ZNF184
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Summary
ZNF184 (zinc finger protein 184, HGNC:12975) is a protein-coding gene on chromosome 6p22.1, encoding Zinc finger protein 184 (Q99676). May be involved in transcriptional regulation.
The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 7738 — RefSeq curated summary.
At a glance
- GWAS associations: 41
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_001318891
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12975 |
| Approved symbol | ZNF184 |
| Name | zinc finger protein 184 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000096654 |
| Ensembl biotype | protein_coding |
| OMIM | 602277 |
| Entrez | 7738 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000211936, ENST00000377419, ENST00000683788, ENST00000881542
RefSeq mRNA: 5 — MANE Select: NM_001318891
NM_001318891, NM_001318892, NM_001318893, NM_001347832, NM_007149
CCDS: CCDS4624
Canonical transcript exons
ENST00000683788 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001175148 | 27456826 | 27456921 |
| ENSE00001366749 | 27467853 | 27467920 |
| ENSE00001383362 | 27457283 | 27457409 |
| ENSE00001389837 | 27472288 | 27472433 |
| ENSE00003918260 | 27450747 | 27453260 |
| ENSE00003920979 | 27472729 | 27473105 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 93.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.8758 / max 114.8289, expressed in 1592 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 72377 | 4.2709 | 1520 |
| 72371 | 0.6527 | 207 |
| 72376 | 0.2936 | 137 |
| 72372 | 0.2836 | 149 |
| 72374 | 0.1757 | 78 |
| 72373 | 0.1309 | 50 |
| 72375 | 0.0683 | 16 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 93.60 | gold quality |
| sperm | CL:0000019 | 91.62 | gold quality |
| hair follicle | UBERON:0002073 | 90.47 | silver quality |
| male germ cell | CL:0000015 | 89.38 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.29 | gold quality |
| endothelial cell | CL:0000115 | 89.27 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.88 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.23 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.86 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.41 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.28 | gold quality |
| oocyte | CL:0000023 | 86.26 | gold quality |
| visceral pleura | UBERON:0002401 | 86.14 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 85.85 | gold quality |
| parietal pleura | UBERON:0002400 | 85.42 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.40 | gold quality |
| ventricular zone | UBERON:0003053 | 85.23 | gold quality |
| nephron tubule | UBERON:0001231 | 85.21 | gold quality |
| secondary oocyte | CL:0000655 | 85.14 | gold quality |
| pleura | UBERON:0000977 | 84.89 | gold quality |
| gingiva | UBERON:0001828 | 84.31 | gold quality |
| embryo | UBERON:0000922 | 83.45 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 83.32 | gold quality |
| cortical plate | UBERON:0005343 | 82.91 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 82.79 | gold quality |
| entorhinal cortex | UBERON:0002728 | 82.73 | gold quality |
| primary visual cortex | UBERON:0002436 | 82.50 | gold quality |
| eye | UBERON:0000970 | 81.27 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 80.99 | gold quality |
| postcentral gyrus | UBERON:0002581 | 80.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.42 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| CDKN2A |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2120.1 | ZNF184 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:27852650
Upstream regulators (CollecTRI, top): STAT1
miRNA regulators (miRDB)
46 targeting ZNF184, 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-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
Literature-anchored findings (GeneRIF, showing 3)
- We found that 6p22.1 (rs6904596, ZNF184) was associated with both lung cancer and blood triglycerides. (PMID:27565901)
- Association between ZNF184 and symptoms of Parkinson’s disease in southern Chinese. (PMID:32125537)
- Long intergenic non-protein coding RNA 00858 participates in the occurrence and development of esophageal squamous cell carcinoma through the activation of the FTO-m6A-MYC axis by recruiting ZNF184. (PMID:36868327)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf646 | ENSDARG00000061424 |
| danio_rerio | si:dkey-154p10.3 | ENSDARG00000068366 |
| danio_rerio | si:dkey-89b17.4 | ENSDARG00000075545 |
| danio_rerio | zgc:66472 | ENSDARG00000075916 |
| danio_rerio | si:ch211-148l7.4 | ENSDARG00000094469 |
| danio_rerio | znf576.1 | ENSDARG00000097819 |
| 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), 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), ZNF48 (ENSG00000180035), 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 184 — Q99676 (reviewed: Q99676)
All UniProt accessions (1): Q99676
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Tissue specificity. Predominant expression in testis.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
RefSeq proteins (5): NP_001305820, NP_001305821, NP_001305822, NP_001334761, NP_009080 (=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 |
| IPR050331 | Zinc_finger_PRDM4/PRDM1/PRDM14 | Family |
Pfam: PF00096, PF01352, PF13465
UniProt features (37 total): zinc finger region 19, sequence conflict 9, modified residue 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, cross-link 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99676-F1 | 72.56 | 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 (4): 117, 122, 199, 206
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 117 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, CREBP1_Q2, BROWNE_HCMV_INFECTION_12HR_UP, CREB_Q4, MODULE_206, E4F1_Q6, ATF3_Q6, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, FISCHER_DREAM_TARGETS, LEF1_Q6, NRF2_01, MODULE_397, ATF_01
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): 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), DNA binding (GO:0003677), sequence-specific DNA binding (GO:0043565), 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 |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| DNA binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF184 | POM121L2 | Q96KW2 | 571 |
| ZNF184 | PRSS16 | Q9NQE7 | 432 |
| ZNF184 | ITPKB | P27987 | 430 |
| ZNF184 | COMMD5 | Q9GZQ3 | 389 |
| ZNF184 | OBI1 | Q5W0B1 | 370 |
| ZNF184 | HMGN4 | O00479 | 369 |
| ZNF184 | RPS7 | P23821 | 361 |
| ZNF184 | PGBD1 | Q96JS3 | 359 |
| ZNF184 | C8orf58 | Q8NAV2 | 358 |
| ZNF184 | SORBS3 | O60504 | 324 |
| ZNF184 | TMEM141 | Q96I45 | 323 |
| ZNF184 | ABT1 | Q9ULW3 | 323 |
| ZNF184 | TMEM121B | Q9BXQ6 | 315 |
| ZNF184 | DPY19L4 | Q7Z388 | 311 |
| ZNF184 | EMILIN2 | Q9BXX0 | 307 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF689 | ZNF593 | psi-mi:“MI:0914”(association) | 0.530 |
| THAP3 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| EWSR1 | ZNF184 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF184 | CLIC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZNF184 | UBP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SOX6 | ZNF184 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPAN | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL28 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| CNBP | NOP56 | psi-mi:“MI:0914”(association) | 0.350 |
| C6orf11 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| rl3_rl3l_human | NKRF | psi-mi:“MI:0914”(association) | 0.350 |
| RPL31 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS19 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (79): ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-MS), ZNF184 (Affinity Capture-RNA), ZNF184 (Proximity Label-MS)
ESM2 similar proteins: A1YEP8, A1YFW2, A2RRD8, A2T6E3, A2T6V8, A2T7D2, A2T7F4, A2T812, A6NHJ4, O14709, O43309, O60765, P17036, P17097, P51814, P52738, Q02975, Q08ER8, Q0VGE8, Q12901, Q2M218, Q2M3X9, Q3KNS6, Q4V8A8, Q5RBX0, Q5RCD9, Q5VIY5, Q61751, Q6GQR8, Q6ZMS4, Q7TSH9, Q86Y25, Q8BQC8, Q8IYX0, Q8IZ26, Q8N9F8, Q8NF99, Q8TF39, Q8TF47, Q96N58
Diamond homologs: A0A087WUV0, Q96K75, Q99676, Q9HBT8, Q9UJL9, Q9UJN7, A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 79 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 | 11 | 31.7× | 7e-13 |
| Viral mRNA Translation | 11 | 31.7× | 7e-13 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 11 | 31.4× | 7e-13 |
| Selenocysteine synthesis | 11 | 30.1× | 9e-13 |
| Eukaryotic Translation Termination | 11 | 30.1× | 9e-13 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 11 | 29.4× | 9e-13 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 11 | 29.4× | 9e-13 |
| Formation of a pool of free 40S subunits | 11 | 28.0× | 1e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 30.9× | 1e-12 |
| rRNA processing | 10 | 19.7× | 7e-09 |
| ribosomal small subunit biogenesis | 6 | 19.0× | 5e-05 |
| translation | 12 | 17.1× | 6e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
797 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:27456929:T:TC | acceptor_gain | 1.0000 |
| 6:27457277:CCTTA:C | donor_loss | 1.0000 |
| 6:27457278:CTTAC:C | donor_loss | 1.0000 |
| 6:27457279:TTAC:T | donor_loss | 1.0000 |
| 6:27457280:TA:T | donor_loss | 1.0000 |
| 6:27457281:ACCT:A | donor_loss | 1.0000 |
| 6:27457282:C:CT | donor_loss | 1.0000 |
| 6:27457322:C:A | donor_gain | 1.0000 |
| 6:27457406:CTTC:C | acceptor_gain | 1.0000 |
| 6:27457407:TTC:T | acceptor_gain | 1.0000 |
| 6:27457408:TC:T | acceptor_gain | 1.0000 |
| 6:27457409:CC:C | acceptor_gain | 1.0000 |
| 6:27457410:C:CA | acceptor_loss | 1.0000 |
| 6:27472884:C:CA | donor_gain | 1.0000 |
| 6:27472885:C:A | donor_gain | 1.0000 |
| 6:27456927:CAT:C | acceptor_gain | 0.9900 |
| 6:27456928:A:C | acceptor_gain | 0.9900 |
| 6:27456929:T:C | acceptor_gain | 0.9900 |
| 6:27457281:A:AC | donor_gain | 0.9900 |
| 6:27457282:C:CC | donor_gain | 0.9900 |
| 6:27457410:C:CC | acceptor_gain | 0.9900 |
| 6:27457415:A:AC | acceptor_gain | 0.9900 |
| 6:27472290:T:TA | donor_gain | 0.9900 |
| 6:27472325:TGAAC:T | donor_gain | 0.9900 |
| 6:27453261:C:CC | acceptor_gain | 0.9800 |
| 6:27456840:A:AC | donor_gain | 0.9800 |
| 6:27456841:C:CC | donor_gain | 0.9800 |
| 6:27460525:A:C | donor_gain | 0.9800 |
| 6:27467916:CAGAT:C | acceptor_gain | 0.9800 |
| 6:27472306:AT:A | donor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000017423 (6:27422217 A>G,T), RS1000090715 (6:27422468 T>C), RS1000156694 (6:27424348 A>C,G), RS1000168871 (6:27449924 T>C), RS1000273017 (6:27425946 C>T), RS1000387990 (6:27434622 T>C), RS1000413996 (6:27421835 G>C), RS1000435463 (6:27435016 A>G), RS1000441639 (6:27470602 A>G), RS1000482522 (6:27422223 AAAG>A), RS1000535063 (6:27471049 A>C), RS1000537578 (6:27464738 C>A,T), RS1000573379 (6:27407540 C>T), RS1000590569 (6:27416609 A>G), RS1000745604 (6:27457587 T>C)
Disease associations
OMIM: gene MIM:602277 | 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
41 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000433_1 | Schizophrenia | 1.000000e-08 |
| GCST002463_3 | Systemic lupus erythematosus | 8.000000e-09 |
| GCST003984_13 | Parkinson’s disease | 2.000000e-10 |
| GCST004521_115 | Autism spectrum disorder or schizophrenia | 3.000000e-16 |
| GCST004521_116 | Autism spectrum disorder or schizophrenia | 3.000000e-16 |
| GCST004521_166 | Autism spectrum disorder or schizophrenia | 4.000000e-24 |
| GCST004521_254 | Autism spectrum disorder or schizophrenia | 6.000000e-11 |
| GCST004521_6 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_73 | Autism spectrum disorder or schizophrenia | 8.000000e-11 |
| GCST004744_17 | Lung adenocarcinoma | 3.000000e-06 |
| GCST004748_87 | Lung cancer | 2.000000e-11 |
| GCST004748_88 | Lung cancer | 1.000000e-10 |
| GCST004749_70 | Lung cancer in ever smokers | 8.000000e-09 |
| GCST004749_71 | Lung cancer in ever smokers | 3.000000e-08 |
| GCST004750_86 | Squamous cell lung carcinoma | 1.000000e-11 |
| GCST004750_87 | Squamous cell lung carcinoma | 5.000000e-10 |
| GCST004902_23 | Parkinson’s disease | 1.000000e-12 |
| GCST005541_1 | Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome) | 1.000000e-16 |
| GCST007429_15 | Lung function (FVC) | 1.000000e-22 |
| GCST007430_73 | Peak expiratory flow | 1.000000e-48 |
| GCST007431_140 | Lung function (FEV1/FVC) | 7.000000e-16 |
| GCST007432_170 | FEV1 | 3.000000e-35 |
| GCST007537_1 | Modic changes | 3.000000e-06 |
| GCST008664_5 | Lung function (low FEV1 vs high FEV1) | 5.000000e-11 |
| GCST008921_6 | Asthma and major depressive disorder | 1.000000e-09 |
| GCST008921_9 | Asthma and major depressive disorder | 3.000000e-08 |
| GCST010002_50 | Refractive error | 4.000000e-34 |
| GCST010083_343 | Hemoglobin levels | 3.000000e-15 |
| GCST010142_16 | Fish- and plant-related diet | 2.000000e-10 |
| GCST010142_19 | Fish- and plant-related diet | 4.000000e-10 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004312 | vital capacity |
| EFO:0009718 | peak expiratory flow |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004314 | forced expiratory volume |
| EFO:0004509 | hemoglobin measurement |
| EFO:0008111 | diet measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 2 |
| Cyclosporine | 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 |
| nickel sulfate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lead | affects methylation | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Urethane | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): lung adenocarcinoma, lung carcinoma, Parkinson disease, sarcoidosis, squamous cell lung carcinoma