ZNF48
gene geneOn this page
Also known as DKFZp762K013FLJ31751MGC43952
Summary
ZNF48 (zinc finger protein 48, HGNC:13114) is a protein-coding gene on chromosome 16p11.2, encoding Zinc finger protein 48 (Q96MX3). May be involved in transcriptional regulation.
Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 197407 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 93 total
- MANE Select transcript:
NM_001214909
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13114 |
| Approved symbol | ZNF48 |
| Name | zinc finger protein 48 |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp762K013, FLJ31751, MGC43952 |
| Ensembl gene | ENSG00000180035 |
| Ensembl biotype | protein_coding |
| Entrez | 197407 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000320159, ENST00000495929, ENST00000528032, ENST00000613509, ENST00000622647, ENST00000872220
RefSeq mRNA: 5 — MANE Select: NM_001214909
NM_001214906, NM_001214907, NM_001214909, NM_001324494, NM_152652
CCDS: CCDS10679, CCDS73868
Canonical transcript exons
ENST00000613509 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001221414 | 30397330 | 30400108 |
| ENSE00001914699 | 30395420 | 30395578 |
| ENSE00002190040 | 30395780 | 30395873 |
Expression profiles
Bgee: expression breadth ubiquitous, 220 present calls, max score 88.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7967 / max 61.3257, expressed in 1688 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 153654 | 6.9379 | 1595 |
| 153650 | 0.9244 | 481 |
| 153649 | 0.8250 | 471 |
| 153653 | 0.7185 | 283 |
| 153655 | 0.3909 | 214 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 88.82 | gold quality |
| endothelial cell | CL:0000115 | 87.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.46 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 85.46 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 84.35 | silver quality |
| pancreatic ductal cell | CL:0002079 | 83.82 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.53 | gold quality |
| tibialis anterior | UBERON:0001385 | 82.92 | silver quality |
| prefrontal cortex | UBERON:0000451 | 81.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.70 | gold quality |
| cerebellar vermis | UBERON:0004720 | 80.44 | silver quality |
| primary visual cortex | UBERON:0002436 | 80.13 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 80.01 | silver quality |
| quadriceps femoris | UBERON:0001377 | 79.82 | gold quality |
| medial globus pallidus | UBERON:0002477 | 79.81 | gold quality |
| ileal mucosa | UBERON:0000331 | 79.51 | gold quality |
| frontal cortex | UBERON:0001870 | 79.42 | gold quality |
| globus pallidus | UBERON:0001875 | 79.10 | gold quality |
| ventricular zone | UBERON:0003053 | 78.86 | gold quality |
| granulocyte | CL:0000094 | 78.81 | gold quality |
| occipital lobe | UBERON:0002021 | 78.81 | gold quality |
| neocortex | UBERON:0001950 | 78.80 | gold quality |
| deltoid | UBERON:0001476 | 78.64 | silver quality |
| vastus lateralis | UBERON:0001379 | 78.54 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.23 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 78.12 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 78.02 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 77.74 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 77.51 | gold quality |
| cerebral cortex | UBERON:0000956 | 77.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting ZNF48, 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-6843-3P | 99.26 | 66.42 | 915 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-622 | 98.99 | 66.48 | 1050 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-3189-5P | 97.55 | 66.71 | 655 |
| HSA-MIR-4676-5P | 97.54 | 65.29 | 715 |
| HSA-MIR-575 | 97.54 | 65.18 | 718 |
| HSA-MIR-10400-3P | 97.29 | 64.66 | 597 |
| HSA-MIR-4674 | 97.29 | 64.62 | 597 |
| HSA-MIR-4749-3P | 96.40 | 66.24 | 798 |
| HSA-MIR-24-1-5P | 95.57 | 65.85 | 492 |
| HSA-MIR-24-2-5P | 95.57 | 66.16 | 484 |
| HSA-MIR-3605-3P | 82.57 | 60.78 | 98 |
Cross-species orthologs
13 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf646 | ENSDARG00000061424 |
| danio_rerio | si:dkey-89b17.4 | ENSDARG00000075545 |
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| danio_rerio | si:ch211-148l7.4 | ENSDARG00000094469 |
| danio_rerio | znf576.1 | ENSDARG00000097819 |
| mus_musculus | Zfp553 | ENSMUSG00000045598 |
| rattus_norvegicus | Znf48 | ENSRNOG00000017837 |
| drosophila_melanogaster | az2 | FBGN0025185 |
| drosophila_melanogaster | CG2129 | FBGN0030008 |
| drosophila_melanogaster | CG1602 | FBGN0033186 |
| drosophila_melanogaster | indra | FBGN0035213 |
| drosophila_melanogaster | CG30020 | FBGN0050020 |
| drosophila_melanogaster | mld | FBGN0263490 |
Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)
Protein
Protein identifiers
Zinc finger protein 48 — Q96MX3 (reviewed: Q96MX3)
Alternative names: Zinc finger protein 553
All UniProt accessions (3): A0A087WVT1, E9PJ50, Q96MX3
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 (5): NP_001201835, NP_001201836, NP_001201838, NP_001311423, NP_689865 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (41 total): zinc finger region 12, sequence conflict 7, region of interest 6, cross-link 6, compositionally biased region 5, sequence variant 3, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96MX3-F1 | 62.49 | 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 (7): 1, 87, 179, 269, 329, 477, 610
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 75 (showing top):
GGAANCGGAANY_UNKNOWN, chr16p11, SCGGAAGY_ELK1_02, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MTF1_Q4, KRIEG_HYPOXIA_NOT_VIA_KDM3A, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ATF6_TARGET_GENES, BARX1_TARGET_GENES, DLX6_TARGET_GENES, ELF2_TARGET_GENES, FOXD2_TARGET_GENES, NAB2_TARGET_GENES, SNIP1_TARGET_GENES, TEAD2_TARGET_GENES
GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (5): DNA binding (GO:0003677), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
586 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF48 | C8orf33 | Q9H7E9 | 444 |
| ZNF48 | KAT8 | Q9H7Z6 | 437 |
| ZNF48 | AAMP | Q13685 | 430 |
| ZNF48 | GORASP1 | Q9BQQ3 | 392 |
| ZNF48 | ZNF438 | Q7Z4V0 | 367 |
| ZNF48 | PLB1 | Q6P1J6 | 338 |
| ZNF48 | RWDD1 | Q9H446 | 338 |
| ZNF48 | NOL3 | O60936 | 332 |
| ZNF48 | ZNF827 | Q17R98 | 323 |
| ZNF48 | ZNF428 | Q96B54 | 319 |
| ZNF48 | NKAPL | Q5M9Q1 | 319 |
| ZNF48 | NASP | P49321 | 314 |
| ZNF48 | SCARF2 | Q96GP6 | 311 |
| ZNF48 | RBM27 | Q9P2N5 | 307 |
| ZNF48 | CCDC97 | Q96F63 | 306 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MORF4L2 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF48 | APOBEC3C | psi-mi:“MI:0915”(physical association) | 0.670 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| PRPF31 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BYSL | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIF3E | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTUS2 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF792 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF48 | OSBPL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SF3B4 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOOK2 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP55 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TACC1 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM41 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLE5 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF48 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF774 | ZNF48 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF48 | FNDC11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (179): ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-MS), ZNF48 (Affinity Capture-RNA), ZNF48 (Affinity Capture-MS), ZNF48 (Two-hybrid), ZNF48 (Two-hybrid)
ESM2 similar proteins: A1L0T3, A1L4H1, A6QNY1, D3YZF7, O95428, P28698, P30203, P55068, P55106, P59222, P98162, Q04756, Q14767, Q28019, Q28062, Q28256, Q28343, Q28670, Q3U515, Q4G0T1, Q5F378, Q5HZW5, Q61003, Q61361, Q6H9L7, Q6KF10, Q6PGE4, Q6QNF4, Q7TQH7, Q7Z4F1, Q86T13, Q86VR7, Q86VZ4, Q8BV57, Q8BZE1, Q8CB67, Q8VCP9, Q8WTU2, Q91V98, Q96DN2
Diamond homologs: A1L2U9, A2A884, A2ANX9, A7Y7X5, B0X9H6, B0YDH7, B1WAZ8, B1WBU4, E9PW05, E9PZZ1, G5EBU4, O15391, O60315, O62836, O75362, O77459, O95863, P08048, P0CS62, P0CS63, P10925, P15822, P17010, P17012, P20662, P22227, P25490, P28166, P31509, P31629, P36197, P52739, P52746, P56270, P56670, P56671, P60319, P80944, Q00899, Q00900
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 76 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 |
|---|---|---|---|
| Peptide chain elongation | 8 | 21.6× | 6e-08 |
| Viral mRNA Translation | 8 | 21.6× | 6e-08 |
| Formation of a pool of free 40S subunits | 9 | 21.4× | 2e-08 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 8 | 21.4× | 6e-08 |
| Selenocysteine synthesis | 8 | 20.5× | 6e-08 |
| Eukaryotic Translation Termination | 8 | 20.5× | 6e-08 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 8 | 20.0× | 6e-08 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 8 | 20.0× | 6e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 8 | 22.1× | 1e-06 |
| negative regulation of translation | 6 | 17.6× | 1e-04 |
| rRNA processing | 8 | 16.9× | 5e-06 |
| translation | 8 | 12.3× | 4e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2459 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:30378697:CTTA:C | acceptor_gain | 1.0000 |
| 16:30378698:TTA:T | acceptor_gain | 1.0000 |
| 16:30378699:TA:T | acceptor_gain | 1.0000 |
| 16:30378701:C:CC | acceptor_gain | 1.0000 |
| 16:30378705:G:T | acceptor_gain | 1.0000 |
| 16:30378709:CAG:C | acceptor_gain | 1.0000 |
| 16:30378710:A:T | acceptor_gain | 1.0000 |
| 16:30378711:G:C | acceptor_gain | 1.0000 |
| 16:30378711:G:GC | acceptor_gain | 1.0000 |
| 16:30379013:CTCA:C | donor_loss | 1.0000 |
| 16:30379014:TCA:T | donor_loss | 1.0000 |
| 16:30379016:ACC:A | donor_loss | 1.0000 |
| 16:30379017:C:CA | donor_loss | 1.0000 |
| 16:30379179:CTCCA:C | acceptor_gain | 1.0000 |
| 16:30379180:TCCA:T | acceptor_gain | 1.0000 |
| 16:30379181:CCA:C | acceptor_gain | 1.0000 |
| 16:30379181:CCAC:C | acceptor_gain | 1.0000 |
| 16:30379182:CA:C | acceptor_gain | 1.0000 |
| 16:30379182:CAC:C | acceptor_gain | 1.0000 |
| 16:30379184:C:CC | acceptor_gain | 1.0000 |
| 16:30379912:T:A | donor_gain | 1.0000 |
| 16:30379930:ACC:A | donor_loss | 1.0000 |
| 16:30379931:C:CG | donor_loss | 1.0000 |
| 16:30379945:T:TA | donor_gain | 1.0000 |
| 16:30380036:C:CT | acceptor_gain | 1.0000 |
| 16:30380037:A:T | acceptor_gain | 1.0000 |
| 16:30381123:A:AC | donor_gain | 1.0000 |
| 16:30381124:C:CC | donor_gain | 1.0000 |
| 16:30381124:CA:C | donor_gain | 1.0000 |
| 16:30381387:T:TA | donor_gain | 1.0000 |
AlphaMissense
4009 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:30397611:T:C | F121L | 0.999 |
| 16:30397613:C:A | F121L | 0.999 |
| 16:30397613:C:G | F121L | 0.999 |
| 16:30397674:T:C | C142R | 0.999 |
| 16:30397695:T:C | F149L | 0.999 |
| 16:30397696:T:C | F149S | 0.999 |
| 16:30397697:T:A | F149L | 0.999 |
| 16:30397697:T:G | F149L | 0.999 |
| 16:30397851:T:C | F201L | 0.999 |
| 16:30397852:T:C | F201S | 0.999 |
| 16:30397853:C:A | F201L | 0.999 |
| 16:30397853:C:G | F201L | 0.999 |
| 16:30397935:T:C | F229L | 0.999 |
| 16:30397936:T:C | F229S | 0.999 |
| 16:30397937:T:A | F229L | 0.999 |
| 16:30397937:T:G | F229L | 0.999 |
| 16:30398100:T:C | F284L | 0.999 |
| 16:30398102:T:A | F284L | 0.999 |
| 16:30398102:T:G | F284L | 0.999 |
| 16:30398184:T:C | F312L | 0.999 |
| 16:30398185:T:C | F312S | 0.999 |
| 16:30398186:T:A | F312L | 0.999 |
| 16:30398186:T:G | F312L | 0.999 |
| 16:30398247:T:C | C333R | 0.999 |
| 16:30398268:T:C | F340L | 0.999 |
| 16:30398269:T:C | F340S | 0.999 |
| 16:30398270:C:A | F340L | 0.999 |
| 16:30398270:C:G | F340L | 0.999 |
| 16:30398607:T:C | C453R | 0.999 |
| 16:30398628:T:C | F460L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000065551 (16:30389604 C>T), RS1000165138 (16:30395177 G>A,T), RS1000206884 (16:30390776 A>G), RS1000239297 (16:30390413 T>C,G), RS1000385193 (16:30377214 CA>C,CAA), RS1000416774 (16:30389189 C>G), RS1000626290 (16:30383346 G>A,T), RS1000665259 (16:30400577 C>A), RS1000670604 (16:30382523 A>C), RS1000866840 (16:30393912 T>A,G), RS1001017529 (16:30387930 A>G), RS1001093791 (16:30394551 C>T), RS1001205929 (16:30396218 T>C), RS1001217853 (16:30396511 G>A,T), RS1001465514 (16:30383435 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_269 | Brain morphology (MOSTest) | 4.000000e-13 |
| GCST010796_3833 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST010796_3834 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004327 | electrocardiography |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| bisphenol A | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Acetaminophen | increases expression | 1 |
| Lead | affects expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Gold Compounds | increases methylation, decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_XW50 | HEK293 eGFP-ZNF48 | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.