BROX
gene geneOn this page
Also known as FLJ32421
Summary
BROX (BRO1 domain and CAAX motif containing, HGNC:26512) is a protein-coding gene on chromosome 1q41, encoding BRO1 domain-containing protein BROX (Q5VW32). Nuclear envelope-associated factor that is involved in the nuclear envelope ruptures during interphase (NERDI) repair, where it is locally recruited by CHMP5 and reduces cytoskeletal stress through its action on SYN2 to help reseal the ruptured membrane.
Involved in mitotic nuclear membrane reassembly. Located in nuclear envelope.
Source: NCBI Gene 148362 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 56 total
- Druggable target: yes
- MANE Select transcript:
NM_144695
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26512 |
| Approved symbol | BROX |
| Name | BRO1 domain and CAAX motif containing |
| Location | 1q41 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32421 |
| Ensembl gene | ENSG00000162819 |
| Ensembl biotype | protein_coding |
| Entrez | 148362 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 21 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000340934, ENST00000426638, ENST00000469236, ENST00000473962, ENST00000489191, ENST00000496267, ENST00000537020, ENST00000539697, ENST00000612948, ENST00000888412, ENST00000888413, ENST00000916810, ENST00000916814, ENST00000916816, ENST00000916817, ENST00000916818, ENST00000962607, ENST00000962608, ENST00000962609, ENST00000962610, ENST00000962611, ENST00000962612, ENST00000962613, ENST00000962614, ENST00000962615
RefSeq mRNA: 6 — MANE Select: NM_144695
NM_001288579, NM_001288580, NM_001288581, NM_001375661, NM_001375758, NM_144695
CCDS: CCDS1534, CCDS73036, CCDS73037
Canonical transcript exons
ENST00000340934 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001068953 | 222722419 | 222722514 |
| ENSE00001068955 | 222728743 | 222728828 |
| ENSE00001068957 | 222729620 | 222729701 |
| ENSE00001068958 | 222727168 | 222727257 |
| ENSE00001068962 | 222731357 | 222731516 |
| ENSE00001068963 | 222730027 | 222730177 |
| ENSE00003598268 | 222725450 | 222725555 |
| ENSE00003600801 | 222718925 | 222719031 |
| ENSE00003612560 | 222724092 | 222724164 |
| ENSE00003628196 | 222715684 | 222715800 |
| ENSE00003674541 | 222719263 | 222719359 |
| ENSE00003841794 | 222732628 | 222735187 |
| ENSE00003845726 | 222712564 | 222712942 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 98.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.7380 / max 215.3625, expressed in 1818 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8724 | 10.0930 | 1762 |
| 8726 | 8.2018 | 1716 |
| 8728 | 7.7353 | 1704 |
| 8727 | 3.4170 | 1206 |
| 8725 | 3.1736 | 1431 |
| 8729 | 0.1172 | 49 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 98.46 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.79 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.73 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.32 | gold quality |
| upper arm skin | UBERON:0004263 | 97.24 | gold quality |
| corpus callosum | UBERON:0002336 | 97.16 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.89 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.82 | gold quality |
| pons | UBERON:0000988 | 96.80 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 96.69 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.65 | gold quality |
| corpus epididymis | UBERON:0004359 | 96.56 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.53 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.45 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.40 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.40 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.21 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.09 | gold quality |
| deltoid | UBERON:0001476 | 96.06 | gold quality |
| oral cavity | UBERON:0000167 | 96.03 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.94 | gold quality |
| penis | UBERON:0000989 | 95.93 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.84 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.83 | gold quality |
| bronchus | UBERON:0002185 | 95.71 | gold quality |
| caput epididymis | UBERON:0004358 | 95.61 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.55 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.54 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.50 | gold quality |
| medulla oblongata | UBERON:0001896 | 95.46 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6058 | no | 1549.53 |
| E-MTAB-4850 | no | 412.24 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
148 targeting BROX, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
Literature-anchored findings (GeneRIF, showing 4)
- Results revealed that Strep-Brox(WT) exhibited accumulation in the perinuclear area suggested physiological significance of farnesylation of Brox in its subcellular distribution and efficient interaction with CHMP4s in vivo. (PMID:18190528)
- structural analysis of the Bro1 domain protein BROX and functional analyses of the ALIX Bro1 domain in HIV-1 budding (PMID:22162750)
- homologous domain of human Bro1 domain-containing proteins, Alix and Brox, binds CHMP4B but not STAM2, despite their high structural similarity (PMID:26866605)
- BROX haploinsufficiency in familial nonmedullary thyroid cancer. (PMID:32385852)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | brox | ENSDARG00000013659 |
| mus_musculus | Brox | ENSMUSG00000046836 |
| rattus_norvegicus | Brox | ENSRNOG00000052963 |
| caenorhabditis_elegans | WBGENE00015219 |
Protein
Protein identifiers
BRO1 domain-containing protein BROX — Q5VW32 (reviewed: Q5VW32)
Alternative names: BRO1 domain- and CAAX motif-containing protein
All UniProt accessions (3): Q5VW32, F5GXQ0, Q5VW33
UniProt curated annotations — full annotation on UniProt →
Function. Nuclear envelope-associated factor that is involved in the nuclear envelope ruptures during interphase (NERDI) repair, where it is locally recruited by CHMP5 and reduces cytoskeletal stress through its action on SYN2 to help reseal the ruptured membrane.
Subunit / interactions. Monomer. Interacts with CHMP4B. Interacts with CHMP5: this interaction allows the recruitment of BROX to cellular membranes. Interacts with SYN2; this interaction promotes SYN2 ubiquitination and facilitates the relaxation of mechanical stress imposed by compressive actin fibers at the rupture site.
Subcellular location. Nucleus membrane.
Post-translational modifications. Farnesylation is required for nuclear envelope localization.
Similarity. Belongs to the BROX family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VW32-1 | 1 | yes |
| Q5VW32-2 | 2 |
RefSeq proteins (6): NP_001275508, NP_001275509, NP_001275510, NP_001362590, NP_001362687, NP_653296* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004328 | BRO1_dom | Domain |
| IPR038499 | BRO1_sf | Homologous_superfamily |
| IPR038898 | BROX | Family |
Pfam: PF03097
UniProt features (36 total): helix 15, strand 7, mutagenesis site 3, modified residue 2, chain 1, propeptide 1, sequence conflict 1, turn 1, domain 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1, splice variant 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3R9M | X-RAY DIFFRACTION | 1.95 |
| 3ZXP | X-RAY DIFFRACTION | 2.5 |
| 3UM2 | X-RAY DIFFRACTION | 2.59 |
| 3ULY | X-RAY DIFFRACTION | 2.6 |
| 3UM1 | X-RAY DIFFRACTION | 2.71 |
| 3UM0 | X-RAY DIFFRACTION | 3.1 |
| 3UM3 | X-RAY DIFFRACTION | 3.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VW32-F1 | 92.15 | 0.84 |
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): 283, 408, 408
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 350 | loss of syn2 interaction. abolishes brox recruitment to sites of nuclear envelope (ne) rupture. impairs ne resealing. do |
| 408 | loss of association with the nuclear envelop. abolishes its recruitment to rupture sites. abolishes its repair function. |
| 204 | does not affect syn2 interaction. does not induce syn2 ubiquitination. does not affect recruitment to sites of rupture. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 92 (showing top):
GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, GOBP_MEMBRANE_BIOGENESIS, MAYBURD_RESPONSE_TO_L663536_UP, GOBP_ORGANELLE_FISSION, GOBP_NUCLEUS_ORGANIZATION, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_MITOTIC_CELL_CYCLE, GOBP_NUCLEAR_ENVELOPE_ORGANIZATION, GOBP_MEMBRANE_ORGANIZATION, OSMAN_BLADDER_CANCER_DN, GOCC_NUCLEAR_ENVELOPE, GOCC_NUCLEAR_MEMBRANE, GOBP_CELL_CYCLE_PROCESS, GOCC_ORGANELLE_ENVELOPE
GO Biological Process (1): mitotic nuclear membrane reassembly (GO:0007084)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): nuclear envelope (GO:0005635), nuclear membrane (GO:0031965), extracellular exosome (GO:0070062), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleus | 2 |
| mitotic cell cycle | 1 |
| nuclear membrane reassembly | 1 |
| mitotic nuclear membrane organization | 1 |
| binding | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| extracellular vesicle | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
843 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BROX | CHMP6 | Q96FZ7 | 590 |
| BROX | CHMP4A | Q9BY43 | 540 |
| BROX | CHMP5 | Q9NZZ3 | 512 |
| BROX | VPS28 | Q9UK41 | 507 |
| BROX | STAM2 | O75886 | 494 |
| BROX | VPS25 | Q9BRG1 | 480 |
| BROX | CHMP3 | Q9Y3E7 | 466 |
| BROX | A0A140T963 | A0A140T963 | 466 |
| BROX | VTA1 | Q9NP79 | 462 |
| BROX | RHBDD2 | Q6NTF9 | 459 |
| BROX | ANO7 | Q6IWH7 | 459 |
| BROX | SNF8 | Q96H20 | 459 |
| BROX | TSG101 | Q99816 | 458 |
| BROX | HABP2 | Q14520 | 450 |
| BROX | CHMP1A | Q9HD42 | 446 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BROX | CHMP5 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| BROX | CHMP5 | psi-mi:“MI:0915”(physical association) | 0.610 |
| BROX | CHMP4B | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| BROX | CHMP4B | psi-mi:“MI:0915”(physical association) | 0.610 |
| BROX | TCEA1 | psi-mi:“MI:0914”(association) | 0.560 |
| BROX | TCEA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BROX | CHMP4A | psi-mi:“MI:0915”(physical association) | 0.400 |
| BROX | CHMP4C | psi-mi:“MI:0915”(physical association) | 0.400 |
| BROX | HNRNPCL2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| BROX | psi-mi:“MI:0915”(physical association) | 0.370 | |
| NS3 | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 | |
| RNF149 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| NFYA | NME2P1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC6 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| AIMP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| AIMP1 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAVS | CHMP2A | psi-mi:“MI:0914”(association) | 0.350 |
| CACYBP | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CACYBP | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (52): BROX (Co-fractionation), LDHA (Co-fractionation), PDCD6IP (Co-fractionation), SORD (Co-fractionation), TCEA1 (Affinity Capture-MS), CHMP1A (Affinity Capture-MS), IPO9 (Affinity Capture-MS), BROX (Affinity Capture-MS), BROX (Affinity Capture-MS), BROX (Affinity Capture-MS), BROX (Proximity Label-MS), BROX (Affinity Capture-MS), BROX (Affinity Capture-MS), BROX (Affinity Capture-MS), TCEA1 (Affinity Capture-MS)
ESM2 similar proteins: A3KQV2, A4IIL4, O00471, O54921, P48553, P62944, P63009, P63010, P79020, P97878, Q00004, Q0IIZ5, Q1L8F9, Q29RF7, Q3SYS9, Q3TLI0, Q3TPX4, Q498H0, Q4G074, Q4QR29, Q4V8K5, Q4VA53, Q5F3K0, Q5KU05, Q5R6J0, Q5RDD7, Q5VW32, Q5VYK3, Q62018, Q6DDM4, Q6DEU9, Q6IR80, Q6P1I3, Q6PD62, Q6PDI5, Q6TRW4, Q6ZPU9, Q8BMA6, Q8K2Q7, Q8WUM4
Diamond homologs: A3KQV2, A4IIL4, Q22885, Q4V8K5, Q5RDD7, Q5VW32, Q8K2Q7, Q756C5, Q12033, Q6CU63, Q8WZL4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Budding and maturation of HIV virion | 6 | 61.2× | 1e-07 |
| Endosomal Sorting Complex Required For Transport (ESCRT) | 6 | 55.3× | 1e-07 |
| Sealing of the nuclear envelope (NE) by ESCRT-III | 5 | 43.3× | 6e-06 |
| Late endosomal microautophagy | 5 | 40.8× | 6e-06 |
| HCMV Late Events | 5 | 12.3× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nuclear membrane reassembly | 6 | 110.1× | 4e-09 |
| late endosome to lysosome transport | 5 | 91.8× | 7e-08 |
| viral budding via host ESCRT complex | 6 | 89.2× | 6e-09 |
| multivesicular body sorting pathway | 5 | 74.3× | 2e-07 |
| midbody abscission | 5 | 67.8× | 3e-07 |
| regulation of mitotic spindle assembly | 5 | 67.8× | 3e-07 |
| ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | 6 | 60.4× | 3e-08 |
| multivesicular body assembly | 6 | 58.5× | 3e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1980 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:222713668:G:GG | donor_gain | 1.0000 |
| 1:222713703:GGAA:G | donor_gain | 1.0000 |
| 1:222713704:G:GT | donor_gain | 1.0000 |
| 1:222713726:G:GT | donor_gain | 1.0000 |
| 1:222713726:GAA:G | donor_gain | 1.0000 |
| 1:222713760:C:G | donor_gain | 1.0000 |
| 1:222715682:A:AG | acceptor_gain | 1.0000 |
| 1:222715683:G:GG | acceptor_gain | 1.0000 |
| 1:222715797:GCAA:G | donor_gain | 1.0000 |
| 1:222715799:AAGT:A | donor_loss | 1.0000 |
| 1:222715800:AG:A | donor_loss | 1.0000 |
| 1:222715801:G:GG | donor_gain | 1.0000 |
| 1:222715801:GTA:G | donor_loss | 1.0000 |
| 1:222715802:T:A | donor_loss | 1.0000 |
| 1:222718921:T:G | acceptor_gain | 1.0000 |
| 1:222718922:A:AG | acceptor_gain | 1.0000 |
| 1:222718922:AAGT:A | acceptor_gain | 1.0000 |
| 1:222718923:A:AG | acceptor_gain | 1.0000 |
| 1:222718924:G:GG | acceptor_gain | 1.0000 |
| 1:222718924:GT:G | acceptor_gain | 1.0000 |
| 1:222719258:TATA:T | acceptor_loss | 1.0000 |
| 1:222719260:TA:T | acceptor_loss | 1.0000 |
| 1:222719261:A:AC | acceptor_loss | 1.0000 |
| 1:222719261:A:AG | acceptor_gain | 1.0000 |
| 1:222719262:G:GA | acceptor_gain | 1.0000 |
| 1:222719353:TTCCA:T | donor_gain | 1.0000 |
| 1:222719356:CAAGG:C | donor_loss | 1.0000 |
| 1:222719357:AAGG:A | donor_loss | 1.0000 |
| 1:222719358:AGGTA:A | donor_loss | 1.0000 |
| 1:222719359:GGTAA:G | donor_loss | 1.0000 |
AlphaMissense
2678 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:222719328:T:A | W92R | 1.000 |
| 1:222719328:T:C | W92R | 1.000 |
| 1:222728784:T:A | W238R | 1.000 |
| 1:222728784:T:C | W238R | 1.000 |
| 1:222715709:T:A | W4R | 0.999 |
| 1:222715709:T:C | W4R | 0.999 |
| 1:222715719:G:T | R7M | 0.999 |
| 1:222715732:A:C | K11N | 0.999 |
| 1:222715732:A:T | K11N | 0.999 |
| 1:222724130:T:C | L147P | 0.999 |
| 1:222724139:C:A | A150E | 0.999 |
| 1:222724141:G:C | A151P | 0.999 |
| 1:222725540:G:C | A189P | 0.999 |
| 1:222725541:C:A | A189D | 0.999 |
| 1:222725546:G:C | A191P | 0.999 |
| 1:222725547:C:A | A191D | 0.999 |
| 1:222727180:G:C | R198P | 0.999 |
| 1:222727182:G:C | A199P | 0.999 |
| 1:222727183:C:A | A199E | 0.999 |
| 1:222727216:C:A | A210D | 0.999 |
| 1:222727224:G:C | A213P | 0.999 |
| 1:222729636:G:A | G258D | 0.999 |
| 1:222729671:G:C | A270P | 0.999 |
| 1:222729684:T:C | L274P | 0.999 |
| 1:222729692:G:C | A277P | 0.999 |
| 1:222730169:T:A | N327K | 0.999 |
| 1:222730169:T:G | N327K | 0.999 |
| 1:222730177:T:A | I330N | 0.999 |
| 1:222730177:T:C | I330T | 0.999 |
| 1:222731358:T:G | Y331D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000095755 (1:222711862 G>A), RS1000323571 (1:222715151 A>C), RS1000553936 (1:222728168 C>T), RS1000718400 (1:222715536 C>T), RS1000882652 (1:222735329 A>G), RS1000915108 (1:222715869 A>G,T), RS1001127741 (1:222731605 A>G), RS1001139450 (1:222727768 A>G,T), RS1001388798 (1:222718374 G>A,T), RS1001450338 (1:222725045 G>A,C), RS1001524508 (1:222712830 C>T), RS1001587791 (1:222718574 T>A), RS1001710497 (1:222734148 T>C), RS1001732869 (1:222715958 C>A,T), RS1001763014 (1:222733725 G>T)
Disease associations
OMIM: gene `` | 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): CHEMBL6066473 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3748631 | AIDA, BROX | 0.00 | 0 | ||
| rs35762933 | AIDA, BROX | 0.00 | 0 |
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 |
|---|---|---|---|---|
| 7.31 | Kd | 48.97 | nM | CHEMBL5653589 |
| 7.31 | ED50 | 48.97 | nM | CHEMBL5653589 |
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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147959: Binding affinity to human BROX incubated for 45 mins by Kinobead based pull down assay | kd | 0.0490 | uM |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| resorcinol | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | 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 |
|---|---|---|---|
| CHEMBL5651001 | Binding | Binding affinity to human BROX 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.