ZNF639
gene geneOn this page
Also known as ANC-2H01ZASC1
Summary
ZNF639 (zinc finger protein 639, HGNC:30950) is a protein-coding gene on chromosome 3q26.33, encoding Zinc finger protein 639 (Q9UID6). Binds DNA and may function as a transcriptional repressor.
This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51193 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 48 total
- MANE Select transcript:
NM_001303426
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30950 |
| Approved symbol | ZNF639 |
| Name | zinc finger protein 639 |
| Location | 3q26.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ANC-2H01, ZASC1 |
| Ensembl gene | ENSG00000121864 |
| Ensembl biotype | protein_coding |
| OMIM | 619214 |
| Entrez | 51193 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000326361, ENST00000466264, ENST00000466663, ENST00000481587, ENST00000483460, ENST00000484866, ENST00000491818, ENST00000494234, ENST00000496856, ENST00000621687, ENST00000908082, ENST00000908083, ENST00000908084, ENST00000908085, ENST00000971543
RefSeq mRNA: 10 — MANE Select: NM_001303426
NM_001303425, NM_001303426, NM_001375800, NM_001375802, NM_001375803, NM_001375804, NM_001375805, NM_001375806, NM_001375807, NM_016331
CCDS: CCDS3227
Canonical transcript exons
ENST00000496856 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001268779 | 179333269 | 179338583 |
| ENSE00001268789 | 179328283 | 179328351 |
| ENSE00001512751 | 179327561 | 179327631 |
| ENSE00001819600 | 179323031 | 179323291 |
| ENSE00003570719 | 179332989 | 179333123 |
| ENSE00003661548 | 179329618 | 179329728 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 95.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.0568 / max 134.4453, expressed in 1786 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 39924 | 10.1699 | 1762 |
| 39923 | 2.8868 | 1431 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 95.00 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.23 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.36 | gold quality |
| ventricular zone | UBERON:0003053 | 92.99 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.29 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.08 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.00 | gold quality |
| tibial artery | UBERON:0007610 | 91.56 | gold quality |
| popliteal artery | UBERON:0002250 | 91.55 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.39 | gold quality |
| biceps brachii | UBERON:0001507 | 91.31 | gold quality |
| aorta | UBERON:0000947 | 91.30 | gold quality |
| synovial joint | UBERON:0002217 | 91.02 | gold quality |
| thoracic aorta | UBERON:0001515 | 90.98 | gold quality |
| caput epididymis | UBERON:0004358 | 90.94 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.91 | gold quality |
| ascending aorta | UBERON:0001496 | 90.90 | gold quality |
| right coronary artery | UBERON:0001625 | 90.79 | gold quality |
| skin of hip | UBERON:0001554 | 90.78 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.73 | gold quality |
| tendon | UBERON:0000043 | 90.63 | gold quality |
| body of uterus | UBERON:0009853 | 90.47 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.41 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.41 | gold quality |
| left uterine tube | UBERON:0001303 | 90.40 | gold quality |
| endocervix | UBERON:0000458 | 90.39 | gold quality |
| upper leg skin | UBERON:0004262 | 90.39 | gold quality |
| lower esophagus | UBERON:0013473 | 90.38 | gold quality |
| rectum | UBERON:0001052 | 90.37 | gold quality |
| endometrium | UBERON:0001295 | 90.37 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting ZNF639, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
Literature-anchored findings (GeneRIF, showing 2)
- ZASC1 copy number that increased from primary to recurrent tumor suggested the importance of ZASC1 in tumor progression. The increase of ZASC1 gene copy number in recurrent tumors was associated with the consumption of betel quid in patients. (PMID:20646234)
- ZASC1 as novel regulator of HIV-1 gene expression that functions through the DNA-dependent, RNA-independent recruitment of TAT/P-TEFb to the HIV-1 promoter. (PMID:24204263)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfp639 | ENSMUSG00000027667 |
| rattus_norvegicus | Zfp639 | ENSRNOG00000043053 |
| drosophila_melanogaster | CG14442 | FBGN0029893 |
| drosophila_melanogaster | CG14440 | FBGN0029894 |
Paralogs (11): IKZF2 (ENSG00000030419), ZNF821 (ENSG00000102984), IKZF4 (ENSG00000123411), ZNF382 (ENSG00000161298), IKZF3 (ENSG00000161405), ZNF613 (ENSG00000176024), IKZF1 (ENSG00000185811), ZNF567 (ENSG00000189042), ZNF649 (ENSG00000198093), ZNF564 (ENSG00000249709), ZNF350 (ENSG00000256683)
Protein
Protein identifiers
Zinc finger protein 639 — Q9UID6 (reviewed: Q9UID6)
Alternative names: Zinc finger protein ANC_2H01, Zinc finger protein ZASC1
All UniProt accessions (5): C9IZP0, C9J3R1, Q9UID6, J3KR59, J3KR68
UniProt curated annotations — full annotation on UniProt →
Function. Binds DNA and may function as a transcriptional repressor.
Subunit / interactions. Interacts with CTNNA2.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (10): NP_001290354, NP_001290355, NP_001362729, NP_001362731, NP_001362732, NP_001362733, NP_001362734, NP_001362735, NP_001362736, NP_057415 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050527 |
Pfam: PF00096
UniProt features (18 total): zinc finger region 8, cross-link 4, region of interest 2, modified residue 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UID6-F1 | 53.24 | 0.00 |
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 (6): 60, 88, 76, 177, 181, 226
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 133 (showing top):
GOBP_HOST_MEDIATED_ACTIVATION_OF_VIRAL_TRANSCRIPTION, GOBP_GROWTH, GOBP_HOST_MEDIATED_SUPPRESSION_OF_VIRAL_TRANSCRIPTION, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, chr3q26, GOBP_HOST_MEDIATED_PERTURBATION_OF_VIRAL_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_HOST, GOBP_VIRAL_LIFE_CYCLE, GOBP_HOST_MEDIATED_ACTIVATION_OF_VIRAL_PROCESS, GOBP_POSITIVE_REGULATION_OF_GROWTH, MODULE_277, GOBP_CELL_GROWTH
GO Biological Process (7): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of cell growth (GO:0030307), host-mediated suppression of viral transcription (GO:0043922), host-mediated activation of viral transcription (GO:0043923), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), symbiont entry into host cell (GO:0046718)
GO Molecular Function (8): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| transcription by RNA polymerase II | 2 |
| host-mediated perturbation of viral transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| positive regulation of growth | 1 |
| positive regulation of cellular process | 1 |
| host-mediated suppression of viral proces | 1 |
| host-mediated activation of viral process | 1 |
| DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| viral life cycle | 1 |
| symbiont entry into host | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
770 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF639 | CTNNA2 | P26232 | 569 |
| ZNF639 | ZBTB2 | Q8N680 | 487 |
| ZNF639 | HDAC1 | Q13547 | 417 |
| ZNF639 | ZBTB5 | O15062 | 415 |
| ZNF639 | ZBTB25 | P24278 | 415 |
| ZNF639 | SCRN3 | Q0VDG4 | 414 |
| ZNF639 | K7ESF6 | K7ESF6 | 385 |
| ZNF639 | ZNF44 | P15621 | 385 |
| ZNF639 | ZNF629 | Q9UEG4 | 383 |
| ZNF639 | ZNF436 | Q9C0F3 | 383 |
| ZNF639 | ZNF569 | Q5MCW4 | 383 |
| ZNF639 | ZNF501 | Q96CX3 | 378 |
| ZNF639 | DCUN1D1 | Q96GG9 | 374 |
| ZNF639 | AFF1 | P51825 | 329 |
| ZNF639 | ANKRD54 | Q6NXT1 | 323 |
IntAct
83 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| RBBP4 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.790 |
| ZNF639 | PNKP | psi-mi:“MI:0915”(physical association) | 0.720 |
| PNKP | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBTB2 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZBTB2 | ZBTB25 | psi-mi:“MI:0914”(association) | 0.670 |
| ZNF639 | CTNNA2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| ZNF639 | CTNNA2 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| PRPF18 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MPP1 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB24 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF250 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MCRS1 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF792 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF837 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELAVL4 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RASSF8 | CORO1A | psi-mi:“MI:0914”(association) | 0.530 |
| MBD3L1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.530 |
| RIN3 | ZNF639 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Mta1 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| Zbtb2 | ENO1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (37): ZNF639 (Two-hybrid), ZNF639 (Affinity Capture-MS), ZNF639 (Affinity Capture-MS), ZNF639 (Two-hybrid), ZNF639 (Affinity Capture-MS), ZNF639 (Affinity Capture-MS), ZNF639 (Affinity Capture-MS), ZNF639 (Affinity Capture-MS), ZNF639 (Affinity Capture-MS), ZNF639 (Affinity Capture-MS), ZNF639 (Synthetic Lethality), ZNF639 (Two-hybrid), ZNF639 (Two-hybrid), MPP1 (Two-hybrid), ZNF837 (Two-hybrid)
ESM2 similar proteins: A0A0A6YYL3, A5PK30, A7KBS4, B3NP26, B4GBA9, B4HMH2, B4P8I0, B4QIJ9, B7ZQJ9, E1JH25, G3X9G7, H3BUK9, P10925, P18853, P20662, P98182, Q09377, Q0VCB0, Q10127, Q19203, Q290S5, Q2EI20, Q2EI21, Q4R6J4, Q5NVT2, Q5PPG4, Q5SVQ8, Q5T5D7, Q5UR86, Q65XX7, Q6IQ21, Q6NRM8, Q7JUR5, Q7K4M4, Q7Z142, Q8BIQ8, Q8C0P7, Q8IRH5, Q8NAP3, Q8T053
Diamond homologs: A5PK30, P80944, Q29419, Q5PPG4, Q99KZ6, Q9UID6, A1L2U9, A2A884, A2ANX9, A7Y7X5, A8K8V0, B1WAZ8, B1WBU4, E9PZZ1, G5EBU4, O15391, O60315, O62836, O75362, O95863, P08048, P0CS62, P0CS63, P10925, P15822, P17010, P17012, P20662, P22227, P25490, P31509, P31629, P36197, P52739, P56270, P56670, P56671, P60319, Q00899, Q00900
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 43 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 |
|---|---|---|---|
| NuRD complex assembly | 5 | 27.1× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chromatin remodeling | 5 | 9.3× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
745 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:179327632:G:GG | donor_gain | 1.0000 |
| 3:179328273:C:A | acceptor_gain | 1.0000 |
| 3:179328278:TTTA:T | acceptor_loss | 1.0000 |
| 3:179328279:TTAG:T | acceptor_loss | 1.0000 |
| 3:179328280:TA:T | acceptor_loss | 1.0000 |
| 3:179328281:A:AG | acceptor_gain | 1.0000 |
| 3:179328282:G:GA | acceptor_gain | 1.0000 |
| 3:179328282:GAT:G | acceptor_gain | 1.0000 |
| 3:179328282:GATT:G | acceptor_gain | 1.0000 |
| 3:179328349:CAGG:C | donor_loss | 1.0000 |
| 3:179328350:AGGTC:A | donor_loss | 1.0000 |
| 3:179328352:G:A | donor_loss | 1.0000 |
| 3:179328353:T:G | donor_loss | 1.0000 |
| 3:179329610:A:AG | acceptor_gain | 1.0000 |
| 3:179329611:T:G | acceptor_gain | 1.0000 |
| 3:179329612:GTTCA:G | acceptor_loss | 1.0000 |
| 3:179329614:TCAG:T | acceptor_loss | 1.0000 |
| 3:179329615:CA:C | acceptor_loss | 1.0000 |
| 3:179329616:A:AG | acceptor_gain | 1.0000 |
| 3:179329616:AGA:A | acceptor_loss | 1.0000 |
| 3:179329617:G:GG | acceptor_gain | 1.0000 |
| 3:179329617:G:GT | acceptor_loss | 1.0000 |
| 3:179329724:CAAAG:C | donor_loss | 1.0000 |
| 3:179329725:AAAGG:A | donor_loss | 1.0000 |
| 3:179329726:AAGGT:A | donor_loss | 1.0000 |
| 3:179329727:AG:A | donor_loss | 1.0000 |
| 3:179329728:GG:G | donor_loss | 1.0000 |
| 3:179329729:G:GA | donor_loss | 1.0000 |
| 3:179329730:T:A | donor_loss | 1.0000 |
| 3:179332983:TTACA:T | acceptor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000181287 (3:179327958 T>C,G), RS1000412720 (3:179327198 A>G), RS1000465009 (3:179326960 TGG>T), RS1000630852 (3:179332932 A>C,G), RS1000661897 (3:179332503 A>G), RS1000678846 (3:179332911 TAA>T), RS1000788363 (3:179326785 C>A), RS1000937740 (3:179321622 T>C), RS1000944913 (3:179338262 G>A), RS1001072997 (3:179322046 T>C), RS1001326835 (3:179323213 C>A,G), RS1001519785 (3:179327869 G>A), RS1001534535 (3:179327543 T>C), RS1001619768 (3:179331516 C>A,T), RS1001652253 (3:179337733 A>G)
Disease associations
OMIM: gene MIM:619214 | disease phenotypes: MIM:158350
GenCC curated gene-disease
Mondo (1): Cowden disease (MONDO:0016063)
Orphanet (1): Cowden syndrome (Orphanet:201)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007059_17 | Response to antidepressants (symptom improvement) | 3.000000e-06 |
| GCST010273_7 | Gout (normal type) | 5.000000e-07 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006223 | Hamartoma Syndrome, Multiple | C04.445.435; C04.651.435; C04.700.435; C16.320.700.435 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation, affects expression | 4 |
| Cadmium Chloride | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| cinnamaldehyde | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Vehicle Emissions | increases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Quercetin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 1 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HA06 | K562 eGFP-ZNF639 | Cancer cell line | Female |
| CVCL_HD35 | HEK293 eGFP-ZNF639 | Transformed cell line | Female |
Clinical trials (associated diseases)
13 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03306446 | PHASE4 | UNKNOWN | Changing the coUrse of cRohn’s Disease With an Early Use of Adalimumab |
| NCT00971789 | PHASE2 | COMPLETED | Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes |
| NCT04094675 | PHASE2 | COMPLETED | Sirolimus for Cowden Syndrome With Colon Polyposis |
| NCT00620594 | PHASE1 | COMPLETED | A Phase I/II Study of BEZ235 in Patients With Advanced Solid Malignancies Enriched by Patients With Advanced Breast Cancer |
| NCT01757964 | PHASE1 | COMPLETED | Bacteriotherapy in Pediatric Inflammatory Bowel Disease |
| NCT07218575 | PHASE2/PHASE3 | NOT_YET_RECRUITING | Double-Blind Trial of Everolimus for Improving Social Abilities in PTEN Germline Mutations |
| NCT00600275 | PHASE1/PHASE2 | COMPLETED | A Phase I/II Study of BGT226 in Adult Patients With Advanced Solid Malignancies Including Patients With Advanced Breast Cancer |
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| NCT03487900 | Not specified | UNKNOWN | Is the Endoscopic Remission Evaluation, Using the CREDO 1 Index / Score in CD Patients in Clinical Remission at Baseline, Predictive of Sustained Clinical Remission Using a 2-year Follow up |
| NCT03498625 | Not specified | COMPLETED | Crohn’s Disease Endoscopic REmission Definition in an Objective Way |
| NCT03702309 | Not specified | RECRUITING | Liquid Biopsy Evaluation and Repository Development at Princess Margaret |
| NCT06163365 | Not specified | UNKNOWN | Inherited Cancer Early Diagnosis (ICED) Study |
| NCT06523582 | Not specified | RECRUITING | Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Cowden disease