ZNF318
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Also known as HRIHFB2436ZFP318
Summary
ZNF318 (zinc finger protein 318, HGNC:13578) is a protein-coding gene on chromosome 6p21.1, encoding Zinc finger protein 318 (Q5VUA4). Acts as a transcriptional corepressor for AR-mediated transactivation function.
Predicted to enable protein heterodimerization activity and protein homodimerization activity. Predicted to be involved in negative regulation of DNA-templated transcription and positive regulation of DNA-templated transcription. Located in cytosol and nucleoplasm.
Source: NCBI Gene 24149 — RefSeq curated summary.
At a glance
- GWAS associations: 46
- Clinical variants (ClinVar): 340 total
- MANE Select transcript:
NM_014345
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13578 |
| Approved symbol | ZNF318 |
| Name | zinc finger protein 318 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HRIHFB2436, ZFP318 |
| Ensembl gene | ENSG00000171467 |
| Ensembl biotype | protein_coding |
| OMIM | 617512 |
| Entrez | 24149 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000361428, ENST00000605935, ENST00000606599, ENST00000607252, ENST00000930865
RefSeq mRNA: 1 — MANE Select: NM_014345
NM_014345
CCDS: CCDS4895
Canonical transcript exons
ENST00000361428 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001137777 | 43336070 | 43340502 |
| ENSE00001137783 | 43357126 | 43357765 |
| ENSE00001172979 | 43340790 | 43340908 |
| ENSE00001172987 | 43342112 | 43342211 |
| ENSE00001172995 | 43342676 | 43342879 |
| ENSE00001173003 | 43348324 | 43348625 |
| ENSE00001173011 | 43352377 | 43352476 |
| ENSE00001173021 | 43354664 | 43356145 |
| ENSE00001612696 | 43368967 | 43369647 |
| ENSE00001681665 | 43365292 | 43365440 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 91.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9862 / max 101.9156, expressed in 1726 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73679 | 3.6148 | 1342 |
| 73680 | 1.8298 | 1121 |
| 73681 | 1.3229 | 910 |
| 73678 | 0.9909 | 447 |
| 204000 | 0.2210 | 102 |
| 73677 | 0.0068 | 3 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 91.92 | gold quality |
| right testis | UBERON:0004534 | 91.60 | gold quality |
| testis | UBERON:0000473 | 91.13 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.51 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.39 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.35 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.32 | gold quality |
| granulocyte | CL:0000094 | 86.28 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.19 | gold quality |
| secondary oocyte | CL:0000655 | 85.77 | gold quality |
| apex of heart | UBERON:0002098 | 85.70 | gold quality |
| lymph node | UBERON:0000029 | 85.54 | gold quality |
| sural nerve | UBERON:0015488 | 85.52 | gold quality |
| endocervix | UBERON:0000458 | 84.88 | gold quality |
| monocyte | CL:0000576 | 84.59 | gold quality |
| body of uterus | UBERON:0009853 | 84.57 | gold quality |
| leukocyte | CL:0000738 | 84.53 | gold quality |
| mononuclear cell | CL:0000842 | 84.43 | gold quality |
| cerebellum | UBERON:0002037 | 84.23 | gold quality |
| sperm | CL:0000019 | 83.65 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.64 | gold quality |
| cortical plate | UBERON:0005343 | 83.52 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 83.46 | gold quality |
| tibial nerve | UBERON:0001323 | 83.23 | gold quality |
| ventricular zone | UBERON:0003053 | 83.11 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.03 | gold quality |
| right ovary | UBERON:0002118 | 82.79 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.78 | gold quality |
| thyroid gland | UBERON:0002046 | 82.61 | gold quality |
| left ovary | UBERON:0002119 | 82.60 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.91 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
113 targeting ZNF318, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
Literature-anchored findings (GeneRIF, showing 1)
- in the unique regulation system of AR-mediated transactivation, two spliced isoforms of TZF act as coactivator and corepressor, respectively (PMID:16446156)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf318 | ENSDARG00000090054 |
| mus_musculus | Zfp318 | ENSMUSG00000015597 |
| rattus_norvegicus | Zfp318 | ENSRNOG00000018741 |
| drosophila_melanogaster | CG9776 | FBGN0027866 |
| caenorhabditis_elegans | WBGENE00017031 |
Protein
Protein identifiers
Zinc finger protein 318 — Q5VUA4 (reviewed: Q5VUA4)
Alternative names: Endocrine regulatory protein
All UniProt accessions (2): Q5VUA4, U3KQ37
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a transcriptional corepressor for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division. Acts as a transcriptional coactivator for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division.
Subunit / interactions. Homodimer. Heterodimer of isoform 1 and isoform 2. Isoform 1 and isoform 2 interact with AR.
Subcellular location. Nucleus.
Tissue specificity. Expressed in endocrine tissue.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VUA4-1 | 1 | yes |
| Q5VUA4-2 | 2 |
RefSeq proteins (1): NP_055160* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003604 | Matrin/U1-like-C_Znf_C2H2 | Domain |
| IPR055309 | Znf318-like | Family |
UniProt features (92 total): modified residue 29, compositionally biased region 20, region of interest 16, sequence variant 8, sequence conflict 7, cross-link 4, coiled-coil region 3, zinc finger region 2, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VUA4-F1 | 41.32 | 0.05 |
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 (33): 40, 79, 81, 136, 173, 205, 207, 214, 464, 472, 501, 527, 842, 1010, 1037, 1243, 1267, 1420, 1713, 1856 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (3): negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), meiotic cell cycle (GO:0051321)
GO Molecular Function (4): nucleic acid binding (GO:0003676), zinc ion binding (GO:0008270), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| binding | 1 |
| transition metal ion binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2428 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF318 | ZFP36L2 | P47974 | 669 |
| ZNF318 | YLPM1 | P49750 | 557 |
| ZNF318 | ZFP36 | P26651 | 524 |
| ZNF318 | PPP1CC | P36873 | 482 |
| ZNF318 | ZFP36L1 | Q07352 | 466 |
| ZNF318 | HINFP | Q9BQA5 | 441 |
| ZNF318 | SYCE3 | A1L190 | 434 |
| ZNF318 | ABCC10 | Q5T3U5 | 417 |
| ZNF318 | TEX11 | Q8IYF3 | 411 |
| ZNF318 | NCAPD2 | Q15021 | 402 |
| ZNF318 | ZFHX4 | Q86UP3 | 389 |
| ZNF318 | TESMIN | Q9Y4I5 | 371 |
| ZNF318 | CNR2 | P34972 | 370 |
| ZNF318 | RWDD1 | Q9H446 | 357 |
| ZNF318 | POU6F1 | Q14863 | 330 |
| ZNF318 | ZC3H15 | Q8WU90 | 330 |
IntAct
108 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AXIN1 | APC | psi-mi:“MI:0914”(association) | 0.850 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| rep | SBNO1 | psi-mi:“MI:0914”(association) | 0.530 |
| DISC1 | AP4M1 | psi-mi:“MI:0914”(association) | 0.530 |
| CPNE2 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| BAG4 | DNAJC13 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| ZNF318 | LRRC59 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FHIP2B | ZNF318 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DENR | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Cep135 | psi-mi:“MI:0914”(association) | 0.350 | |
| AP4M1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SGTB | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| NBEAL2 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP63 | CIT | psi-mi:“MI:0914”(association) | 0.350 |
| CEP170 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP192 | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| CEP63 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| SF3A1 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (169): ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Proximity Label-MS), ZNF318 (Proximity Label-MS), ZNF318 (Proximity Label-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS)
ESM2 similar proteins: A0JMU8, A5D7H5, E9Q2Z1, O15014, O15234, O43823, O70305, O75420, P48634, P61129, Q13625, Q1ECZ4, Q3UH68, Q3UIL6, Q569Z6, Q5BJ39, Q5CZI8, Q5M7V8, Q5R4R4, Q5TM26, Q5VK71, Q5VUA4, Q62415, Q68FI1, Q6IQ23, Q6MG48, Q6PJG2, Q6ZQ03, Q7TPM1, Q7TQG1, Q7TSC1, Q8AVJ2, Q8BZ47, Q8CG79, Q8K2F8, Q8K3W3, Q8K3X0, Q8N3X1, Q8ND56, Q96EV2
Diamond homologs: Q5VUA4, Q99PP2
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ZNF318 | “down-regulates activity” | AR | binding |
| HDAC2 | “up-regulates activity” | ZNF318 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 146 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 |
|---|---|---|---|
| mRNA Splicing | 13 | 15.5× | 4e-10 |
| mRNA 3’-end processing | 7 | 15.0× | 3e-05 |
| Processing of Capped Intron-Containing Pre-mRNA | 14 | 12.5× | 7e-10 |
| mRNA Polyadenylation | 13 | 12.4× | 4e-09 |
| mRNA Splicing - Minor Pathway | 5 | 12.2× | 3e-03 |
| RNA Polymerase II Transcription Termination | 5 | 11.9× | 3e-03 |
| mRNA Splicing - Major Pathway | 19 | 11.3× | 1e-12 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 6 | 9.9× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 17 | 12.3× | 3e-11 |
| mRNA processing | 10 | 6.2× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
340 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 298 |
| Likely benign | 20 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2386 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:43307610:A:AC | donor_gain | 1.0000 |
| 6:43307611:C:CC | donor_gain | 1.0000 |
| 6:43307611:CTTTT:C | donor_gain | 1.0000 |
| 6:43308514:T:TA | donor_gain | 1.0000 |
| 6:43340498:TATTT:T | acceptor_gain | 1.0000 |
| 6:43340499:ATTT:A | acceptor_gain | 1.0000 |
| 6:43340499:ATTTC:A | acceptor_loss | 1.0000 |
| 6:43340500:TTT:T | acceptor_gain | 1.0000 |
| 6:43340500:TTTC:T | acceptor_loss | 1.0000 |
| 6:43340501:TT:T | acceptor_gain | 1.0000 |
| 6:43340502:TC:T | acceptor_loss | 1.0000 |
| 6:43340503:C:CC | acceptor_gain | 1.0000 |
| 6:43340504:T:A | acceptor_loss | 1.0000 |
| 6:43342216:T:C | acceptor_gain | 1.0000 |
| 6:43342599:T:C | acceptor_gain | 1.0000 |
| 6:43342599:T:TC | acceptor_gain | 1.0000 |
| 6:43348635:C:CT | acceptor_gain | 1.0000 |
| 6:43348636:A:T | acceptor_gain | 1.0000 |
| 6:43348638:A:AC | acceptor_gain | 1.0000 |
| 6:43348638:A:C | acceptor_gain | 1.0000 |
| 6:43348642:C:CT | acceptor_gain | 1.0000 |
| 6:43348643:A:T | acceptor_gain | 1.0000 |
| 6:43348645:C:CT | acceptor_gain | 1.0000 |
| 6:43352371:TGATA:T | donor_loss | 1.0000 |
| 6:43352372:GATAC:G | donor_loss | 1.0000 |
| 6:43352374:TACCT:T | donor_loss | 1.0000 |
| 6:43352376:C:A | donor_loss | 1.0000 |
| 6:43352473:TAAC:T | acceptor_gain | 1.0000 |
| 6:43352478:T:C | acceptor_loss | 1.0000 |
| 6:43357199:T:TA | donor_gain | 1.0000 |
AlphaMissense
14852 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:43342187:A:G | W1101R | 1.000 |
| 6:43342187:A:T | W1101R | 1.000 |
| 6:43348553:A:G | L948P | 1.000 |
| 6:43352391:A:G | L919P | 1.000 |
| 6:43355547:A:G | L596P | 1.000 |
| 6:43339295:A:G | L1568P | 0.999 |
| 6:43339768:A:C | F1410L | 0.999 |
| 6:43339768:A:T | F1410L | 0.999 |
| 6:43339770:A:G | F1410L | 0.999 |
| 6:43339992:A:G | W1336R | 0.999 |
| 6:43339992:A:T | W1336R | 0.999 |
| 6:43340459:A:G | L1180P | 0.999 |
| 6:43340465:C:G | R1178P | 0.999 |
| 6:43340468:C:G | R1177P | 0.999 |
| 6:43340795:A:C | Y1164D | 0.999 |
| 6:43340871:G:C | C1138W | 0.999 |
| 6:43340873:A:G | C1138R | 0.999 |
| 6:43342112:C:G | G1126R | 0.999 |
| 6:43342185:C:A | W1101C | 0.999 |
| 6:43342185:C:G | W1101C | 0.999 |
| 6:43342739:G:C | C1071W | 0.999 |
| 6:43342748:G:C | C1068W | 0.999 |
| 6:43342749:C:G | C1068S | 0.999 |
| 6:43342750:A:G | C1068R | 0.999 |
| 6:43342750:A:T | C1068S | 0.999 |
| 6:43342753:A:G | W1067R | 0.999 |
| 6:43342753:A:T | W1067R | 0.999 |
| 6:43348467:C:G | A977P | 0.999 |
| 6:43348478:A:G | L973P | 0.999 |
| 6:43352412:A:G | L912P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000024783 (6:43369594 C>A,G,T), RS1000079955 (6:43360491 C>T), RS1000325969 (6:43354008 G>A), RS1000366317 (6:43371339 T>G), RS1000401212 (6:43354360 T>C), RS1000432787 (6:43357028 A>T), RS1000448600 (6:43365522 G>C), RS1000596621 (6:43339392 C>T), RS1000609991 (6:43348196 C>A,G), RS1000659884 (6:43352472 A>G), RS1000710939 (6:43369789 C>G,T), RS1000731553 (6:43352791 T>C), RS1000773188 (6:43365824 T>A,C), RS1000879762 (6:43335988 A>G), RS1000909595 (6:43346378 G>A)
Disease associations
OMIM: gene MIM:617512 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
46 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003272_2 | Systolic blood pressure | 2.000000e-16 |
| GCST004521_164 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004775_24 | Pulse pressure | 7.000000e-07 |
| GCST004776_25 | Systolic blood pressure | 3.000000e-06 |
| GCST005956_58 | Waist-to-hip ratio adjusted for BMI | 7.000000e-26 |
| GCST005957_1 | Waist-to-hip ratio adjusted for BMI (age <50) | 2.000000e-14 |
| GCST005958_2 | Waist-to-hip ratio adjusted for BMI (age >50) | 2.000000e-19 |
| GCST005962_2 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 3.000000e-31 |
| GCST005983_48 | Serum uric acid levels | 1.000000e-11 |
| GCST006168_31 | Pulse pressure x alcohol consumption interaction (2df test) | 2.000000e-16 |
| GCST006168_46 | Pulse pressure x alcohol consumption interaction (2df test) | 5.000000e-10 |
| GCST006259_53 | Systolic blood pressure | 5.000000e-09 |
| GCST006434_17 | Systolic blood pressure x alcohol consumption interaction (2df test) | 2.000000e-22 |
| GCST006434_84 | Systolic blood pressure x alcohol consumption interaction (2df test) | 3.000000e-11 |
| GCST006979_279 | Heel bone mineral density | 6.000000e-09 |
| GCST007096_154 | Pulse pressure | 4.000000e-08 |
| GCST007096_193 | Pulse pressure | 3.000000e-06 |
| GCST007099_135 | Systolic blood pressure | 1.000000e-09 |
| GCST007099_208 | Systolic blood pressure | 4.000000e-10 |
| GCST007267_216 | Systolic blood pressure | 3.000000e-24 |
| GCST007269_248 | Pulse pressure | 4.000000e-14 |
| GCST007576_192 | Chronotype | 3.000000e-09 |
| GCST007703_123 | Systolic blood pressure | 3.000000e-10 |
| GCST007704_49 | Diastolic blood pressure | 7.000000e-07 |
| GCST007705_7 | Pulse pressure | 4.000000e-06 |
| GCST007706_82 | Mean arterial pressure | 2.000000e-09 |
| GCST007707_44 | Hypertension | 4.000000e-07 |
| GCST007725_36 | Serum uric acid levels | 2.000000e-13 |
| GCST007928_43 | Medication use (diuretics) | 6.000000e-11 |
| GCST007929_73 | Medication use (calcium channel blockers) | 3.000000e-10 |
EFO canonical traits (18, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004761 | uric acid measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0009270 | heel bone mineral density |
| EFO:0008328 | chronotype measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006340 | mean arterial pressure |
| EFO:0009928 | Diuretic use measurement |
| EFO:0009930 | Calcium channel blocker use measurement |
| EFO:0009931 | Agents acting on the renin-angiotensin system use measurement |
| EFO:0004531 | urate measurement |
| EFO:1001976 | cardioembolic stroke |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| testosterone-3-carboxymethyloxime-bovine serum albumin conjugate | affects expression | 1 |
| deguelin | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Dronabinol | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypertensive disorder, presbycusis