TBL3
gene geneOn this page
Also known as SAZDUTP13
Summary
TBL3 (transducin beta like 3, HGNC:11587) is a protein-coding gene on chromosome 16p13.3, encoding Transducin beta-like protein 3 (Q12788). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. It is a common-essential gene (DepMap: required in 97.8% of cancer cell lines).
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet.
Source: NCBI Gene 10607 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 233 total — 1 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 97.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_006453
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11587 |
| Approved symbol | TBL3 |
| Name | transducin beta like 3 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SAZD, UTP13 |
| Ensembl gene | ENSG00000183751 |
| Ensembl biotype | protein_coding |
| OMIM | 605915 |
| Entrez | 10607 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 11 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000332704, ENST00000561907, ENST00000564171, ENST00000567615, ENST00000568546, ENST00000569628, ENST00000569792, ENST00000861852, ENST00000861853, ENST00000939202, ENST00000939203, ENST00000939204, ENST00000939205, ENST00000960652, ENST00000960653, ENST00000960654
RefSeq mRNA: 1 — MANE Select: NM_006453
NM_006453
CCDS: CCDS10453
Canonical transcript exons
ENST00000568546 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001409862 | 1974197 | 1974292 |
| ENSE00001413730 | 1972053 | 1972205 |
| ENSE00001416451 | 1974056 | 1974107 |
| ENSE00002606279 | 1978552 | 1982929 |
| ENSE00003467568 | 1975808 | 1975949 |
| ENSE00003500273 | 1977356 | 1977426 |
| ENSE00003514088 | 1977514 | 1977670 |
| ENSE00003523346 | 1975345 | 1975438 |
| ENSE00003538180 | 1975529 | 1975710 |
| ENSE00003539608 | 1977054 | 1977284 |
| ENSE00003570053 | 1976211 | 1976314 |
| ENSE00003576766 | 1976814 | 1976961 |
| ENSE00003591757 | 1977958 | 1978061 |
| ENSE00003596870 | 1975187 | 1975262 |
| ENSE00003600841 | 1978313 | 1978471 |
| ENSE00003602268 | 1978149 | 1978220 |
| ENSE00003627325 | 1974928 | 1975098 |
| ENSE00003637684 | 1976056 | 1976114 |
| ENSE00003661279 | 1974538 | 1974679 |
| ENSE00003664126 | 1974763 | 1974847 |
| ENSE00003680343 | 1977742 | 1977800 |
| ENSE00003694145 | 1974376 | 1974423 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 94.10.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7314 / max 284.4786, expressed in 1804 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 152148 | 26.7314 | 1804 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 94.10 | gold quality |
| left testis | UBERON:0004533 | 93.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.34 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.46 | gold quality |
| apex of heart | UBERON:0002098 | 92.16 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.13 | gold quality |
| skin of leg | UBERON:0001511 | 91.98 | gold quality |
| muscle of leg | UBERON:0001383 | 91.24 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.24 | gold quality |
| testis | UBERON:0000473 | 91.12 | gold quality |
| ectocervix | UBERON:0012249 | 90.57 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.33 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.30 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 89.59 | gold quality |
| body of stomach | UBERON:0001161 | 89.53 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.50 | gold quality |
| body of uterus | UBERON:0009853 | 89.49 | gold quality |
| right ovary | UBERON:0002118 | 89.39 | gold quality |
| esophagus | UBERON:0001043 | 89.37 | gold quality |
| left uterine tube | UBERON:0001303 | 89.35 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.23 | gold quality |
| granulocyte | CL:0000094 | 89.07 | gold quality |
| lower esophagus | UBERON:0013473 | 89.03 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 89.02 | gold quality |
| body of pancreas | UBERON:0001150 | 88.99 | gold quality |
| minor salivary gland | UBERON:0001830 | 88.97 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.96 | gold quality |
| zone of skin | UBERON:0000014 | 88.92 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.81 | gold quality |
| left coronary artery | UBERON:0001626 | 88.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.8% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbl3 | ENSDARG00000052344 |
| mus_musculus | Tbl3 | ENSMUSG00000040688 |
| rattus_norvegicus | Tbl3 | ENSRNOG00000013429 |
| drosophila_melanogaster | CG1671 | FBGN0033454 |
| caenorhabditis_elegans | WBGENE00013143 |
Paralogs (1): GNB1L (ENSG00000185838)
Protein
Protein identifiers
Transducin beta-like protein 3 — Q12788 (reviewed: Q12788)
Alternative names: WD repeat-containing protein SAZD
All UniProt accessions (3): Q12788, H3BN88, J3KNP2
UniProt curated annotations — full annotation on UniProt →
Function. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.
Subcellular location. Nucleus. Nucleolus.
RefSeq proteins (1): NP_006444* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR011044 | Quino_amine_DH_bsu | Homologous_superfamily |
| IPR013934 | Utp13_C | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF00400, PF08625
UniProt features (25 total): repeat 13, sequence conflict 4, sequence variant 3, modified residue 2, initiator methionine 1, chain 1, cross-link 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q12788-F1 | 84.48 | 0.32 |
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 (3): 2, 257, 407
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 151 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, SHIPP_DLBCL_CURED_VS_FATAL_DN, MODULE_70, SCHUHMACHER_MYC_TARGETS_UP, AMIT_EGF_RESPONSE_120_HELA, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, MODULE_48, MODULE_95, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, BERENJENO_TRANSFORMED_BY_RHOA_UP, REACTOME_METABOLISM_OF_RNA, GOCC_90S_PRERIBOSOME
GO Biological Process (4): endonucleolytic cleavage to generate mature 5’-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472), endonucleolytic cleavage in 5’-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480), ribosomal small subunit biogenesis (GO:0042274), rRNA processing (GO:0006364)
GO Molecular Function (3): RNA binding (GO:0003723), U3 snoRNA binding (GO:0034511), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), 90S preribosome (GO:0030686), small-subunit processome (GO:0032040), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 2 |
| endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 2 |
| ribosome biogenesis | 2 |
| nuclear lumen | 2 |
| preribosome | 2 |
| t-UTP complex | 2 |
| rRNA 5’-end processing | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| snoRNA binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nucleolus | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2553 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBL3 | UTP18 | Q9Y5J1 | 986 |
| TBL3 | UTP6 | Q9NYH9 | 981 |
| TBL3 | PWP2 | Q15269 | 949 |
| TBL3 | WDR36 | Q8NI36 | 934 |
| TBL3 | WDR3 | Q9UNX4 | 815 |
| TBL3 | NOP58 | Q9Y2X3 | 748 |
| TBL3 | HEATR1 | Q9H583 | 732 |
| TBL3 | PWP1 | Q13610 | 720 |
| TBL3 | WDR43 | Q15061 | 715 |
| TBL3 | CUL4B | Q13620 | 708 |
| TBL3 | NOP14 | P78316 | 698 |
| TBL3 | NOP56 | O00567 | 694 |
| TBL3 | NOL6 | Q9H6R4 | 677 |
| TBL3 | UTP14A | Q9BVJ6 | 668 |
| TBL3 | DDB1 | Q16531 | 664 |
IntAct
120 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| APPBP2 | TBL3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TBL3 | APPBP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| RPS14 | CCZ1B | psi-mi:“MI:0914”(association) | 0.640 |
| PWP2 | FBL | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| HSD3B2 | NARS1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC4 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| MPHOSPH6 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| FAIM | WDR47 | psi-mi:“MI:0914”(association) | 0.500 |
| TBL3 | NUDC | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBL3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| SFN | TBL3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ruvbl1 | AAR2 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| Rrbp1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| NOP56 | C12orf43 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (240): TBL3 (Two-hybrid), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Affinity Capture-MS), TBL3 (Two-hybrid), TBL3 (Two-hybrid), TBL3 (Affinity Capture-MS), AATF (Co-fractionation)
ESM2 similar proteins: A4FV98, A5PK51, A6NDG6, E1BE10, O00587, O35595, O95294, P60487, Q12788, Q17QS4, Q1JPJ0, Q2T9S4, Q2TBI8, Q32NY4, Q3T063, Q3ZBF9, Q501J2, Q5E9V4, Q5F4B1, Q5IS64, Q5SUV1, Q5T9C9, Q6AYG0, Q6AYR8, Q6XQN1, Q6XQN6, Q6ZMM2, Q80US4, Q8BNV1, Q8BZG5, Q8CC86, Q8IZ69, Q8N9H8, Q8NE01, Q8R2H9, Q8TCT1, Q8VCA8, Q8VD52, Q969S8, Q96AZ1
Diamond homologs: A1C7E4, A1CBP8, A1DDL6, A1DHW6, A2QCU8, A2R3Z3, A4RJV3, A6ZQL5, A6ZZZ8, A7ETB3, A7THX0, A7TNS8, A8PTE4, A8Q2R5, B0XTS1, B6GZA1, B6Q4Z5, B8M7Q5, B8NGT5, C5FP68, D1ZEB4, D4AM37, D4D8P3, O42937, P0CS44, P0CS45, P25387, P36130, P47025, Q01277, Q0CJD8, Q0CY32, Q0U2T3, Q12788, Q1DIW7, Q2H139, Q2U5Z8, Q2UFN8, Q4P8R5, Q4V837
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TBL3 | “form complex” | “UTP-B complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 145 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 |
|---|---|---|---|
| Nuclear RNA decay | 7 | 22.7× | 5e-06 |
| rRNA modification in the nucleus and cytosol | 8 | 15.8× | 6e-06 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 19 | 12.3× | 3e-13 |
| Nonsense-Mediated Decay (NMD) | 5 | 12.3× | 3e-03 |
| rRNA processing in the nucleus and cytosol | 7 | 11.8× | 3e-04 |
| SARS-CoV-1-host interactions | 6 | 11.1× | 1e-03 |
| rRNA processing | 7 | 10.8× | 3e-04 |
| Influenza Infection | 5 | 9.2× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 12 | 21.7× | 1e-10 |
| ribosomal large subunit biogenesis | 6 | 21.1× | 8e-05 |
| rRNA processing | 14 | 15.7× | 1e-10 |
| RNA processing | 8 | 13.9× | 3e-05 |
| cytoplasmic translation | 7 | 10.3× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
233 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 183 |
| Likely benign | 13 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2498682 | GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 | Pathogenic |
SpliceAI
3801 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1972204:AAGT:A | donor_loss | 1.0000 |
| 16:1972205:AGTG:A | donor_loss | 1.0000 |
| 16:1972206:G:GG | donor_gain | 1.0000 |
| 16:1974050:TTCCA:T | acceptor_loss | 1.0000 |
| 16:1974051:TCCA:T | acceptor_loss | 1.0000 |
| 16:1974052:CCA:C | acceptor_loss | 1.0000 |
| 16:1974053:CAGC:C | acceptor_loss | 1.0000 |
| 16:1974054:A:AG | acceptor_gain | 1.0000 |
| 16:1974054:A:C | acceptor_loss | 1.0000 |
| 16:1974055:G:A | acceptor_loss | 1.0000 |
| 16:1974055:G:GT | acceptor_gain | 1.0000 |
| 16:1974055:GC:G | acceptor_gain | 1.0000 |
| 16:1974055:GCT:G | acceptor_gain | 1.0000 |
| 16:1974055:GCTA:G | acceptor_gain | 1.0000 |
| 16:1974055:GCTAT:G | acceptor_gain | 1.0000 |
| 16:1974104:ACAG:A | donor_loss | 1.0000 |
| 16:1974105:CAGGT:C | donor_loss | 1.0000 |
| 16:1974108:G:T | donor_loss | 1.0000 |
| 16:1974109:T:G | donor_loss | 1.0000 |
| 16:1974193:CCA:C | acceptor_loss | 1.0000 |
| 16:1974194:CA:C | acceptor_loss | 1.0000 |
| 16:1974195:A:AG | acceptor_gain | 1.0000 |
| 16:1974195:AGCT:A | acceptor_gain | 1.0000 |
| 16:1974195:AGCTG:A | acceptor_gain | 1.0000 |
| 16:1974196:G:GC | acceptor_gain | 1.0000 |
| 16:1974196:GC:G | acceptor_gain | 1.0000 |
| 16:1974196:GCT:G | acceptor_gain | 1.0000 |
| 16:1974196:GCTG:G | acceptor_gain | 1.0000 |
| 16:1974196:GCTGG:G | acceptor_gain | 1.0000 |
| 16:1974198:T:A | acceptor_gain | 1.0000 |
AlphaMissense
5213 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:1976103:A:C | S393R | 0.999 |
| 16:1976105:C:A | S393R | 0.999 |
| 16:1976105:C:G | S393R | 0.999 |
| 16:1977097:C:A | A495D | 0.997 |
| 16:1977105:T:C | S498P | 0.997 |
| 16:1977255:T:A | W548R | 0.997 |
| 16:1977255:T:C | W548R | 0.997 |
| 16:1977539:T:A | W590R | 0.997 |
| 16:1977539:T:C | W590R | 0.997 |
| 16:1975097:A:C | S212R | 0.996 |
| 16:1975187:C:A | S212R | 0.996 |
| 16:1975187:C:G | S212R | 0.996 |
| 16:1976842:A:C | S441R | 0.996 |
| 16:1976844:C:A | S441R | 0.996 |
| 16:1976844:C:G | S441R | 0.996 |
| 16:1977121:C:A | A503D | 0.996 |
| 16:1977198:T:C | F529L | 0.996 |
| 16:1977199:T:C | F529S | 0.996 |
| 16:1977200:C:A | F529L | 0.996 |
| 16:1977200:C:G | F529L | 0.996 |
| 16:1977223:C:A | A537D | 0.995 |
| 16:1977100:C:A | T496K | 0.994 |
| 16:1977103:G:A | G497D | 0.994 |
| 16:1977111:G:C | D500H | 0.994 |
| 16:1977186:T:A | W525R | 0.994 |
| 16:1977186:T:C | W525R | 0.994 |
| 16:1977665:T:A | W632R | 0.994 |
| 16:1977665:T:C | W632R | 0.994 |
| 16:1978339:T:A | W721R | 0.994 |
| 16:1978339:T:C | W721R | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000316832 (16:1970698 G>A,C), RS1000429083 (16:1975255 T>C), RS1000521284 (16:1982785 C>T), RS1000621875 (16:1971176 A>G), RS1000667225 (16:1970909 T>G), RS1001300102 (16:1973254 C>A), RS1001437970 (16:1982394 G>A,C), RS1002240340 (16:1978958 C>G,T), RS1002264008 (16:1972336 G>A,C), RS1002507014 (16:1971243 T>C), RS1002509390 (16:1982895 G>A), RS1002701556 (16:1972125 G>A,T), RS1002841948 (16:1979724 T>G), RS1003101357 (16:1972232 G>A,C,T), RS1003527786 (16:1973429 G>A)
Disease associations
OMIM: gene MIM:605915 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067168 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.50 | Kd | 3142 | nM | CHEMBL3752910 |
| 5.33 | ED50 | 4700 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149948: Binding affinity to human TBL3 incubated for 45 mins by Kinobead based pull down assay | kd | 3.1416 | uM |
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, affects expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol S | affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Clozapine | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cyclosporine | increases 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 |
|---|---|---|---|
| CHEMBL5652990 | Binding | Binding affinity to human TBL3 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.