capable of interacting simultaneously with two functional ligands, B9L and BCL9. (PMID:20637214)
- BCL9-2 promotes early phases of intestinal tumor progression in humans and in transgenic mice. BCL9-2 increases the expression of a subset of canonical Wnt target genes but also regulates genes that are required for early stages of tumor progression. (PMID:21703997)
- Data show that beta-catenin/BCL9-Like (BCL9L)/T-cell factor 4 (TCF4) signalling directly targets the GCM1/syncytin pathway and thereby regulates the fusion of human choriocarcinoma cells. (PMID:22109522)
- BCL9-2 induces ER positive breast cancers in vivo, regulates ER expression by a novel ss-catenin independent mechanism in breast cancer cells. (PMID:25149534)
- The inhibition of the transcriptional activity of BCL9-2 by WWOX and HDAC3 constitutes a new molecular mechanism and provides new insight for a broad range of cancers. (PMID:25678599)
- we identify BCL9L as a novel regulator of TGF-beta-induced EMT in pancreatic cancer. (PMID:27713160)
- BCL9L dysfunction contributes to aneuploidy tolerance in both TP53-WT and mutant cells by reducing basal caspase-2 levels and preventing cleavage of MDM2 and BID. (PMID:28073006)
- Dual-luciferase reporter confirmed that BCL9L is the target gene of both miR-22 and miR-214. (PMID:30698996)
- BCL9/BCL9L promotes tumorigenicity through immune-dependent and independent mechanisms in triple negative breast cancer. (PMID:33767438)
- Type I collagen promotes tumor progression of integrin beta1 positive gastric cancer through a BCL9L/beta-catenin signaling pathway. (PMID:34319913)
- The interactions of Bcl9/Bcl9L with beta-catenin and Pygopus promote breast cancer growth, invasion, and metastasis. (PMID:34545187)
- Wnt/beta-Catenin Signalling and Its Cofactor BCL9L Have an Oncogenic Effect in Bladder Cancer Cells. (PMID:35628130)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bcl9l | ENSDARG00000055054 |
| mus_musculus | Bcl9l | ENSMUSG00000063382 |
| rattus_norvegicus | Bcl9l | ENSRNOG00000012420 |
Paralogs (1): BCL9 (ENSG00000116128)
Protein
Protein identifiers
B-cell CLL/lymphoma 9-like protein — Q86UU0 (reviewed: Q86UU0)
Alternative names: Protein BCL9-2
All UniProt accessions (2): A0A087WZX0, Q86UU0
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1.
Subunit / interactions. Found in a complex with CDC73; CTNNB1 and PYGO1. Interacts with CTNNB1.
Subcellular location. Nucleus.
Tissue specificity. Expressed in breast, ductal and invasive ductal carcinomas of the breast, sporadic colorectal adenomas and carcinomas (at protein level). Expressed in fetal brain. Expressed in lung, amygdala, eye, prostate, pancreatic and prostate cancers, head and neck tumors and embryonal tumor.
Domain organisation. Tne C-terminal domain is important for its transactivation activity.
Similarity. Belongs to the BCL9 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86UU0-1 | 1 | yes |
| Q86UU0-2 | 2 | |
| Q86UU0-3 | 3 | |
| Q86UU0-4 | 4 |
RefSeq proteins (3): NP_001365142, NP_001365143, NP_872363 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR015668 | Bcl-9/Bcl-9l | Family |
| IPR024670 | BCL9_beta-catenin-bd_dom | Domain |
Pfam: PF11502
UniProt features (60 total): modified residue 26, compositionally biased region 19, region of interest 5, splice variant 4, strand 2, helix 2, chain 1, cross-link 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4UP0 | X-RAY DIFFRACTION | 1.28 |
| 4UP5 | X-RAY DIFFRACTION | 1.65 |
| 2XB1 | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UU0-F1 | 42.86 | 0.02 |
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 (27): 21, 25, 36, 88, 108, 110, 116, 118, 137, 424, 514, 680, 750, 813, 915, 926, 938, 942, 947, 975 …
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-201722 | Formation of the beta-catenin:TCF transactivating complex |
| R-HSA-3769402 | Deactivation of the beta-catenin transactivating complex |
| R-HSA-162582 | Signal Transduction |
| R-HSA-195721 | Signaling by WNT |
| R-HSA-201681 | TCF dependent signaling in response to WNT |
MSigDB gene sets: 217 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, FXR_IR1_Q6, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, CMYB_01, AAGCCAT_MIR135A_MIR135B, AREB6_01, MEF2_02, USF_C, CAGCTG_AP4_Q5, SP1_Q2_01
GO Biological Process (10): transcription by RNA polymerase II (GO:0006366), positive regulation of epithelial to mesenchymal transition (GO:0010718), regulation of cell morphogenesis (GO:0022604), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), somatic stem cell population maintenance (GO:0035019), skeletal muscle cell differentiation (GO:0035914), myoblast differentiation (GO:0045445), positive regulation of transcription by RNA polymerase II (GO:0045944), canonical Wnt signaling pathway (GO:0060070), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (2): transcription coactivator activity (GO:0003713), beta-catenin binding (GO:0008013)
GO Cellular Component (4): fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), beta-catenin-TCF complex (GO:1990907)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| TCF dependent signaling in response to WNT | 2 |
| Signal Transduction | 1 |
| Signaling by WNT | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| cell differentiation | 2 |
| positive regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| epithelial to mesenchymal transition | 1 |
| regulation of epithelial to mesenchymal transition | 1 |
| positive regulation of cell differentiation | 1 |
| positive regulation of multicellular organismal process | 1 |
| cell morphogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| stem cell population maintenance | 1 |
| skeletal muscle tissue development | 1 |
| muscle structure development | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| Wnt signaling pathway | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| protein binding | 1 |
| nucleolus | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| RNA polymerase II transcription regulator complex | 1 |
Protein interactions and networks
STRING
772 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BCL9L | CTNNB1 | P35222 | 908 |
| BCL9L | HNF4A | P41235 | 896 |
| BCL9L | PYGO2 | Q9BRQ0 | 854 |
| BCL9L | PYGO1 | Q9Y3Y4 | 798 |
| BCL9L | LEF1 | Q9UJU2 | 593 |
| BCL9L | TNKS2 | Q9H2K2 | 560 |
| BCL9L | BCL9 | O00512 | 556 |
| BCL9L | TNKS | O95271 | 538 |
| BCL9L | CSNK1A1 | P48729 | 533 |
| BCL9L | CEP250 | Q9BV73 | 455 |
| BCL9L | WNT16 | Q9UBV4 | 451 |
| BCL9L | SOD3 | P08294 | 440 |
| BCL9L | AXIN1 | O15169 | 436 |
| BCL9L | CROCC | Q5TZA2 | 424 |
| BCL9L | AXIN2 | Q9Y2T1 | 422 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PYGO1 | BCL9 | psi-mi:“MI:0914”(association) | 0.700 |
| PYGO2 | BCL9 | psi-mi:“MI:0914”(association) | 0.690 |
| HSPA2 | DNAJC13 | psi-mi:“MI:0914”(association) | 0.530 |
| BCL9L | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Ctnnb1 | BCL9L | psi-mi:“MI:0915”(physical association) | 0.370 |
| BCL9L | WWOX | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL9L | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| AR | MED6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| RAVER1 | KDM6A | psi-mi:“MI:2364”(proximity) | 0.270 |
| LHX2 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| LHX4 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| LHX6 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PAX9 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SOX2 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SP7 | IGF2BP3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBR1 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TLX3 | BCL9 | psi-mi:“MI:2364”(proximity) | 0.270 |
| BRAF | BCL9L | psi-mi:“MI:2364”(proximity) | 0.270 |
| FBXW7 | BCL9L | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMAD4 | BCL9L | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (62): CTNNB1 (Affinity Capture-Western), BCL9L (Proximity Label-MS), BCL9L (Biochemical Activity), BCL9L (Affinity Capture-MS), BCL9L (Affinity Capture-MS), BCL9L (Affinity Capture-MS), BCL9L (Affinity Capture-RNA), BCL9L (Affinity Capture-MS), BCL9L (Affinity Capture-MS), BCL9L (Affinity Capture-MS), BCL9 (Affinity Capture-MS), BCL9L (Affinity Capture-MS), SSBP3 (Affinity Capture-MS), BCL9L (Affinity Capture-MS), PYGO2 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IBL7, A3RK74, A4L7N3, A5D7F6, B2RWS6, B5DE09, E1BPQ1, G3V7R4, O00512, O43524, P11420, P45481, P78364, Q09472, Q12778, Q13227, Q14686, Q15596, Q17BA4, Q61026, Q64028, Q66JJ0, Q67FY2, Q6AI39, Q6JHU9, Q6T264, Q7ZUK7, Q810W5, Q86UU0, Q8CHH5, Q8CHP6, Q8IXK0, Q8IZL2, Q921N8, Q924H2, Q92585, Q92793, Q961D9, Q96JK9, Q96RN5
Diamond homologs: O00512, Q67FY2, Q67FY3, Q86UU0, Q95KQ6, Q9D219
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 40 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 |
|---|---|---|---|
| Deactivation of the beta-catenin transactivating complex | 5 | 38.8× | 6e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of miRNA transcription | 5 | 40.4× | 5e-05 |
| somatic stem cell population maintenance | 5 | 34.4× | 8e-05 |
| osteoblast differentiation | 6 | 20.2× | 8e-05 |
| neuron differentiation | 5 | 13.9× | 2e-03 |
| chromatin remodeling | 5 | 10.1× | 5e-03 |
| positive regulation of gene expression | 6 | 6.5× | 8e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 2 cancer types — COAD, COADREAD.
Clinical variants and AI predictions
ClinVar
314 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 276 |
| Likely benign | 8 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1623 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:118899911:TCGCA:T | donor_loss | 1.0000 |
| 11:118899912:CGCA:C | donor_loss | 1.0000 |
| 11:118899913:GCACC:G | donor_loss | 1.0000 |
| 11:118899914:CA:C | donor_loss | 1.0000 |
| 11:118899915:AC:A | donor_loss | 1.0000 |
| 11:118899916:C:CT | donor_loss | 1.0000 |
| 11:118902984:GCTCA:G | donor_loss | 1.0000 |
| 11:118902985:CTCA:C | donor_loss | 1.0000 |
| 11:118902986:TCAC:T | donor_loss | 1.0000 |
| 11:118902988:A:T | donor_loss | 1.0000 |
| 11:118902989:C:A | donor_loss | 1.0000 |
| 11:118903234:A:AC | donor_gain | 1.0000 |
| 11:118903235:C:CC | donor_gain | 1.0000 |
| 11:118907479:TCACT:T | donor_loss | 1.0000 |
| 11:118907480:CACTG:C | donor_loss | 1.0000 |
| 11:118907481:A:AC | donor_gain | 1.0000 |
| 11:118907481:A:T | donor_loss | 1.0000 |
| 11:118907482:C:CA | donor_gain | 1.0000 |
| 11:118907482:CT:C | donor_gain | 1.0000 |
| 11:118907598:CACCT:C | acceptor_gain | 1.0000 |
| 11:118907599:ACCT:A | acceptor_gain | 1.0000 |
| 11:118907600:CCTC:C | acceptor_gain | 1.0000 |
| 11:118907601:CT:C | acceptor_gain | 1.0000 |
| 11:118907603:C:CC | acceptor_gain | 1.0000 |
| 11:118907608:C:CT | acceptor_gain | 1.0000 |
| 11:118907608:C:T | acceptor_gain | 1.0000 |
| 11:118907609:A:T | acceptor_gain | 1.0000 |
| 11:118907612:C:CT | acceptor_gain | 1.0000 |
| 11:118907613:A:T | acceptor_gain | 1.0000 |
| 11:118899506:TCC:T | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000049744 (11:118920252 A>G), RS1000198472 (11:118897469 T>A,G), RS1000223467 (11:118902818 G>C), RS1000374835 (11:118902500 G>A,C,T), RS1000398096 (11:118908152 T>C), RS1000506419 (11:118917513 C>T), RS1000594167 (11:118924807 G>C), RS1000607410 (11:118911250 G>C), RS1000670131 (11:118897736 G>A,C,T), RS1000771263 (11:118896143 T>C,G), RS1000825429 (11:118899875 C>T), RS1000914117 (11:118912475 T>C), RS1000993255 (11:118911516 A>G), RS1001023248 (11:118918476 G>A), RS1001023461 (11:118925272 G>A)
Disease associations
OMIM: gene MIM:609004 | disease phenotypes: MIM:615378
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| visceral heterotaxy | Moderate | Autosomal recessive |
Mondo (2): atrial fibrillation, familial, 14 (MONDO:0014156), visceral heterotaxy (MONDO:0018677)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009597_76 | Multiple sclerosis | 9.000000e-11 |
| GCST009798_24 | Asthma | 4.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291978 (PROTEIN COMPLEX)
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 |
|---|---|---|---|---|
| 5.28 | Ki | 5200 | nM | CHEMBL5274911 |
PubChem BioAssay actives
1 with measured affinity, of 1 total; 1 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 |
|---|---|---|---|---|
| [3-cyclohexyl-4-[(3R)-pyrrolidin-3-yl]oxyphenyl]-[4-(3-fluoro-5-piperazin-1-ylbenzoyl)piperazin-1-yl]methanone | 1924310: Binding affinity to beta catenin (unknown origin) to BCL assessed as inhibition constant by alpha screening assay | ki | 5.2000 | uM |
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression, affects cotreatment | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects response to substance, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Arsenic | increases abundance, affects methylation, affects cotreatment, decreases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| bufotalin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| afimoxifene | decreases expression, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | decreases phosphorylation | 1 |
| pentanal | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| mono(carboxy-isooctyl)phthalate | affects 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 |
|---|---|---|---|
| CHEMBL5227394 | Binding | Binding affinity to beta catenin (unknown origin) to BCL assessed as inhibition constant by alpha screening assay | Small-Molecule Inhibitors Targeting the Canonical WNT Signaling Pathway for the Treatment of Cancer. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9A2 | Ubigene HEK293 BCL9L KO | Transformed cell line | Female |
Clinical trials (associated diseases)
3 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01591928 | Not specified | COMPLETED | Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study |
| NCT01929967 | Not specified | COMPLETED | Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data |
| NCT02432079 | Not specified | RECRUITING | Molecular Genetics of Heterotaxy and Related Congenital Heart Defects |
Related Atlas pages
- Associated diseases: visceral heterotaxy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial fibrillation, familial, 14, visceral heterotaxy