BZW1
gene geneOn this page
Also known as BZAP45KIAA00055MP2
Summary
BZW1 (basic leucine zipper and W2 domains 1, HGNC:18380) is a protein-coding gene on chromosome 2q33.1, encoding eIF5-mimic protein 2 (Q7L1Q6). Translation initiation regulator which represses repeat-associated non-AUG (RAN) initiated translation probably by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function.
Enables RNA binding activity and cadherin binding activity. Involved in regulation of translational initiation. Located in cytoplasm.
Source: NCBI Gene 9689 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 41 total
- Druggable target: yes
- MANE Select transcript:
NM_001207067
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18380 |
| Approved symbol | BZW1 |
| Name | basic leucine zipper and W2 domains 1 |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BZAP45, KIAA0005, 5MP2 |
| Ensembl gene | ENSG00000082153 |
| Ensembl biotype | protein_coding |
| OMIM | 619252 |
| Entrez | 9689 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 31 protein_coding, 4 retained_intron
ENST00000359893, ENST00000409226, ENST00000409600, ENST00000410110, ENST00000419090, ENST00000447069, ENST00000450637, ENST00000452206, ENST00000452790, ENST00000460660, ENST00000463310, ENST00000464483, ENST00000491576, ENST00000861037, ENST00000861038, ENST00000861039, ENST00000861040, ENST00000861041, ENST00000861042, ENST00000861043, ENST00000861044, ENST00000861045, ENST00000861046, ENST00000937470, ENST00000937471, ENST00000937472, ENST00000937473, ENST00000937474, ENST00000937475, ENST00000937476, ENST00000946635, ENST00000946636, ENST00000946637, ENST00000946638, ENST00000946639
RefSeq mRNA: 9 — MANE Select: NM_001207067
NM_001207067, NM_001207068, NM_001207069, NM_001321688, NM_001321690, NM_001321691, NM_001321693, NM_001321694, NM_014670
CCDS: CCDS56154, CCDS56155, CCDS56156
Canonical transcript exons
ENST00000409600 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000784375 | 200815667 | 200815761 |
| ENSE00000784392 | 200817106 | 200817241 |
| ENSE00000803307 | 200821183 | 200821305 |
| ENSE00001588116 | 200819982 | 200820120 |
| ENSE00001752836 | 200816325 | 200816390 |
| ENSE00001897723 | 200811910 | 200811990 |
| ENSE00002480570 | 200815341 | 200815517 |
| ENSE00002589934 | 200822147 | 200827338 |
| ENSE00003484208 | 200818755 | 200818901 |
| ENSE00003532428 | 200818223 | 200818393 |
| ENSE00003597525 | 200813208 | 200813281 |
| ENSE00003787206 | 200817974 | 200818083 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 189.6153 / max 6337.7016, expressed in 1825 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24580 | 176.6488 | 1823 |
| 24578 | 6.5153 | 1677 |
| 24581 | 3.1055 | 1202 |
| 24582 | 1.1443 | 362 |
| 24579 | 0.8457 | 563 |
| 24583 | 0.6433 | 322 |
| 24584 | 0.3977 | 153 |
| 24585 | 0.1859 | 85 |
| 24586 | 0.1289 | 55 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| palpebral conjunctiva | UBERON:0001812 | 99.46 | gold quality |
| amniotic fluid | UBERON:0000173 | 99.41 | gold quality |
| adrenal tissue | UBERON:0018303 | 99.28 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.12 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 99.10 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.06 | gold quality |
| parietal pleura | UBERON:0002400 | 98.98 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.92 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.85 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.82 | gold quality |
| cortical plate | UBERON:0005343 | 98.82 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.81 | gold quality |
| synovial joint | UBERON:0002217 | 98.80 | gold quality |
| gingiva | UBERON:0001828 | 98.79 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.79 | gold quality |
| embryo | UBERON:0000922 | 98.76 | gold quality |
| pleura | UBERON:0000977 | 98.75 | gold quality |
| ventricular zone | UBERON:0003053 | 98.73 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.72 | gold quality |
| oral cavity | UBERON:0000167 | 98.71 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.66 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.50 | gold quality |
| visceral pleura | UBERON:0002401 | 98.44 | gold quality |
| right testis | UBERON:0004534 | 98.33 | gold quality |
| pericardium | UBERON:0002407 | 98.30 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.29 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.26 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.18 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 98.17 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.17 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 30.58 |
| E-CURD-46 | yes | 12.62 |
| E-MTAB-10042 | yes | 4.36 |
| E-CURD-112 | yes | 4.09 |
| E-MTAB-6819 | no | 2185.42 |
| E-MTAB-7052 | no | 1059.03 |
| E-MTAB-6524 | no | 341.35 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
152 targeting BZW1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 12)
- Stimulates cell cycle regulation of histone H4 gene transcription. (PMID:11524015)
- BZW1 is a novel factor, promoting the growth of MEC cells (PMID:19446954)
- Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified. (PMID:21734401)
- results reveal a surprising role for BZW1 and BZW2 in maintaining homeostatic stringency of start codon selection, and taking into account recent biochemical, genetic and structural insights into eukaryotic initiation, suggest a model for BZW1 and BZW2 function (PMID:29470543)
- Overexpression of BZW1 is an independent poor prognosis marker and its down-regulation suppresses lung adenocarcinoma metastasis. (PMID:31601833)
- Long noncoding RNA NEAT1 modifies cell proliferation, colony formation, apoptosis, migration and invasion via the miR4500/BZW1 axis in ovarian cancer. (PMID:32945505)
- LncRNA NEAT1 promotes glioma cancer progression via regulation of miR-98-5p/BZW1. (PMID:33393590)
- BZW1 promotes cell proliferation in prostate cancer by regulating TGF-beta1/Smad pathway. (PMID:33886419)
- BZW1 Facilitates Glycolysis and Promotes Tumor Growth in Pancreatic Ductal Adenocarcinoma Through Potentiating eIF2alpha Phosphorylation. (PMID:34951995)
- Activation of BZW1 by CEBPB in macrophages promotes eIF2alpha phosphorylation-mediated metabolic reprogramming and endoplasmic reticulum stress in MRL/lpr lupus-prone mice. (PMID:37828427)
- BZW1 is a prognostic and immunological biomarker in pancreatic adenocarcinoma. (PMID:38306570)
- [Overexpression of BZW1 promotes invasion and metastasis of gastric cancer cells by regulating Wnt/beta-catenin signaling and promoting epithelial-mesenchymal transition]. (PMID:38501421)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bzw1a | ENSDARG00000010481 |
| danio_rerio | bzw1b | ENSDARG00000099148 |
| mus_musculus | Bzw1 | ENSMUSG00000051223 |
| rattus_norvegicus | Bzw1 | ENSRNOG00000013977 |
| drosophila_melanogaster | kra | FBGN0250753 |
Paralogs (1): BZW2 (ENSG00000136261)
Protein
Protein identifiers
eIF5-mimic protein 2 — Q7L1Q6 (reviewed: Q7L1Q6)
Alternative names: Basic leucine zipper and W2 domain-containing protein 1, Protein Orf
All UniProt accessions (7): Q7L1Q6, C9IZ80, C9J188, C9JFN4, C9JV57, C9JWF5, H0Y503
UniProt curated annotations — full annotation on UniProt →
Function. Translation initiation regulator which represses repeat-associated non-AUG (RAN) initiated translation probably by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function. Enhances histone H4 gene transcription but does not seem to bind DNA directly.
Similarity. Belongs to the BZW family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7L1Q6-1 | 1 | yes |
| Q7L1Q6-2 | 2 | |
| Q7L1Q6-3 | 3 | |
| Q7L1Q6-4 | 4 |
RefSeq proteins (9): NP_001193996, NP_001193997, NP_001193998, NP_001308617, NP_001308619, NP_001308620, NP_001308622, NP_001308623, NP_055485 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003307 | W2_domain | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR043510 | W2_5MP1/2 | Domain |
| IPR051245 | eIF5-mimic_regulator | Family |
| IPR057397 | HEAT_5MP1_2 | Domain |
Pfam: PF02020, PF25504
UniProt features (12 total): modified residue 4, splice variant 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L1Q6-F1 | 91.23 | 0.83 |
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 (5): 1, 12, 411, 413, 368
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 247 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TAATAAT_MIR126, AAGTCCA_MIR422B_MIR422A, TTTGTAG_MIR520D, AAGCCAT_MIR135A_MIR135B, MORF_RAD21, DARWICHE_SKIN_TUMOR_PROMOTER_UP, GOBP_TRANSLATIONAL_INITIATION, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, MORF_HDAC2, MODULE_149
GO Biological Process (2): regulation of translational initiation (GO:0006446), regulation of translation (GO:0006417)
GO Molecular Function (3): RNA binding (GO:0003723), cadherin binding (GO:0045296), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| translational initiation | 1 |
| regulation of translation | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| nucleic acid binding | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1346 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BZW1 | TOMM70 | O94826 | 635 |
| BZW1 | NIF3L1 | Q9GZT8 | 554 |
| BZW1 | PSTPIP1 | O43586 | 489 |
| BZW1 | HYCC2 | Q8IXS8 | 479 |
| BZW1 | PPIL3 | Q9H2H8 | 473 |
| BZW1 | EIF5 | P55010 | 458 |
| BZW1 | LRIG3 | Q6UXM1 | 418 |
| BZW1 | HAND1 | O96004 | 400 |
| BZW1 | DNAJB1 | P25685 | 388 |
| BZW1 | TYW5 | A2RUC4 | 370 |
| BZW1 | MAP3K11 | Q16584 | 368 |
| BZW1 | HSPA1A | P08107 | 365 |
| BZW1 | KCTD18 | Q6PI47 | 360 |
| BZW1 | EIF1 | P41567 | 357 |
| BZW1 | ASZ1 | Q8WWH4 | 348 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| BZW2 | BZW1 | psi-mi:“MI:0914”(association) | 0.560 |
| GYPB | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLCO4C1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| STOM | EI24 | psi-mi:“MI:0914”(association) | 0.510 |
| ORF38 | PPT1 | psi-mi:“MI:0914”(association) | 0.500 |
| ANP32A | psi-mi:“MI:0915”(physical association) | 0.500 | |
| MYL12B | psi-mi:“MI:0914”(association) | 0.460 | |
| M | NPEPPSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| M2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY6 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| UNC93B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY6 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY6 | RAVER1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| NBAS | psi-mi:“MI:0914”(association) | 0.350 | |
| PA | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TNPO2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CLIC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (231): BZW1 (Affinity Capture-MS), BZW1 (Affinity Capture-MS), BZW1 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), PRPF31 (Affinity Capture-MS), ENPP1 (Affinity Capture-MS), SCCPDH (Affinity Capture-MS), RNF138 (Affinity Capture-MS), TMEM43 (Affinity Capture-MS), BZW1 (Affinity Capture-MS), ADPRHL2 (Co-fractionation), BZW1 (Co-fractionation), BZW1 (Co-fractionation), EIF5 (Co-fractionation), ETF1 (Co-fractionation)
ESM2 similar proteins: A0A3Q1LSX9, A2APV2, A2AT37, A2VD00, A4II09, B0KWH8, B1AZI6, B1MTK1, B2KI97, B3MS75, B3NU52, B4GW22, B4I0W6, B4JM29, B4L2J8, B4NC41, B4Q034, C0H906, C1FXW9, F4IUX6, Q09161, Q16UN6, Q1LUC1, Q1LXC9, Q29G82, Q2L4X1, Q3UYV9, Q4R6R4, Q56A27, Q5R7L4, Q5ZJZ6, Q5ZL42, Q5ZLT7, Q5ZMW3, Q6DDM4, Q6DIE2, Q6GQ80, Q6GQD0, Q6P2Z0, Q6P7P5
Diamond homologs: P47823, P56287, Q0P8J8, Q13144, Q54RF3, Q5R7L4, Q5ZLT7, Q64350, Q6P2Z0, Q6P7P5, Q7L1Q6, Q8AVM7, Q8CHW4, Q9CQC6, A3DNI8, C5A2A8, O58312, P38431, P48724, P55010, P55871, P55876, P56329, P59325, Q07205, Q09689, Q1LUC1, Q22918, Q26891, Q2L4X1, Q41969, Q4R6R4, Q54LA1, Q5R4L0, Q5ZL42, Q74M98, Q803N9, Q8TWR5, Q8U3I5, Q91VK1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1661 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:200813205:TAGG:T | acceptor_loss | 1.0000 |
| 2:200813206:A:AG | acceptor_gain | 1.0000 |
| 2:200813206:AG:A | acceptor_gain | 1.0000 |
| 2:200813207:G:A | acceptor_gain | 1.0000 |
| 2:200813207:G:GG | acceptor_gain | 1.0000 |
| 2:200813207:GGGT:G | acceptor_gain | 1.0000 |
| 2:200813279:GAG:G | donor_gain | 1.0000 |
| 2:200813280:AGGTA:A | donor_loss | 1.0000 |
| 2:200813282:GTAA:G | donor_loss | 1.0000 |
| 2:200813283:T:A | donor_loss | 1.0000 |
| 2:200815338:CAGA:C | acceptor_loss | 1.0000 |
| 2:200815339:A:AG | acceptor_gain | 1.0000 |
| 2:200815339:AGAT:A | acceptor_gain | 1.0000 |
| 2:200815340:G:GA | acceptor_gain | 1.0000 |
| 2:200815340:GA:G | acceptor_gain | 1.0000 |
| 2:200815340:GAT:G | acceptor_gain | 1.0000 |
| 2:200815340:GATG:G | acceptor_gain | 1.0000 |
| 2:200815340:GATGA:G | acceptor_gain | 1.0000 |
| 2:200815513:GCTGG:G | donor_gain | 1.0000 |
| 2:200815514:CTGG:C | donor_gain | 1.0000 |
| 2:200815515:TGG:T | donor_gain | 1.0000 |
| 2:200815515:TGGG:T | donor_loss | 1.0000 |
| 2:200815516:GG:G | donor_gain | 1.0000 |
| 2:200815516:GGG:G | donor_gain | 1.0000 |
| 2:200815517:GG:G | donor_gain | 1.0000 |
| 2:200815518:G:A | donor_loss | 1.0000 |
| 2:200815518:G:GG | donor_gain | 1.0000 |
| 2:200815519:T:G | donor_loss | 1.0000 |
| 2:200815644:ATTTT:A | acceptor_gain | 1.0000 |
| 2:200815648:T:A | acceptor_gain | 1.0000 |
AlphaMissense
2787 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:200813249:T:A | L11Q | 1.000 |
| 2:200813255:G:A | G13D | 1.000 |
| 2:200813266:A:G | K17E | 1.000 |
| 2:200813268:A:C | K17N | 1.000 |
| 2:200813268:A:T | K17N | 1.000 |
| 2:200813273:G:C | R19T | 1.000 |
| 2:200813273:G:T | R19I | 1.000 |
| 2:200813274:A:C | R19S | 1.000 |
| 2:200813274:A:T | R19S | 1.000 |
| 2:200813275:A:G | K20E | 1.000 |
| 2:200813276:A:T | K20I | 1.000 |
| 2:200813277:A:C | K20N | 1.000 |
| 2:200813277:A:T | K20N | 1.000 |
| 2:200813279:G:C | R21T | 1.000 |
| 2:200813279:G:T | R21I | 1.000 |
| 2:200813280:A:C | R21S | 1.000 |
| 2:200813280:A:T | R21S | 1.000 |
| 2:200815371:T:C | F32S | 1.000 |
| 2:200815437:T:C | L54P | 1.000 |
| 2:200815449:G:A | G58E | 1.000 |
| 2:200815506:G:A | G77D | 1.000 |
| 2:200815506:G:T | G77V | 1.000 |
| 2:200815673:G:A | G83D | 1.000 |
| 2:200815675:G:C | G84R | 1.000 |
| 2:200815676:G:A | G84D | 1.000 |
| 2:200816346:C:A | R120S | 1.000 |
| 2:200816352:A:G | K122E | 1.000 |
| 2:200816354:A:C | K122N | 1.000 |
| 2:200816354:A:T | K122N | 1.000 |
| 2:200816355:T:C | Y123H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000137662 (2:200817763 T>C), RS1000181290 (2:200811719 T>A,C), RS1000418010 (2:200821538 T>C), RS1000549560 (2:200810516 A>G), RS1000552903 (2:200827612 T>A,G), RS1000609594 (2:200819103 A>G), RS1000745490 (2:200824435 G>A), RS1000789194 (2:200821809 G>A,T), RS1001177406 (2:200814615 A>G), RS1001320098 (2:200821118 G>A,T), RS1001435417 (2:200812674 T>G), RS1001467473 (2:200824055 A>G), RS1001606875 (2:200823791 T>TTTG), RS1001799825 (2:200825036 T>A,C), RS1001880456 (2:200814874 A>C,G)
Disease associations
OMIM: gene MIM:619252 | 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): CHEMBL5724746 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.24 | Kd | 570.8 | nM | CHEMBL3752910 |
| 6.24 | ED50 | 570.8 | nM | CHEMBL3752910 |
| 5.59 | Kd | 2538 | nM | CHEMBL5653589 |
| 5.59 | ED50 | 2538 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 10 total; 2 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 | 2147966: Binding affinity to human BZW1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.5708 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147966: Binding affinity to human BZW1 incubated for 45 mins by Kinobead based pull down assay | kd | 2.5381 | uM |
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 4 |
| sodium arsenite | affects methylation, decreases expression, increases expression | 3 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| ochratoxin A | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Rosiglitazone | affects cotreatment, increases expression, decreases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Pioglitazone | affects cotreatment, increases expression, decreases reaction | 1 |
| Arsenic Trioxide | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651008 | Binding | Binding affinity to human BZW1 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 |
Cellosaurus cell lines
6 cell lines: 5 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2T6 | Abcam HEK293T BZW1 KO | Transformed cell line | Female |
| CVCL_E1SI | HAP1 BZW1 (-) 1 | Cancer cell line | Male |
| CVCL_E1SJ | HAP1 BZW1 (-) 2 | Cancer cell line | Male |
| CVCL_E1SK | HAP1 BZW1 (-) 3 | Cancer cell line | Male |
| CVCL_E1SL | HAP1 BZW1 (-) 4 | Cancer cell line | Male |
| CVCL_F1LU | HyCyte A-549 KO-hBZW1 | Cancer cell line | Male |
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.