ZMAT3
gene geneOn this page
Also known as WIG1MGC10613FLJ12296WIG-1PAG608
Summary
ZMAT3 (zinc finger matrin-type 3, HGNC:29983) is a protein-coding gene on chromosome 3q26.32, encoding Zinc finger matrin-type protein 3 (Q9HA38). Acts as a bona fide target gene of p53/TP53.
This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid.
Source: NCBI Gene 64393 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 47 total
- MANE Select transcript:
NM_022470
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29983 |
| Approved symbol | ZMAT3 |
| Name | zinc finger matrin-type 3 |
| Location | 3q26.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | WIG1, MGC10613, FLJ12296, WIG-1, PAG608 |
| Ensembl gene | ENSG00000172667 |
| Ensembl biotype | protein_coding |
| OMIM | 606452 |
| Entrez | 64393 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000311417, ENST00000414084, ENST00000432729, ENST00000652290, ENST00000867369, ENST00000867370, ENST00000867371, ENST00000867372, ENST00000867373, ENST00000931263
RefSeq mRNA: 8 — MANE Select: NM_022470
NM_001375824, NM_001375825, NM_001375826, NM_001375827, NM_001375828, NM_001375829, NM_022470, NM_152240
CCDS: CCDS3224, CCDS46962
Canonical transcript exons
ENST00000311417 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001206616 | 179027423 | 179027523 |
| ENSE00001206618 | 179027646 | 179027812 |
| ENSE00001206621 | 179030880 | 179030999 |
| ENSE00001206631 | 179017223 | 179025228 |
| ENSE00001206636 | 179067483 | 179067809 |
| ENSE00003843915 | 179071595 | 179071809 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 96.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.2319 / max 225.5099, expressed in 1814 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45709 | 19.7864 | 1795 |
| 45708 | 10.4612 | 1544 |
| 45710 | 1.1312 | 753 |
| 45711 | 0.8232 | 514 |
| 45712 | 0.7065 | 400 |
| 45707 | 0.2424 | 124 |
| 45713 | 0.0809 | 16 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| postcentral gyrus | UBERON:0002581 | 96.50 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.37 | gold quality |
| parietal lobe | UBERON:0001872 | 96.05 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.12 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.10 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.03 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.95 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.42 | gold quality |
| globus pallidus | UBERON:0001875 | 94.26 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.09 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.85 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 93.47 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.62 | gold quality |
| ventral tegmental area | UBERON:0002691 | 92.54 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.37 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.30 | gold quality |
| pons | UBERON:0000988 | 91.68 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.30 | gold quality |
| occipital lobe | UBERON:0002021 | 91.01 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 90.97 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 90.72 | gold quality |
| visceral pleura | UBERON:0002401 | 90.66 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 90.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.39 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.27 | gold quality |
| nipple | UBERON:0002030 | 90.16 | gold quality |
| mammary duct | UBERON:0001765 | 90.04 | gold quality |
| parietal pleura | UBERON:0002400 | 89.91 | gold quality |
| caput epididymis | UBERON:0004358 | 89.83 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 89.67 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.29 |
| E-GEOD-124858 | no | 506.90 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53, ZNF91
miRNA regulators (miRDB)
334 targeting ZMAT3, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
Literature-anchored findings (GeneRIF, showing 17)
- Results demonstrate that human Wig-1 can bind different types of double-stranded RNAs (dsRNAs), including dsRNAs resembling small interfering RNAs and microRNAs, and indicate that dsRNA binding has a role in Wig-1-mediated regulation of cell growth. (PMID:16844115)
- Wig-1-binding proteins, hnRNP A2/B1 and RNA Helicase A, both of which are involved in RNA processing, were identified. (PMID:18519039)
- Data demonstrated a direct interaction between Dicer and Wig-1 and both may play a common role in dsRNA-related gene regulation. (PMID:19127773)
- the p53 target Wig-1 is a previously undescribed AU-rich element-regulating protein that acts as a positive feedback regulator of p53, with implications both for the steady-state levels of p53 and for the p53 stress response (PMID:19805223)
- The cellular distribution of the nuclear matrix protein matrin 3 is altered by novel phosphorylation induced by the alphaherpesvirus US3 kinase family. (PMID:20962082)
- WIG-1 might be a novel modifier in esophageal carcinogenesis, and the WIG-1 MAb should be useful in further study of the mechanism in WIG-1-related physiological reactions. (PMID:21050045)
- WIG-1 might be involved in the zinc-induced cell cycle arrest and apoptosis of human esophageal squamous cell carcinoma cells (PMID:21559779)
- Wig-1 knockdown causes a dramatic inhibition of N-Myc expression and triggers differentiation in neuroblastoma cells carrying amplified N-Myc. (PMID:22513872)
- The data indicated a novel role for Wig1 in RNA-induced silencing complex target accessibility, which is a key step in RNA-mediated gene silencing. Fine tuning of p21 levels by Wig1 was essential for the prevention of cellular senescence. (PMID:23085987)
- PSF and MATR3 are cellular host factors that bind viral RNA and promote Rev activity. (PMID:23158102)
- Results suggest a role of Wig-1 as a survival factor that directs the p53 stress response toward cell cycle arrest rather than apoptosis through the regulation of FAS and 14-3-3sigma mRNA levels. (PMID:24469038)
- expression of the p53 target Wig-1 is associated with HPV status and patient survival in cervical carcinoma (PMID:25379706)
- we propose that Wig1, a key p53 downstream molecule in HD condition, play an important role in stabilizing mutant Htt mRNA and thereby accelerating HD pathology in the mHtt-p53-Wig1 positive feedback manner (PMID:27206983)
- WIG1 governs the miRNA-dependent and the miRNA-independent recruitment of AGO2 to lower the stability of and suppress the translation of ACOT7 mRNA. (PMID:28472401)
- Zmat3 Is a Key Splicing Regulator in the p53 Tumor Suppression Program. (PMID:33157015)
- The p53-induced RNA-binding protein ZMAT3 is a splicing regulator that inhibits the splicing of oncogenic CD44 variants in colorectal carcinoma. (PMID:33334821)
- eIF5B regulates the expression of PD-L1 in prostate cancer cells by interacting with Wig1. (PMID:34525951)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zmat3 | ENSDARG00000080021 |
| mus_musculus | Zmat3 | ENSMUSG00000027663 |
| rattus_norvegicus | Zmat3 | ENSRNOG00000063864 |
| drosophila_melanogaster | CG1231 | FBGN0035134 |
| drosophila_melanogaster | dbf | FBGN0287630 |
Paralogs (9): ZNF346 (ENSG00000113761), ZNF385B (ENSG00000144331), ZMAT2 (ENSG00000146007), ZNF385D (ENSG00000151789), ZNF385A (ENSG00000161642), ZMAT4 (ENSG00000165061), ZMAT1 (ENSG00000166432), KRCC1 (ENSG00000172086), ZNF385C (ENSG00000187595)
Protein
Protein identifiers
Zinc finger matrin-type protein 3 — Q9HA38 (reviewed: Q9HA38)
Alternative names: Zinc finger protein WIG-1, p53-activated gene 608 protein
All UniProt accessions (3): Q9HA38, A0A494C120, C9J8H5
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a bona fide target gene of p53/TP53. May play a role in the TP53-dependent growth regulatory pathway. May contribute to TP53-mediated apoptosis by regulation of TP53 expression and translocation to the nucleus and nucleolus.
Subunit / interactions. Interacts with dsRNA.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Highly expressed in adult brain, and moderately in adult kidney and testis. Not detected in fetal brain, heart, pancreas, adrenal gland, liver or small intestine.
Induction. By DNA damage in a p53/TP53-dependent manner. Up-regulated following ionizing radiation in primary squamous cell carcinoma of the lung and in various colon cancer cell lines.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HA38-1 | 1 | yes |
| Q9HA38-2 | 2 |
RefSeq proteins (8): NP_001362753, NP_001362754, NP_001362755, NP_001362756, NP_001362757, NP_001362758, NP_071915, NP_689426 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003604 | Matrin/U1-like-C_Znf_C2H2 | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR022755 | Znf_C2H2_jaz | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR052644 | ZMAT3 | Family |
Pfam: PF12171, PF12874
UniProt features (10 total): zinc finger region 3, compositionally biased region 3, region of interest 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HA38-F1 | 69.64 | 0.27 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 304 (showing top):
LEE_NEURAL_CREST_STEM_CELL_DN, TGCGCANK_UNKNOWN, GCANCTGNY_MYOD_Q6, GOLDRATH_IMMUNE_MEMORY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, TGACCTY_ERR1_Q2, AAAYRNCTG_UNKNOWN, chr3q26, CAGCTG_AP4_Q5, TANG_SENESCENCE_TP53_TARGETS_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GROSS_ELK3_TARGETS_UP, GROSS_HYPOXIA_VIA_ELK3_UP, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_DN
GO Biological Process (3): apoptotic process (GO:0006915), DNA damage response (GO:0006974), protein transport (GO:0015031)
GO Molecular Function (5): RNA binding (GO:0003723), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleoplasm (GO:0005654), nucleolus (GO:0005730), plasma membrane (GO:0005886), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nuclear lumen | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cellular response to stress | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
698 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZMAT3 | TP53 | P04637 | 703 |
| ZMAT3 | CDKN1A | P38936 | 678 |
| ZMAT3 | SESN1 | Q9Y6P5 | 545 |
| ZMAT3 | CCNG1 | P51959 | 533 |
| ZMAT3 | PHLDA3 | Q9Y5J5 | 521 |
| ZMAT3 | DHX9 | Q08211 | 504 |
| ZMAT3 | HNRNPA2B1 | P22626 | 502 |
| ZMAT3 | DDB2 | Q92466 | 485 |
| ZMAT3 | RRM2B | Q7LG56 | 483 |
| ZMAT3 | PERP | Q96FX8 | 482 |
| ZMAT3 | MDM2 | Q00987 | 481 |
| ZMAT3 | RPS27L | Q71UM5 | 480 |
| ZMAT3 | FDXR | P22570 | 477 |
| ZMAT3 | BBC3 | Q96PG8 | 477 |
| ZMAT3 | AEN | Q8WTP8 | 466 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZMAT3 | AGO2 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| ZMAT3 | AGO2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| PRKRA | ZMAT3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMAT3 | STAU1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SIAH1 | ZMAT3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMAT3 | PRKRA | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAU1 | ZMAT3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMAT3 | SIAH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARBP2 | ZMAT3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMAT3 | ACTA2 | psi-mi:“MI:0914”(association) | 0.530 |
| DHX9 | ZMAT3 | psi-mi:“MI:0915”(physical association) | 0.520 |
| HNRNPA2B1 | ZMAT3 | psi-mi:“MI:0915”(physical association) | 0.520 |
| ZMAT3 | DHX9 | psi-mi:“MI:0915”(physical association) | 0.520 |
| ZMAT3 | HNRNPA2B1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| NS | ZMAT3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Itsn2 | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
| Gtf3c2 | PAPD5 | psi-mi:“MI:0914”(association) | 0.350 |
| SAMHD1 | SF1 | psi-mi:“MI:0914”(association) | 0.350 |
| MMGT1 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (44): ZMAT3 (Two-hybrid), ZMAT3 (Two-hybrid), ZMAT3 (Two-hybrid), ZMAT3 (Reconstituted Complex), CNOT6 (Affinity Capture-Western), ACTA2 (Affinity Capture-MS), DICER1 (Affinity Capture-MS), SF3A1 (Affinity Capture-MS), SUPV3L1 (Affinity Capture-MS), DCAF17 (Affinity Capture-MS), ISCA1 (Affinity Capture-MS), TARBP2 (Affinity Capture-MS), FTO (Affinity Capture-MS), ZMAT3 (Affinity Capture-MS), ZMAT3 (Affinity Capture-MS)
ESM2 similar proteins: A2VE56, A6QPH9, I3LHS8, O08781, O14545, O54836, P0C6S7, Q14CM0, Q3SZY7, Q3U2E2, Q497H0, Q4R3D6, Q4R970, Q58D05, Q5F3F2, Q5FWF5, Q5R7S6, Q5RDJ2, Q5U2M7, Q5VT97, Q66J85, Q68FE8, Q69Z69, Q6DGF4, Q6FIF0, Q6N043, Q6P2K3, Q70EL2, Q7Z6G8, Q8BIZ1, Q8IWR0, Q8K214, Q8K387, Q8N7W2, Q8N9Z9, Q8NA31, Q8ND82, Q8QFX1, Q91YD3, Q96B23
Diamond homologs: A2RV29, B0JZ85, O08781, O54836, Q0IIC4, Q0VD35, Q28EG9, Q5H9K5, Q5R4W8, Q8AVN9, Q8BZ94, Q9H898, Q9HA38, Q9R0B7, Q9UL40, O88532, Q5REX3, Q5U231, Q6GPM1, Q96KR1, Q17QQ9, Q5PPL1, Q5R6I3, Q99JT5, Q9NPI7, A0A096LPI5, A6NJG6, F2Z398, Q09FC8, Q3V0C1, Q68CZ1, Q8IV13, Q8N9N2, Q8TDM0, Q92918, Q96J02, Q96MD7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1154 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:179025025:AT:A | donor_gain | 1.0000 |
| 3:179025025:ATC:A | donor_gain | 1.0000 |
| 3:179025044:ATT:A | donor_gain | 1.0000 |
| 3:179025046:T:A | donor_gain | 1.0000 |
| 3:179025053:CCG:C | donor_gain | 1.0000 |
| 3:179025226:CTG:C | acceptor_gain | 1.0000 |
| 3:179027439:TGTA:T | donor_gain | 1.0000 |
| 3:179027478:ATTC:A | donor_gain | 1.0000 |
| 3:179027644:A:AC | donor_gain | 1.0000 |
| 3:179027645:C:CC | donor_gain | 1.0000 |
| 3:179027699:C:A | donor_gain | 1.0000 |
| 3:179027820:C:CT | acceptor_gain | 1.0000 |
| 3:179030874:TCTCA:T | donor_loss | 1.0000 |
| 3:179030875:CTCA:C | donor_loss | 1.0000 |
| 3:179030876:TCA:T | donor_loss | 1.0000 |
| 3:179030877:CACCT:C | donor_loss | 1.0000 |
| 3:179030878:ACCT:A | donor_loss | 1.0000 |
| 3:179030879:C:T | donor_loss | 1.0000 |
| 3:179030998:CC:C | acceptor_gain | 1.0000 |
| 3:179030999:CC:C | acceptor_gain | 1.0000 |
| 3:179067628:T:TA | donor_gain | 1.0000 |
| 3:179070849:A:AC | donor_gain | 1.0000 |
| 3:179070850:G:C | donor_gain | 1.0000 |
| 3:179025013:A:C | donor_gain | 0.9900 |
| 3:179025016:A:AC | donor_gain | 0.9900 |
| 3:179025017:C:CC | donor_gain | 0.9900 |
| 3:179025018:TA:T | donor_gain | 0.9900 |
| 3:179025025:A:AC | donor_gain | 0.9900 |
| 3:179025037:C:CA | donor_gain | 0.9900 |
| 3:179025229:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
1882 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:179025105:A:G | F261S | 1.000 |
| 3:179025134:A:C | C251W | 1.000 |
| 3:179025135:C:G | C251S | 1.000 |
| 3:179025135:C:T | C251Y | 1.000 |
| 3:179025136:A:G | C251R | 1.000 |
| 3:179025136:A:T | C251S | 1.000 |
| 3:179025143:G:C | C248W | 1.000 |
| 3:179025144:C:G | C248S | 1.000 |
| 3:179025144:C:T | C248Y | 1.000 |
| 3:179025145:A:G | C248R | 1.000 |
| 3:179025145:A:T | C248S | 1.000 |
| 3:179027690:A:C | H171Q | 1.000 |
| 3:179027690:A:T | H171Q | 1.000 |
| 3:179027692:G:C | H171D | 1.000 |
| 3:179027692:G:T | H171N | 1.000 |
| 3:179027700:C:A | G168V | 1.000 |
| 3:179027700:C:T | G168E | 1.000 |
| 3:179027701:C:G | G168R | 1.000 |
| 3:179027701:C:T | G168R | 1.000 |
| 3:179027708:G:C | H165Q | 1.000 |
| 3:179027708:G:T | H165Q | 1.000 |
| 3:179027710:G:C | H165D | 1.000 |
| 3:179027710:G:T | H165N | 1.000 |
| 3:179027718:G:T | A162D | 1.000 |
| 3:179027735:G:C | F156L | 1.000 |
| 3:179027735:G:T | F156L | 1.000 |
| 3:179027736:A:G | F156S | 1.000 |
| 3:179027737:A:G | F156L | 1.000 |
| 3:179027743:C:G | A154P | 1.000 |
| 3:179027747:A:C | C152W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000015846 (3:179052141 T>A,C), RS1000028014 (3:179063763 T>C), RS1000043681 (3:179021501 T>C), RS1000081308 (3:179045507 C>A,T), RS1000118051 (3:179057690 A>T), RS1000123260 (3:179070896 G>A), RS1000162797 (3:179057898 C>A,T), RS1000171617 (3:179034177 T>C), RS1000190361 (3:179057915 T>C), RS1000217277 (3:179041125 T>C), RS1000386259 (3:179064304 T>C), RS1000464738 (3:179064107 A>G), RS1000502502 (3:179029117 C>T), RS1000610609 (3:179045722 G>C,T), RS1000619633 (3:179058195 C>T)
Disease associations
OMIM: gene MIM:606452 | 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
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002037_18 | Post-traumatic stress disorder (asjusted for relatedness) | 2.000000e-06 |
| GCST004602_139 | Mean corpuscular volume | 6.000000e-09 |
| GCST004603_256 | Platelet count | 4.000000e-12 |
| GCST004630_129 | Mean corpuscular hemoglobin | 3.000000e-10 |
| GCST009391_742 | Metabolite levels | 9.000000e-06 |
| GCST010002_445 | Refractive error | 2.000000e-09 |
| GCST90002390_299 | Mean corpuscular hemoglobin | 1.000000e-21 |
| GCST90002392_320 | Mean corpuscular volume | 1.000000e-20 |
| GCST90002395_397 | Mean platelet volume | 5.000000e-15 |
| GCST90002397_88 | Mean spheric corpuscular volume | 3.000000e-15 |
| GCST90002401_135 | Platelet distribution width | 3.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0007984 | platelet component distribution width |
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
86 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects cotreatment, increases expression, increases methylation | 6 |
| Valproic Acid | decreases expression, decreases methylation, increases expression, affects expression | 6 |
| Cisplatin | affects expression, decreases expression, increases expression, affects cotreatment | 5 |
| methylmercuric chloride | increases expression, affects cotreatment | 4 |
| Doxorubicin | affects expression, increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| nutlin 3 | affects cotreatment, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Daunorubicin | increases expression | 2 |
| Mitoxantrone | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| chloroacetaldehyde | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| benzo(b)fluoranthene | affects cotreatment, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| salinomycin | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| potassium bromate | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| fludarabine | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| ochratoxin A | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 3,4-dihydroxy-1,2-epoxy-1,2,3,4-tetrahydrobenz(a)anthracene | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2LR | Abcam HeLa ZMAT3 KO | Cancer cell line | Female |
| CVCL_D8YE | Ubigene HCT 116 ZMAT3 KO | Cancer cell line | Male |
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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): post-traumatic stress disorder