ZNF532
gene geneOn this page
Also known as FLJ10697
Summary
ZNF532 (zinc finger protein 532, HGNC:30940) is a protein-coding gene on chromosome 18q21.32, encoding Zinc finger protein 532 (Q9HCE3). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.
Source: NCBI Gene 55205 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 141 total
- MANE Select transcript:
NM_001375912
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30940 |
| Approved symbol | ZNF532 |
| Name | zinc finger protein 532 |
| Location | 18q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10697 |
| Ensembl gene | ENSG00000074657 |
| Ensembl biotype | protein_coding |
| OMIM | 619066 |
| Entrez | 55205 |
Gene structure
Transcript identifiers
Ensembl transcripts: 49 — 39 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron
ENST00000336078, ENST00000585662, ENST00000586085, ENST00000586158, ENST00000586723, ENST00000586997, ENST00000587755, ENST00000588456, ENST00000588543, ENST00000588601, ENST00000588956, ENST00000589131, ENST00000589156, ENST00000589288, ENST00000589403, ENST00000589481, ENST00000590157, ENST00000590285, ENST00000590287, ENST00000590442, ENST00000591049, ENST00000591083, ENST00000591230, ENST00000591808, ENST00000592249, ENST00000592452, ENST00000885936, ENST00000929495, ENST00000929496, ENST00000929497, ENST00000929498, ENST00000929499, ENST00000929500, ENST00000929501, ENST00000929502, ENST00000929503, ENST00000929504, ENST00000929505, ENST00000929506, ENST00000929507, ENST00000929508, ENST00000929509, ENST00000953209, ENST00000953210, ENST00000953211, ENST00000953212, ENST00000953213, ENST00000953214, ENST00000953215
RefSeq mRNA: 20 — MANE Select: NM_001375912
NM_001318726, NM_001318727, NM_001318728, NM_001353525, NM_001353526, NM_001353527, NM_001353528, NM_001353529, NM_001353530, NM_001353531, NM_001353532, NM_001353533, NM_001353534, NM_001353535, NM_001353536, NM_001353537, NM_001353538, NM_001375912, NM_001375913, NM_018181
CCDS: CCDS11969
Canonical transcript exons
ENST00000591808 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000669809 | 58948067 | 58948229 |
| ENSE00001256111 | 58934433 | 58934614 |
| ENSE00001313222 | 58983972 | 58986480 |
| ENSE00001647962 | 58865470 | 58865579 |
| ENSE00001713278 | 58918271 | 58920633 |
| ENSE00002933826 | 58864877 | 58865385 |
| ENSE00003490000 | 58953518 | 58953799 |
| ENSE00003654855 | 58939445 | 58939621 |
| ENSE00003694450 | 58979055 | 58979167 |
| ENSE00003791368 | 58981470 | 58981617 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 98.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9743 / max 540.0383, expressed in 1436 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170443 | 3.0012 | 669 |
| 170437 | 2.2062 | 1035 |
| 170441 | 2.0008 | 469 |
| 170434 | 1.7549 | 576 |
| 170442 | 0.6698 | 260 |
| 170438 | 0.6105 | 312 |
| 170435 | 0.4316 | 226 |
| 170439 | 0.3904 | 187 |
| 170436 | 0.3014 | 128 |
| 170440 | 0.2285 | 119 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 98.06 | gold quality |
| sural nerve | UBERON:0015488 | 98.04 | gold quality |
| ventricular zone | UBERON:0003053 | 97.78 | gold quality |
| cortical plate | UBERON:0005343 | 97.47 | gold quality |
| corpus callosum | UBERON:0002336 | 97.45 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.26 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.21 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.19 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.18 | gold quality |
| cerebellum | UBERON:0002037 | 97.06 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.44 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.42 | gold quality |
| ascending aorta | UBERON:0001496 | 96.38 | gold quality |
| embryo | UBERON:0000922 | 96.32 | gold quality |
| prostate gland | UBERON:0002367 | 96.21 | gold quality |
| aorta | UBERON:0000947 | 96.04 | gold quality |
| tibial nerve | UBERON:0001323 | 95.96 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.84 | gold quality |
| popliteal artery | UBERON:0002250 | 95.76 | gold quality |
| muscle of leg | UBERON:0001383 | 95.75 | gold quality |
| tibial artery | UBERON:0007610 | 95.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.73 | gold quality |
| body of uterus | UBERON:0009853 | 95.65 | gold quality |
| tendon | UBERON:0000043 | 95.38 | gold quality |
| left ovary | UBERON:0002119 | 95.23 | gold quality |
| right coronary artery | UBERON:0001625 | 95.16 | gold quality |
| ovary | UBERON:0000992 | 94.78 | gold quality |
| right ovary | UBERON:0002118 | 94.77 | gold quality |
| inferior olivary complex | UBERON:0002127 | 94.63 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.34 |
| E-MTAB-6142 | no | 46.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
111 targeting ZNF532, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
Literature-anchored findings (GeneRIF, showing 5)
- The authors discovered ZNF532 associated with BRD4-NUT in NMC patient cells. ChIP sequencing revealed the formation of ZNF532-NUT-associated hyperacetylated megadomains, distinctly localized but otherwise analogous to those found in BRD4-NUT patient cells. (PMID:28484033)
- CircZNF532 knockdown protects retinal pigment epithelial cells against high glucose-induced apoptosis and pyroptosis by regulating the miR-20b-5p/STAT3 axis. (PMID:34839589)
- NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion. (PMID:35064291)
- Foxhead box D1 promotes the partial epithelial-to-mesenchymal transition of laryngeal squamous cell carcinoma cells via transcriptionally activating the expression of zinc finger protein 532. (PMID:35112956)
- circZNF532 promotes endothelial-to-mesenchymal transition in diabetic retinopathy by recruiting TAF15 to stabilize PIK3CD. (PMID:38811189)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf532 | ENSDARG00000052894 |
| mus_musculus | Zfp532 | ENSMUSG00000042439 |
| rattus_norvegicus | Zfp532 | ENSRNOG00000017116 |
| drosophila_melanogaster | CG9609 | FBGN0030787 |
| caenorhabditis_elegans | WBGENE00009866 | |
| caenorhabditis_elegans | M04C9.4 | WBGENE00010859 |
| caenorhabditis_elegans | WBGENE00011710 | |
| caenorhabditis_elegans | WBGENE00012969 | |
| caenorhabditis_elegans | F57C9.4 | WBGENE00019011 |
| caenorhabditis_elegans | WBGENE00019589 | |
| caenorhabditis_elegans | WBGENE00022016 | |
| caenorhabditis_elegans | WBGENE00271744 |
Paralogs (2): ZNF200 (ENSG00000010539), KRBOX1 (ENSG00000240747)
Protein
Protein identifiers
Zinc finger protein 532 — Q9HCE3 (reviewed: Q9HCE3)
All UniProt accessions (15): Q9HCE3, K7EIU3, K7EJM2, K7EKV7, K7EL14, K7ELB7, K7ELQ2, K7EMF9, K7EN67, K7EP49, K7EPI7, K7EQN0, K7EQW7, K7ER18, K7ES47
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (20): NP_001305655, NP_001305656, NP_001305657, NP_001340454, NP_001340455, NP_001340456, NP_001340457, NP_001340458, NP_001340459, NP_001340460, NP_001340461, NP_001340462, NP_001340463, NP_001340464, NP_001340465, NP_001340466, NP_001340467, NP_001362841, NP_001362842, NP_060651 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR041697 | Znf-C2H2_11 | Domain |
| IPR045914 | Zn532-like | Family |
| IPR057356 | Znf-C2H2_ZNF592 | Domain |
Pfam: PF13912, PF16622, PF25412
UniProt features (48 total): zinc finger region 12, compositionally biased region 12, modified residue 10, region of interest 5, cross-link 5, sequence variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCE3-F1 | 53.86 | 0.08 |
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 (15): 130, 133, 134, 175, 205, 252, 307, 314, 434, 1140, 459, 516, 980, 1144, 1167
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9940951 | Interaction of NuRD complexes with transcription factors |
MSigDB gene sets: 207 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, CHANDRAN_METASTASIS_DN, SREBP1_02, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, CEBALLOS_TARGETS_OF_TP53_AND_MYC_UP, CATTTCA_MIR203, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, TGCTGAY_UNKNOWN, GRE_C, AIYAR_COBRA1_TARGETS_DN, GGGNNTTTCC_NFKB_Q6_01, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP
GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (4): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| NuRD complex assembly | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
760 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF532 | NUTM1 | Q86Y26 | 781 |
| ZNF532 | NSD3 | Q9BZ95 | 769 |
| ZNF532 | BRD3 | Q15059 | 751 |
| ZNF532 | BRD4 | O60885 | 715 |
| ZNF532 | ZMYND8 | Q9ULU4 | 682 |
| ZNF532 | ZNF592 | Q92610 | 612 |
| ZNF532 | TAF13 | Q15543 | 490 |
| ZNF532 | GTF2E2 | P29084 | 462 |
| ZNF532 | ZNF687 | Q8N1G0 | 456 |
| ZNF532 | MXD4 | Q14582 | 453 |
| ZNF532 | ANKH | Q9HCJ1 | 448 |
| ZNF532 | COL4A4 | P53420 | 442 |
| ZNF532 | MXD1 | Q05195 | 431 |
| ZNF532 | ZNF800 | Q2TB10 | 430 |
| ZNF532 | SLC52A3 | Q9NQ40 | 420 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MBD3 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.730 |
| KPNA4 | ZNF532 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ERBB2 | ZNF532 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ERBB3 | ZNF532 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ERBB4 | ZNF532 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KDM5C | CSNK2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZMYND8 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | NCAN | psi-mi:“MI:0914”(association) | 0.350 |
| PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BTG3 | ZNF532 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (25): ZNF532 (Affinity Capture-MS), ZNF532 (Affinity Capture-MS), ZNF532 (Affinity Capture-RNA), ZNF532 (Affinity Capture-MS), ZNF532 (Affinity Capture-RNA), ZNF532 (Two-hybrid), ZNF532 (Two-hybrid), ZNF532 (Two-hybrid), ZNF532 (Affinity Capture-MS), ZNF532 (Affinity Capture-MS), ZNF532 (Protein-peptide), ZNF532 (Proximity Label-MS), ZNF532 (Proximity Label-MS), ZNF532 (Proximity Label-MS), ZNF532 (Proximity Label-MS)
ESM2 similar proteins: A0A1L8GR68, A2CG63, A2VE56, D3ZHS6, E6ZGB4, F7AQ22, O75376, O88974, P0C6S7, P57768, P57769, Q15047, Q2YDJ8, Q2YDW7, Q4KKX4, Q4LE39, Q52L14, Q5F3F2, Q5F3N6, Q5FWF5, Q5R6Q7, Q5VVJ2, Q60974, Q66JB6, Q68FE8, Q69Z61, Q69Z66, Q69Z69, Q6N043, Q6NXK2, Q7Z6G8, Q86YI8, Q8BIZ1, Q8C080, Q8K2W6, Q8QFX1, Q92560, Q96N64, Q98925, Q99PU7
Diamond homologs: A0A0R4IYX6, F6NSX9, Q6NXK2, Q8BHZ4, Q8N1G0, Q92610, Q9D2D7, Q9HCE3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 14 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 |
|---|---|---|---|
| PIP3 activates AKT signaling | 5 | 25.7× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
141 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 110 |
| Likely benign | 12 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3184 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:58916653:C:CG | donor_gain | 1.0000 |
| 18:58916653:C:G | donor_gain | 1.0000 |
| 18:58920627:TGGAC:T | donor_gain | 1.0000 |
| 18:58939439:TAACA:T | acceptor_loss | 1.0000 |
| 18:58939440:AACAG:A | acceptor_loss | 1.0000 |
| 18:58939441:ACAGA:A | acceptor_loss | 1.0000 |
| 18:58939442:CAGAT:C | acceptor_loss | 1.0000 |
| 18:58939443:A:AG | acceptor_gain | 1.0000 |
| 18:58939444:G:GG | acceptor_gain | 1.0000 |
| 18:58939444:GAT:G | acceptor_gain | 1.0000 |
| 18:58939444:GATGT:G | acceptor_gain | 1.0000 |
| 18:58939617:CCAAA:C | donor_gain | 1.0000 |
| 18:58939619:AAA:A | donor_gain | 1.0000 |
| 18:58939619:AAAGT:A | donor_loss | 1.0000 |
| 18:58939620:AA:A | donor_gain | 1.0000 |
| 18:58939621:AGT:A | donor_loss | 1.0000 |
| 18:58939622:G:A | donor_loss | 1.0000 |
| 18:58939622:G:GG | donor_gain | 1.0000 |
| 18:58939623:TAA:T | donor_loss | 1.0000 |
| 18:58953517:GTCT:G | acceptor_gain | 1.0000 |
| 18:58979052:CA:C | acceptor_loss | 1.0000 |
| 18:58979053:A:AG | acceptor_gain | 1.0000 |
| 18:58979053:A:AT | acceptor_loss | 1.0000 |
| 18:58979054:G:GT | acceptor_gain | 1.0000 |
| 18:58979054:GC:G | acceptor_gain | 1.0000 |
| 18:58979054:GCA:G | acceptor_gain | 1.0000 |
| 18:58979054:GCAA:G | acceptor_gain | 1.0000 |
| 18:58979054:GCAAA:G | acceptor_gain | 1.0000 |
| 18:58979056:A:AG | acceptor_gain | 1.0000 |
| 18:58979057:A:G | acceptor_gain | 1.0000 |
AlphaMissense
8617 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:58918312:C:A | P9T | 1.000 |
| 18:58918312:C:T | P9S | 1.000 |
| 18:58918313:C:A | P9Q | 1.000 |
| 18:58918313:C:G | P9R | 1.000 |
| 18:58918313:C:T | P9L | 1.000 |
| 18:58918315:G:C | D10H | 1.000 |
| 18:58918315:G:T | D10Y | 1.000 |
| 18:58918316:A:C | D10A | 1.000 |
| 18:58918316:A:G | D10G | 1.000 |
| 18:58918316:A:T | D10V | 1.000 |
| 18:58918318:T:C | F11L | 1.000 |
| 18:58918318:T:G | F11V | 1.000 |
| 18:58918319:T:C | F11S | 1.000 |
| 18:58918319:T:G | F11C | 1.000 |
| 18:58918320:T:A | F11L | 1.000 |
| 18:58918320:T:G | F11L | 1.000 |
| 18:58918321:G:A | D12N | 1.000 |
| 18:58918321:G:C | D12H | 1.000 |
| 18:58918321:G:T | D12Y | 1.000 |
| 18:58918322:A:C | D12A | 1.000 |
| 18:58918322:A:G | D12G | 1.000 |
| 18:58918322:A:T | D12V | 1.000 |
| 18:58918323:T:A | D12E | 1.000 |
| 18:58918323:T:G | D12E | 1.000 |
| 18:58918324:G:A | D13N | 1.000 |
| 18:58918324:G:C | D13H | 1.000 |
| 18:58918324:G:T | D13Y | 1.000 |
| 18:58918325:A:C | D13A | 1.000 |
| 18:58918325:A:G | D13G | 1.000 |
| 18:58918325:A:T | D13V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000069462 (18:58973352 C>T), RS1000096945 (18:58886777 A>G), RS1000108272 (18:58968082 T>C), RS1000113959 (18:58930360 C>G,T), RS1000149254 (18:58886388 G>T), RS1000171197 (18:58979635 G>A,C), RS1000247219 (18:58938044 A>G), RS1000257986 (18:58892484 C>T), RS1000276026 (18:58915047 C>G,T), RS1000301806 (18:58949144 T>G), RS1000321331 (18:58937721 G>T), RS1000323514 (18:58877488 A>G), RS1000357688 (18:58944138 C>T), RS1000364534 (18:58967050 A>C), RS1000379875 (18:58898509 T>G)
Disease associations
OMIM: gene MIM:619066 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003008_12 | Triptolide cytotoxicity | 8.000000e-07 |
| GCST003181_7 | Staphylococcus aureus nasal carriage (intermittent) | 7.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006952 | cytotoxicity measurement |
| EFO:0007758 | intermittent Staphylococcus aureus carrier status |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| (+)-JQ1 compound | decreases expression | 3 |
| Valproic Acid | decreases expression, increases expression | 3 |
| bisphenol S | increases expression, affects cotreatment, decreases methylation | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | increases oxidation, affects cotreatment, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
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.