ZNF304
gene geneOn this page
Summary
ZNF304 (zinc finger protein 304, HGNC:13505) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 304 (Q9HCX3). Acts as a transcriptional regulator and plays a role in gene silencing.
This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein functions as a transcriptional repressor that recruits a corepressor complex to stimulate promoter hypermethylation and transcriptional silencing of target genes. Expression of this gene is upregulated in colorectal, ovarian and breast cancer, and this gene may promote cancer cell survival, growth and invasion.
Source: NCBI Gene 57343 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 99 total
- MANE Select transcript:
NM_020657
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13505 |
| Approved symbol | ZNF304 |
| Name | zinc finger protein 304 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000131845 |
| Ensembl biotype | protein_coding |
| OMIM | 613840 |
| Entrez | 57343 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000282286, ENST00000391705, ENST00000443917, ENST00000598744
RefSeq mRNA: 4 — MANE Select: NM_020657
NM_001290318, NM_001290319, NM_001329456, NM_020657
CCDS: CCDS12950, CCDS74462, CCDS77365
Canonical transcript exons
ENST00000282286 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000822478 | 57356030 | 57359898 |
| ENSE00003488071 | 57353725 | 57353851 |
| ENSE00003902381 | 57351271 | 57351697 |
Expression profiles
Bgee: expression breadth ubiquitous, 266 present calls, max score 92.07.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6678 / max 47.4555, expressed in 1631 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177768 | 4.6678 | 1631 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 92.07 | gold quality |
| oocyte | CL:0000023 | 84.78 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.71 | gold quality |
| cortical plate | UBERON:0005343 | 82.74 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.75 | gold quality |
| ganglionic eminence | UBERON:0004023 | 79.98 | gold quality |
| cerebellar cortex | UBERON:0002129 | 78.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 78.33 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.29 | gold quality |
| ventricular zone | UBERON:0003053 | 78.04 | gold quality |
| cerebellum | UBERON:0002037 | 77.95 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 77.47 | gold quality |
| adrenal tissue | UBERON:0018303 | 77.35 | gold quality |
| apex of heart | UBERON:0002098 | 77.24 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 77.03 | gold quality |
| amniotic fluid | UBERON:0000173 | 76.93 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 76.83 | gold quality |
| heart left ventricle | UBERON:0002084 | 76.69 | gold quality |
| islet of Langerhans | UBERON:0000006 | 76.66 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 76.59 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 76.57 | gold quality |
| cardiac ventricle | UBERON:0002082 | 76.56 | gold quality |
| left adrenal gland | UBERON:0001234 | 76.54 | gold quality |
| adrenal gland | UBERON:0002369 | 76.47 | gold quality |
| adrenal cortex | UBERON:0001235 | 76.38 | gold quality |
| myocardium | UBERON:0002349 | 76.21 | gold quality |
| biceps brachii | UBERON:0001507 | 75.98 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 75.86 | gold quality |
| lower esophagus | UBERON:0013473 | 75.84 | gold quality |
| heart | UBERON:0000948 | 75.81 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.91 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| CDKN2A | Repression |
| CDKN2B | Repression |
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
72 targeting ZNF304, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
Literature-anchored findings (GeneRIF, showing 3)
- Identification of ZNF304, by AU-motif-directed display method and characterization of its role in lymphocyte activation (PMID:12051768)
- transcriptional regulator of beta1 integrin, promotes cancer cell survival and protects against anoikis in ovarian cancer (PMID:26081979)
- Genome-wide CRISPR knockout screen identifies ZNF304 as a silencer of HIV transcription that promotes viral latency. (PMID:32956422)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zfx | ENSDARG00000074453 |
| danio_rerio | ENSDARG00000098424 | |
| mus_musculus | Zfy2 | ENSMUSG00000000103 |
| mus_musculus | Zfy1 | ENSMUSG00000053211 |
| rattus_norvegicus | Zfy1 | ENSRNOG00000053042 |
Paralogs (38): ZFX (ENSG00000005889), ZBTB11 (ENSG00000066422), ZFAT (ENSG00000066827), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), IKZF5 (ENSG00000095574), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF691 (ENSG00000164011), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF561 (ENSG00000171469), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF551 (ENSG00000204519), ZNF134 (ENSG00000213762), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)
Protein
Protein identifiers
Zinc finger protein 304 — Q9HCX3 (reviewed: Q9HCX3)
Alternative names: KRAB-containing zinc finger protein
All UniProt accessions (3): E7EQD3, M0QZ59, Q9HCX3
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional regulator and plays a role in gene silencing. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of several tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells. Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) by inducing trimethylation of ‘Lys-27’ of histone H3 (H3K27me3) in a Polycomb group (PcG) complexes-dependent manner. Associates at promoter regions of TSGs and mediates the recruitment of the corepressor complex containing the scaffolding protein TRIM28, methyltransferase DNMT1 and histone methyltransferase SETDB1 and/or the PcG complexes at those sites. Transcription factor involved in the metastatic cascade process by inducing cell migration and proliferation and gain resistance to anoikis of ovarian carcinoma (OC) cells via integrin-mediated signaling pathways. Associates with the ITGB1 promoter and positively regulates beta-1 integrin transcription expression. Promotes angiogenesis. Promotes tumor growth.
Subunit / interactions. Probably part of a corepressor complex containing ZNF304, TRIM28, SETDB1 and DNMT1; leading to promoter hypermethylation and transcriptional silencing. Probably associates with Polycomb group (PcG) complexes; leading to trimethylation of ‘Lys-27’ of histone H3 (H3K27me3). Interacts with USP28.
Subcellular location. Nucleus.
Tissue specificity. Expressed in undifferentiated embryonic stem cells (ESCs). Expressed strongly in colorectal cancers cells (CRCs). Expressed strongly in ovarian carcinoma (OC) tumor cell lines compared to non-transformed ovarian epithelial cells (at protein level). Expressed in lymphoid tissues, thyroid, adrenal gland, prostate, pancreas and skeletal muscles.
Post-translational modifications. Deubiquitinated by USP28; the deubiquitination leads to the stabilization of ZNF304 from proteolytic degradation.
Induction. Down-regulated during embryonic stem cells (ESCs) differentiation by retinoic acid treatment.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (4): NP_001277247, NP_001277248, NP_001316385, NP_065708* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352
UniProt features (23 total): zinc finger region 16, sequence conflict 3, sequence variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCX3-F1 | 65.32 | 0.21 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 89 (showing top):
GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_DNA_METHYLATION_DEPENDENT_CONSTITUTIVE_HETEROCHROMATIN_FORMATION, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_ANOIKIS, GOBP_REGULATION_OF_ANOIKIS, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_EPITHELIAL_CELL_PROLIFERATION, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, DANG_BOUND_BY_MYC, GOBP_INTEGRIN_MEDIATED_SIGNALING_PATHWAY, NOUZOVA_METHYLATED_IN_APL, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT
GO Biological Process (13): negative regulation of transcription by RNA polymerase II (GO:0000122), angiogenesis (GO:0001525), DNA methylation-dependent constitutive heterochromatin formation (GO:0006346), regulation of transcription by RNA polymerase II (GO:0006357), integrin-mediated signaling pathway (GO:0007229), positive regulation of cell migration (GO:0030335), positive regulation of angiogenesis (GO:0045766), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of epithelial cell proliferation (GO:0050679), negative regulation of anoikis (GO:2000811), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), positive regulation of biosynthetic process (GO:0009891)
GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), promoter-specific chromatin binding (GO:1990841), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| negative regulation of DNA-templated transcription | 1 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| constitutive heterochromatin formation | 1 |
| regulation of DNA-templated transcription | 1 |
| cell surface receptor signaling pathway | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| angiogenesis | 1 |
| regulation of angiogenesis | 1 |
| positive regulation of vasculature development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| positive regulation of cell population proliferation | 1 |
| epithelial cell proliferation | 1 |
| regulation of epithelial cell proliferation | 1 |
| negative regulation of apoptotic process | 1 |
| anoikis | 1 |
| regulation of anoikis | 1 |
| cellular component organization | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| biosynthetic process | 1 |
| regulation of biosynthetic process | 1 |
| positive regulation of metabolic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| transition metal ion binding | 1 |
| chromatin binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF304 | DNMT1 | P26358 | 790 |
| ZNF304 | TRIM28 | Q13263 | 623 |
| ZNF304 | SETDB1 | Q15047 | 611 |
| ZNF304 | NICN1 | Q9BSH3 | 463 |
| ZNF304 | TMEM178A | Q8NBL3 | 448 |
| ZNF304 | MAFG | O15525 | 447 |
| ZNF304 | ZC3H4 | Q9UPT8 | 429 |
| ZNF304 | OR8B4 | Q96RC9 | 411 |
| ZNF304 | FBXO48 | Q5FWF7 | 410 |
| ZNF304 | OR5AP2 | Q8NGF4 | 379 |
| ZNF304 | BHLHA9 | Q7RTU4 | 368 |
| ZNF304 | FTSJ3 | Q8IY81 | 361 |
| ZNF304 | TRAT1 | Q6PIZ9 | 360 |
| ZNF304 | FOXD4L6 | Q3SYB3 | 358 |
| ZNF304 | OR1L8 | Q8NGR8 | 358 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAP1LC3A | ZNF304 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ECE1 | ZNF304 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF304 | IPO8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (6): USP28 (Affinity Capture-Western), ZNF304 (Affinity Capture-Western), ZNF304 (Affinity Capture-MS), ZNF304 (Affinity Capture-RNA), TRIM28 (Affinity Capture-Western), ZNF304 (Protein-peptide)
ESM2 similar proteins: A6NDX5, A8MQ14, B7Z6K7, C9JN71, O43361, P0CJ79, P0DKX0, P17017, P17021, P17027, P17035, P17039, P51522, Q02386, Q13106, Q14585, Q3SYV7, Q3ZCX4, Q4R4C7, Q4V348, Q52M93, Q5R9F0, Q5RB30, Q5SXM1, Q6P3V2, Q6P5C7, Q6P9A1, Q6PDB4, Q6ZN06, Q6ZN08, Q6ZN57, Q76KX8, Q7Z340, Q86V71, Q86XN6, Q8N4W9, Q8N7Q3, Q8N8Z8, Q8TC21, Q8TF45
Diamond homologs: A2RRD8, A6NFI3, A6NM28, A8MUZ8, A8MWA4, B2RUI1, B4DU55, E9Q8G5, O43296, O43361, O75467, O75820, P0CH99, P0CI00, P10078, P16373, P16374, P17021, P17023, P17032, P17097, P17098, P21506, P51786, P52740, Q06732, Q08ER8, Q13106, Q13360, Q13398, Q14592, Q147U1, Q32M78, Q3KQV3, Q3MIS6, Q3SY52, Q571J5, Q5CZA5, Q5HY98, Q5R7I8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF304 | “down-regulates quantity by repression” | CDKN2A | “transcriptional regulation” |
| ZNF304 | “down-regulates quantity by repression” | CDKN2B | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
811 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:57351695:CAGG:C | donor_loss | 1.0000 |
| 19:57353721:GCAG:G | acceptor_loss | 1.0000 |
| 19:57353723:A:AG | acceptor_gain | 1.0000 |
| 19:57353723:AGAGT:A | acceptor_loss | 1.0000 |
| 19:57353724:G:GA | acceptor_gain | 1.0000 |
| 19:57353724:GA:G | acceptor_gain | 1.0000 |
| 19:57353724:GAGT:G | acceptor_gain | 1.0000 |
| 19:57353724:GAGTT:G | acceptor_gain | 1.0000 |
| 19:57353847:ACTAG:A | donor_gain | 1.0000 |
| 19:57353848:CTAG:C | donor_gain | 1.0000 |
| 19:57353848:CTAGG:C | donor_loss | 1.0000 |
| 19:57353849:TAG:T | donor_gain | 1.0000 |
| 19:57353849:TAGG:T | donor_loss | 1.0000 |
| 19:57353850:AG:A | donor_gain | 1.0000 |
| 19:57353850:AGGT:A | donor_loss | 1.0000 |
| 19:57353851:GG:G | donor_gain | 1.0000 |
| 19:57353851:GGTA:G | donor_loss | 1.0000 |
| 19:57353852:G:GG | donor_gain | 1.0000 |
| 19:57353852:GTA:G | donor_loss | 1.0000 |
| 19:57353853:T:G | donor_loss | 1.0000 |
| 19:57351389:G:GT | donor_gain | 0.9800 |
| 19:57351693:TTC:T | donor_gain | 0.9800 |
| 19:57351698:G:GG | donor_gain | 0.9800 |
| 19:57353719:T:TA | acceptor_gain | 0.9800 |
| 19:57353720:G:A | acceptor_gain | 0.9800 |
| 19:57355189:A:T | donor_gain | 0.9800 |
| 19:57351452:G:GT | donor_gain | 0.9600 |
| 19:57353719:T:G | acceptor_gain | 0.9300 |
| 19:57353722:CAG:C | acceptor_gain | 0.9300 |
| 19:57353723:AGA:A | acceptor_gain | 0.9300 |
AlphaMissense
4445 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:57357422:T:C | L518P | 0.999 |
| 19:57357487:T:C | F540L | 0.999 |
| 19:57357489:T:A | F540L | 0.999 |
| 19:57357489:T:G | F540L | 0.999 |
| 19:57356983:T:C | F372L | 0.998 |
| 19:57356985:T:A | F372L | 0.998 |
| 19:57356985:T:G | F372L | 0.998 |
| 19:57357235:T:C | F456L | 0.998 |
| 19:57357237:T:A | F456L | 0.998 |
| 19:57357237:T:G | F456L | 0.998 |
| 19:57357319:T:C | F484L | 0.998 |
| 19:57357321:C:A | F484L | 0.998 |
| 19:57357321:C:G | F484L | 0.998 |
| 19:57357170:T:C | L434P | 0.997 |
| 19:57357403:T:C | F512L | 0.997 |
| 19:57357405:C:A | F512L | 0.997 |
| 19:57357405:C:G | F512L | 0.997 |
| 19:57357506:T:C | L546P | 0.997 |
| 19:57357086:T:C | L406P | 0.996 |
| 19:57357151:T:C | F428L | 0.996 |
| 19:57357153:T:A | F428L | 0.996 |
| 19:57357153:T:G | F428L | 0.996 |
| 19:57357346:C:G | H493D | 0.996 |
| 19:57357348:C:A | H493Q | 0.996 |
| 19:57357348:C:G | H493Q | 0.996 |
| 19:57357514:C:G | H549D | 0.996 |
| 19:57356815:T:C | F316L | 0.995 |
| 19:57356817:C:A | F316L | 0.995 |
| 19:57356817:C:G | F316L | 0.995 |
| 19:57356990:G:C | R374P | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000221473 (19:57356148 G>A,T), RS1000872622 (19:57355472 T>C), RS1001266964 (19:57353263 T>C), RS1001340567 (19:57353627 G>A,C), RS1001797966 (19:57354384 C>G,T), RS1001891325 (19:57354719 G>C), RS1002300288 (19:57354606 G>A,T), RS1002646671 (19:57351605 G>A,C,T), RS1002918124 (19:57351392 C>T), RS1003012111 (19:57352071 C>G,T), RS1003467418 (19:57352668 T>G), RS1003764708 (19:57359937 A>G,T), RS1004310465 (19:57358211 G>A,C), RS1004340196 (19:57358303 A>G), RS1004725633 (19:57350346 T>C)
Disease associations
OMIM: gene MIM:613840 | 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
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007743_5 | Iris color (L* coordinate) | 9.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009764 | eye colour measurement |
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
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| geraniol | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Zinc | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
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.