ZNF207
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Also known as BuGZ
Summary
ZNF207 (zinc finger protein 207, HGNC:12998) is a protein-coding gene on chromosome 17q11.2, encoding BUB3-interacting and GLEBS motif-containing protein ZNF207 (O43670). Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly. It is a common-essential gene (DepMap: required in 95.9% of cancer cell lines).
Enables microtubule binding activity. Involved in mitotic spindle assembly checkpoint signaling; nuclear chromosome segregation; and protein stabilization. Located in kinetochore; nuclear lumen; and spindle matrix.
Source: NCBI Gene 7756 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 64 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 95.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001098507
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12998 |
| Approved symbol | ZNF207 |
| Name | zinc finger protein 207 |
| Location | 17q11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BuGZ |
| Ensembl gene | ENSG00000010244 |
| Ensembl biotype | protein_coding |
| OMIM | 603428 |
| Entrez | 7756 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 22 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000321233, ENST00000342555, ENST00000394670, ENST00000394673, ENST00000394679, ENST00000577324, ENST00000577908, ENST00000578918, ENST00000579416, ENST00000579634, ENST00000579810, ENST00000580759, ENST00000581531, ENST00000582165, ENST00000582705, ENST00000584416, ENST00000584696, ENST00000868080, ENST00000868081, ENST00000868082, ENST00000868083, ENST00000914402, ENST00000914403, ENST00000914404, ENST00000914405, ENST00000914406, ENST00000914407, ENST00000970199, ENST00000970202
RefSeq mRNA: 3 — MANE Select: NM_001098507
NM_001032293, NM_001098507, NM_003457
CCDS: CCDS11271, CCDS32614, CCDS42294
Canonical transcript exons
ENST00000394670 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000360900 | 32360892 | 32360967 |
| ENSE00000360902 | 32365330 | 32365487 |
| ENSE00000360903 | 32366665 | 32366757 |
| ENSE00000360905 | 32369295 | 32369454 |
| ENSE00000712920 | 32367772 | 32368014 |
| ENSE00001364975 | 32361468 | 32361515 |
| ENSE00001825204 | 32369599 | 32381885 |
| ENSE00002734466 | 32350157 | 32350326 |
| ENSE00003479117 | 32362914 | 32362984 |
| ENSE00003498509 | 32358503 | 32358641 |
| ENSE00003511268 | 32351786 | 32351912 |
| ENSE00003670974 | 32360598 | 32360765 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 149.3913 / max 2244.7374, expressed in 1828 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160228 | 148.9324 | 1828 |
| 160229 | 0.4589 | 190 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 98.41 | gold quality |
| embryo | UBERON:0000922 | 98.19 | gold quality |
| ventricular zone | UBERON:0003053 | 98.18 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.15 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.10 | gold quality |
| lymph node | UBERON:0000029 | 98.01 | gold quality |
| monocyte | CL:0000576 | 97.98 | gold quality |
| mononuclear cell | CL:0000842 | 97.96 | gold quality |
| left ovary | UBERON:0002119 | 97.93 | gold quality |
| ectocervix | UBERON:0012249 | 97.90 | gold quality |
| leukocyte | CL:0000738 | 97.89 | gold quality |
| rectum | UBERON:0001052 | 97.87 | gold quality |
| tonsil | UBERON:0002372 | 97.86 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.85 | gold quality |
| oral cavity | UBERON:0000167 | 97.79 | gold quality |
| endocervix | UBERON:0000458 | 97.79 | gold quality |
| body of uterus | UBERON:0009853 | 97.78 | gold quality |
| endothelial cell | CL:0000115 | 97.76 | gold quality |
| right ovary | UBERON:0002118 | 97.76 | gold quality |
| vagina | UBERON:0000996 | 97.74 | gold quality |
| mouth mucosa | UBERON:0003729 | 97.71 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 97.70 | gold quality |
| right uterine tube | UBERON:0001302 | 97.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.67 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.66 | gold quality |
| skin of leg | UBERON:0001511 | 97.66 | gold quality |
| bone marrow cell | CL:0002092 | 97.60 | gold quality |
| esophagus | UBERON:0001043 | 97.60 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.59 | 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
miRNA regulators (miRDB)
67 targeting ZNF207, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 95.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- BuGZ forms temperature-dependent liquid droplets alone or on microtubules in physiological buffers. Coacervation in vitro or in spindle and spindle matrix depends on hydrophobic residues in BuGZ. BuGZ coacervation and its binding to microtubules and tubulin are required to promote assembly of spindle and spindle matrix in Xenopus egg extract and in mammalian cells. (PMID:26388440)
- the two zinc fingers of BuGZ directly bind to AurA and BuGZ coacervation appears to promote AurA activation during spindle assembly. (PMID:29074706)
- a distinct isoform of ZNF207 functions in hESCs at the nexus that balances pluripotency and differentiation to ectoderm. (PMID:30349051)
- ZNF207 expression is elevated in hepatocellular carcinoma (PMID:31113916)
- BuGZ facilitates loading of spindle assembly checkpoint proteins to kinetochores in early mitosis. (PMID:32820050)
- System analysis based on the cancer-immunity cycle identifies ZNF207 as a novel immunotherapy target for hepatocellular carcinoma. (PMID:35246476)
- SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3. (PMID:37535603)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf207a | ENSDARG00000015538 |
| danio_rerio | znf207b | ENSDARG00000101277 |
| mus_musculus | Zfp207 | ENSMUSG00000017421 |
| rattus_norvegicus | Zfp207 | ENSRNOG00000000236 |
| caenorhabditis_elegans | WBGENE00007105 |
Protein
Protein identifiers
BUB3-interacting and GLEBS motif-containing protein ZNF207 — O43670 (reviewed: O43670)
Alternative names: Zinc finger protein 207
All UniProt accessions (9): O43670, H0Y3M2, J3KRB6, J3KRW6, J3KS31, J3KTL1, J3QRS9, J3QS27, X6R4W8
UniProt curated annotations — full annotation on UniProt →
Function. Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly. ZNF207/BuGZ is mainly composed of disordered low-complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks. Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kinetochore loading of BUB3. Mechanisms by which BUB3 is protected are unclear: according to a first report, ZNF207/BuGZ may act by blocking ubiquitination and proteasomal degradation of BUB3. According to another report, the stabilization is independent of the proteasome.
Subunit / interactions. Interacts (via GLEBS region) with BUB3.
Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore. Cytoplasm. Cytoskeleton. Spindle.
Tissue specificity. Ubiquitous.
Domain organisation. The GLEBS region mediates interaction with BUB3. The microtubule-binding region is required for efficient loading of BUB3 onto kinetochores and proper mitosis. Mainly composed of disordered low-complexity regions outside of the C2H2-type zinc fingers. Coacervation depends on hydrophobic and aromatic Phe and Tyr in the disordered low-complexity region, that may promote coacervation by forming intermolecular hydrophobic interactions.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43670-1 | 1 | yes |
| O43670-2 | 2 | |
| O43670-3 | 3 | |
| O43670-4 | 4 |
RefSeq proteins (3): NP_001027464, NP_001091977, NP_003448 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
UniProt features (22 total): compositionally biased region 8, region of interest 6, splice variant 3, zinc finger region 2, chain 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43670-F1 | 61.30 | 0.17 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 373–374 | in bugzaa: abolishes interaction with bub3. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 249 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_ATTACHMENT_OF_SPINDLE_MICROTUBULES_TO_KINETOCHORE, WWTAAGGC_UNKNOWN, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_CHROMOSOME_LOCALIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_CHROMOSOME_SEPARATION, chr17q11, GOLDRATH_ANTIGEN_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION
GO Biological Process (10): mitotic sister chromatid segregation (GO:0000070), microtubule bundle formation (GO:0001578), mitotic spindle assembly checkpoint signaling (GO:0007094), attachment of spindle microtubules to kinetochore (GO:0008608), microtubule polymerization (GO:0046785), protein stabilization (GO:0050821), cell division (GO:0051301), regulation of chromosome segregation (GO:0051983), mitotic spindle assembly (GO:0090307), chromosome segregation (GO:0007059)
GO Molecular Function (7): DNA binding (GO:0003677), RNA binding (GO:0003723), microtubule binding (GO:0008017), heparin binding (GO:0008201), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (11): kinetochore (GO:0000776), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), spindle (GO:0005819), microtubule (GO:0005874), spindle matrix (GO:1990047), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 5 |
| cellular anatomical structure | 3 |
| mitotic nuclear division | 2 |
| cell cycle process | 2 |
| nucleic acid binding | 2 |
| nuclear lumen | 2 |
| microtubule cytoskeleton | 2 |
| sister chromatid segregation | 1 |
| mitotic cell cycle process | 1 |
| microtubule cytoskeleton organization | 1 |
| mitotic cell cycle | 1 |
| negative regulation of mitotic metaphase/anaphase transition | 1 |
| spindle assembly checkpoint signaling | 1 |
| mitotic spindle checkpoint signaling | 1 |
| microtubule binding | 1 |
| metaphase chromosome alignment | 1 |
| microtubule nucleation | 1 |
| microtubule polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| supramolecular fiber organization | 1 |
| regulation of protein stability | 1 |
| cellular process | 1 |
| chromosome segregation | 1 |
| regulation of cell cycle process | 1 |
| mitotic sister chromatid segregation | 1 |
| mitotic spindle organization | 1 |
| spindle assembly | 1 |
| tubulin binding | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoskeleton | 1 |
| chromosomal region | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1746 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF207 | BUB3 | O43684 | 962 |
| ZNF207 | SF3A3 | Q12874 | 670 |
| ZNF207 | RAE1 | P78406 | 548 |
| ZNF207 | CRLF3 | Q8IUI8 | 497 |
| ZNF207 | CLVS2 | Q5SYC1 | 470 |
| ZNF207 | MRPL3 | P09001 | 436 |
| ZNF207 | ZMAT2 | Q96NC0 | 427 |
| ZNF207 | ZNF319 | Q9P2F9 | 416 |
| ZNF207 | SF3A2 | Q15428 | 401 |
| ZNF207 | DCPS | Q96C86 | 400 |
| ZNF207 | BUB1 | O43683 | 389 |
| ZNF207 | RNF149 | Q8NC42 | 383 |
| ZNF207 | ZNF277 | Q9NRM2 | 371 |
| ZNF207 | MDP1 | Q86V88 | 366 |
| ZNF207 | ELAVL4 | P26378 | 358 |
IntAct
85 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| BUB3 | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.690 |
| ZNF207 | BUB3 | psi-mi:“MI:0403”(colocalization) | 0.690 |
| BUB3 | ZNF207 | psi-mi:“MI:0914”(association) | 0.690 |
| ZNF207 | BUB3 | psi-mi:“MI:0915”(physical association) | 0.690 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| ZNF207 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SF3A2 | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WBP4 | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF207 | E7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCL1 | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.370 |
| POLR1B | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF207 | MAP2K2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPUL1 | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.370 |
| WDR77 | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HNRNPM | ZNF207 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SF1 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| USP7 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (141): ZNF207 (Affinity Capture-RNA), ZNF207 (Affinity Capture-RNA), ZNF207 (Affinity Capture-RNA), ZNF207 (Affinity Capture-MS), ZNF207 (Affinity Capture-MS), BUB3 (Co-fractionation), ZNF207 (Affinity Capture-MS), ZNF207 (Proximity Label-MS), ZNF207 (Affinity Capture-MS), ZNF207 (Affinity Capture-MS), ZNF207 (Affinity Capture-MS), ZNF207 (Affinity Capture-MS), UBR5 (Affinity Capture-Western), ZNF207 (Reconstituted Complex), KPNB1 (Affinity Capture-Western)
ESM2 similar proteins: A7EYK3, A7SEP9, A8NYM5, A8XW44, B0JYS7, B7Q2M2, C0NN85, C3Z1P5, C5XYW4, C5XZK6, C7YRT4, D0NHA2, D3B3B7, D3ZCL3, D5GDH4, E0VI98, E1C6F0, E2RGI3, E3KIY6, E3LAN7, E3X5D6, F6HQ26, F6TFD9, F7ARS3, O43670, P09234, P33240, P90815, Q03369, Q16IW3, Q1K7T5, Q1RLC9, Q298E0, Q32PA0, Q4N6K2, Q4WQM6, Q56XE4, Q5BBX9, Q5KC16, Q5R8K4
Diamond homologs: O43670, Q5R8K4, Q7ZXV8, Q9C5G0, Q9JMD0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 85 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 |
|---|---|---|---|
| mRNA Polyadenylation | 15 | 20.0× | 9e-14 |
| mRNA Splicing | 12 | 20.0× | 7e-11 |
| Processing of Capped Intron-Containing Pre-mRNA | 16 | 19.9× | 1e-14 |
| mRNA Splicing - Minor Pathway | 5 | 17.0× | 7e-04 |
| mRNA Splicing - Major Pathway | 19 | 15.7× | 2e-15 |
| CHD1 and CHD2 subfamily | 7 | 11.5× | 2e-04 |
| Dengue Virus-Host Interactions | 15 | 10.4× | 9e-10 |
| G2/M DNA damage checkpoint | 5 | 9.1× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 5 | 42.2× | 3e-05 |
| mRNA splicing, via spliceosome | 15 | 18.6× | 1e-12 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1907 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:32358498:GTTA:G | acceptor_loss | 1.0000 |
| 17:32358499:TTA:T | acceptor_loss | 1.0000 |
| 17:32358501:A:AC | acceptor_loss | 1.0000 |
| 17:32358501:A:AG | acceptor_gain | 1.0000 |
| 17:32358501:AG:A | acceptor_gain | 1.0000 |
| 17:32358502:G:A | acceptor_loss | 1.0000 |
| 17:32358502:G:GA | acceptor_gain | 1.0000 |
| 17:32358502:GG:G | acceptor_gain | 1.0000 |
| 17:32358502:GGT:G | acceptor_gain | 1.0000 |
| 17:32358502:GGTA:G | acceptor_gain | 1.0000 |
| 17:32358502:GGTAC:G | acceptor_gain | 1.0000 |
| 17:32358640:AG:A | donor_gain | 1.0000 |
| 17:32358641:GG:G | donor_gain | 1.0000 |
| 17:32358641:GGTA:G | donor_loss | 1.0000 |
| 17:32358642:G:GG | donor_gain | 1.0000 |
| 17:32358652:GGA:G | donor_gain | 1.0000 |
| 17:32358653:GA:G | donor_gain | 1.0000 |
| 17:32360593:A:AG | acceptor_gain | 1.0000 |
| 17:32360594:A:G | acceptor_gain | 1.0000 |
| 17:32360595:C:G | acceptor_gain | 1.0000 |
| 17:32360596:A:AG | acceptor_gain | 1.0000 |
| 17:32360597:G:GT | acceptor_gain | 1.0000 |
| 17:32360597:GA:G | acceptor_gain | 1.0000 |
| 17:32360597:GAA:G | acceptor_gain | 1.0000 |
| 17:32360597:GAAA:G | acceptor_gain | 1.0000 |
| 17:32360754:G:GT | donor_gain | 1.0000 |
| 17:32360755:A:T | donor_gain | 1.0000 |
| 17:32360761:TCCAG:T | donor_loss | 1.0000 |
| 17:32360762:CCAGG:C | donor_loss | 1.0000 |
| 17:32360763:CAGG:C | donor_loss | 1.0000 |
AlphaMissense
3215 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:32350289:G:C | G2R | 1.000 |
| 17:32350289:G:T | G2C | 1.000 |
| 17:32350290:G:A | G2D | 1.000 |
| 17:32350290:G:T | G2V | 1.000 |
| 17:32350292:C:A | R3S | 1.000 |
| 17:32350292:C:T | R3C | 1.000 |
| 17:32350293:G:A | R3H | 1.000 |
| 17:32350295:A:G | K4E | 1.000 |
| 17:32350296:A:T | K4M | 1.000 |
| 17:32350297:G:C | K4N | 1.000 |
| 17:32350297:G:T | K4N | 1.000 |
| 17:32350317:C:A | P11Q | 1.000 |
| 17:32350317:C:G | P11R | 1.000 |
| 17:32350319:T:A | W12R | 1.000 |
| 17:32350319:T:C | W12R | 1.000 |
| 17:32350320:G:C | W12S | 1.000 |
| 17:32350320:G:T | W12L | 1.000 |
| 17:32350321:G:C | W12C | 1.000 |
| 17:32350321:G:T | W12C | 1.000 |
| 17:32350322:T:A | C13S | 1.000 |
| 17:32350322:T:C | C13R | 1.000 |
| 17:32350323:G:A | C13Y | 1.000 |
| 17:32350323:G:C | C13S | 1.000 |
| 17:32350323:G:T | C13F | 1.000 |
| 17:32350324:C:G | C13W | 1.000 |
| 17:32350325:T:A | W14R | 1.000 |
| 17:32350325:T:C | W14R | 1.000 |
| 17:32351786:G:C | W14C | 1.000 |
| 17:32351786:G:T | W14C | 1.000 |
| 17:32351787:T:A | Y15N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000097005 (17:32378629 C>A,G), RS1000121677 (17:32357358 T>A), RS1000181486 (17:32376900 GCT>G), RS1000200727 (17:32373857 G>A), RS1000210740 (17:32370654 T>C), RS1000253203 (17:32362685 C>T), RS1000335444 (17:32368516 A>G), RS1000358694 (17:32355645 G>A,C,T), RS1000430204 (17:32368243 T>C), RS1000613224 (17:32360986 T>C), RS1000641267 (17:32353749 A>G), RS1000643863 (17:32367339 G>T), RS1000716910 (17:32367663 A>G,T), RS1000832518 (17:32352052 C>A,T), RS1000845860 (17:32374034 T>A,C,G)
Disease associations
OMIM: gene MIM:603428 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004485_43 | Survival in pancreatic cancer | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000638 | overall survival |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724610 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
5 potent at pChembl≥5 of 5 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.17 | Kd | 67 | nM | CHEMBL5566563 |
| 6.49 | Kd | 325 | nM | CHEMBL5653589 |
| 6.49 | ED50 | 325 | nM | CHEMBL5653589 |
| 5.83 | IC50 | 1480 | nM | MOLIBRESIB |
| 5.62 | Kd | 2400 | nM | CHEMBL5572679 |
PubChem BioAssay actives
4 with measured affinity, of 14 total; 4 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 |
|---|---|---|---|---|
| N-[2-(1-benzylpiperidin-4-yl)ethyl]-8-bromo-15-cyanotetracyclo[6.6.2.02,7.09,14]hexadeca-2,4,6,9,11,13-hexaene-15-carboxamide | 2090207: Binding affinity to human ZNF207 assessed as dissociation constant by SPR analysis | kd | 0.0670 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149815: Binding affinity to human ZNF207 incubated for 45 mins by Kinobead based pull down assay | kd | 0.3250 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178815: Inhibition of ZNF207 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 1.4800 | uM |
| 15-cyano-N-(4-nitrophenyl)tetracyclo[6.6.2.02,7.09,14]hexadeca-2,4,6,9,11,13-hexaene-15-carboxamide | 2090207: Binding affinity to human ZNF207 assessed as dissociation constant by SPR analysis | kd | 2.4000 | uM |
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 6 |
| bisphenol A | affects cotreatment, increases methylation, decreases expression, increases expression | 4 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation, increases expression | 2 |
| Formaldehyde | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| geldanamycin | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| geraniol | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2-bromopalmitate | increases palmitoylation, decreases reaction, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| pinosylvin | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
ChEMBL screening assays
12 unique, capped per target: 12 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5530938 | Binding | Binding affinity to human ZNF207 assessed as dissociation constant by SPR analysis | Discovery of Novel N-(Anthracen-9-ylmethyl) Benzamide Derivatives as ZNF207 Inhibitors Promising in Treating Glioma. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): exocrine pancreatic carcinoma