ZNF587
gene geneOn this page
Also known as ZF6FLJ14710UBF-flFLJ20813
Summary
ZNF587 (zinc finger protein 587, HGNC:30955) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 587 (Q96SQ5). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 84914 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 97 total
- MANE Select transcript:
NM_032828
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30955 |
| Approved symbol | ZNF587 |
| Name | zinc finger protein 587 |
| Location | 19q13.43 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZF6, FLJ14710, UBF-fl, FLJ20813 |
| Ensembl gene | ENSG00000198466 |
| Ensembl biotype | protein_coding |
| OMIM | 621275 |
| Entrez | 84914 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000339656, ENST00000419854, ENST00000423137, ENST00000484707, ENST00000596433, ENST00000859086
RefSeq mRNA: 2 — MANE Select: NM_032828
NM_001204817, NM_032828
CCDS: CCDS12964, CCDS56110
Canonical transcript exons
ENST00000339656 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001409152 | 57858576 | 57865117 |
| ENSE00003503170 | 57856104 | 57856233 |
| ENSE00003652091 | 57849859 | 57850071 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 93.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.7941 / max 139.8894, expressed in 1726 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 177803 | 5.8776 | 1681 |
| 177805 | 1.9165 | 807 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pylorus | UBERON:0001166 | 93.60 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.92 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.76 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.38 | gold quality |
| caput epididymis | UBERON:0004358 | 92.18 | gold quality |
| cardia of stomach | UBERON:0001162 | 92.04 | gold quality |
| cauda epididymis | UBERON:0004360 | 91.54 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.37 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 90.94 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.75 | gold quality |
| nipple | UBERON:0002030 | 90.08 | gold quality |
| renal medulla | UBERON:0000362 | 89.62 | gold quality |
| jejunum | UBERON:0002115 | 89.51 | gold quality |
| trachea | UBERON:0003126 | 89.45 | gold quality |
| oral cavity | UBERON:0000167 | 89.13 | gold quality |
| colonic mucosa | UBERON:0000317 | 89.12 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.73 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.23 | gold quality |
| ventral tegmental area | UBERON:0002691 | 87.96 | gold quality |
| pericardium | UBERON:0002407 | 87.82 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 87.79 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 87.46 | gold quality |
| mammary duct | UBERON:0001765 | 87.41 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 87.35 | gold quality |
| lower lobe of lung | UBERON:0008949 | 87.26 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 87.16 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 87.08 | gold quality |
| corpus callosum | UBERON:0002336 | 86.88 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 86.64 | silver quality |
| upper leg skin | UBERON:0004262 | 86.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.79 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
194 targeting ZNF587, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| 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-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-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
Literature-anchored findings (GeneRIF, showing 2)
- MiRNA-4537 functions as a tumor suppressor in gastric cancer and increases the radiosensitivity of gastric cancer cells. (PMID:34670480)
- The long non-sacoding RNA TMEM147-AS1/miR-133b/ZNF587 axis regulates the Warburg effect and promotes prostatic carcinoma invasion and proliferation. (PMID:36181243)
Cross-species orthologs
0 orthologs
Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391)
Protein
Protein identifiers
Zinc finger protein 587 — Q96SQ5 (reviewed: Q96SQ5)
All UniProt accessions (1): Q96SQ5
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96SQ5-1 | 1 | yes |
| Q96SQ5-2 | 2 |
RefSeq proteins (2): NP_001191746, NP_116217* (*=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 (18 total): zinc finger region 13, chain 1, domain 1, region of interest 1, compositionally biased region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96SQ5-F1 | 66.82 | 0.27 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 86 (showing top):
CAGCAGG_MIR370, FISCHER_G2_M_CELL_CYCLE, MODULE_480, MODULE_301, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, CHANDRAN_METASTASIS_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, MODULE_427, NUYTTEN_EZH2_TARGETS_DN, MODULE_192, CHANDRAN_METASTASIS_TOP50_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_UP
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), 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 |
|---|---|
| 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 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
612 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF587 | CYSRT1 | A8MQ03 | 589 |
| ZNF587 | ZBTB14 | O43829 | 589 |
| ZNF587 | IKZF3 | Q9UKT9 | 558 |
| ZNF587 | TRAF1 | Q13077 | 433 |
| ZNF587 | YIPF1 | Q9Y548 | 415 |
| ZNF587 | IKZF2 | Q9UKS7 | 397 |
| ZNF587 | ZFYVE21 | Q9BQ24 | 349 |
| ZNF587 | G3V325 | G3V325 | 305 |
| ZNF587 | LRRC66 | Q68CR7 | 297 |
| ZNF587 | AADAT | Q8N5Z0 | 289 |
| ZNF587 | TLCD2 | A6NGC4 | 287 |
| ZNF587 | CCDC125 | Q86Z20 | 286 |
| ZNF587 | KIAA1328 | Q86T90 | 277 |
| ZNF587 | TRIM28 | Q13263 | 275 |
| ZNF587 | GATD1 | Q8NB37 | 271 |
IntAct
470 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF587 | PRPF31 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-5 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TNS2 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| FSD2 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| STX11 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP5-9 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRAF1 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | TRIM41 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBTB8A | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | MDFI | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM54 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CEP44 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MID2 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PNMA2 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PRPF31 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | KRTAP10-5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | STX11 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-7 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-8 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-9 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF587 | TRAF1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRT40 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (161): ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid), ZNF587 (Two-hybrid)
ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A3KN32, B2RUI1, O43296, O75123, P10072, P17020, P17097, P51814, P52736, P52740, Q07230, Q08ER8, Q13398, Q14590, Q32KN0, Q3KQV3, Q3MIS6, Q4V8A8, Q5CZA5, Q5RBQ3, Q5RBX0, Q5RCD9, Q5RCX4, Q6GQR8, Q6NX45, Q6P9A3, Q6PK81, Q7TSH9, Q7TSI0, Q7Z7L9, Q86UD4, Q8BFS8, Q8BLB0, Q8IVP9, Q8IZ26, Q8N9F8
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
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 68 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 |
|---|---|---|---|
| Keratinization | 13 | 19.1× | 9e-12 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 6 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
873 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:57850069:CAG:C | donor_loss | 1.0000 |
| 19:57850072:GTA:G | donor_loss | 1.0000 |
| 19:57850073:T:G | donor_loss | 0.9900 |
| 19:57853852:TTC:T | donor_gain | 0.9900 |
| 19:57858570:TTTCA:T | acceptor_loss | 0.9900 |
| 19:57858571:TTCAG:T | acceptor_loss | 0.9900 |
| 19:57858572:TCAGG:T | acceptor_loss | 0.9900 |
| 19:57858573:CA:C | acceptor_loss | 0.9900 |
| 19:57858574:A:AG | acceptor_gain | 0.9900 |
| 19:57858574:A:C | acceptor_loss | 0.9900 |
| 19:57858575:G:GG | acceptor_gain | 0.9900 |
| 19:57860196:A:T | donor_gain | 0.9900 |
| 19:57858574:A:G | acceptor_loss | 0.9800 |
| 19:57858575:G:GA | acceptor_loss | 0.9800 |
| 19:57858575:GGTT:G | acceptor_gain | 0.9800 |
| 19:57850072:G:GG | donor_gain | 0.9700 |
| 19:57853885:AGCT:A | donor_gain | 0.9700 |
| 19:57856229:GCTGG:G | donor_gain | 0.9700 |
| 19:57860267:GTCT:G | donor_gain | 0.9700 |
| 19:57860268:TCTT:T | donor_gain | 0.9700 |
| 19:57850032:T:TA | donor_gain | 0.9600 |
| 19:57850033:A:AA | donor_gain | 0.9600 |
| 19:57856230:CTGGG:C | donor_loss | 0.9600 |
| 19:57856231:TGGGT:T | donor_loss | 0.9600 |
| 19:57856232:GG:G | donor_gain | 0.9600 |
| 19:57856232:GGGT:G | donor_loss | 0.9600 |
| 19:57856232:GGGTA:G | donor_loss | 0.9600 |
| 19:57856233:GG:G | donor_gain | 0.9600 |
| 19:57856233:GGT:G | donor_loss | 0.9600 |
| 19:57856234:G:GA | donor_loss | 0.9600 |
AlphaMissense
3829 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:57859577:T:C | F389L | 0.998 |
| 19:57859579:T:A | F389L | 0.998 |
| 19:57859579:T:G | F389L | 0.998 |
| 19:57859409:T:C | F333L | 0.996 |
| 19:57859411:T:A | F333L | 0.996 |
| 19:57859411:T:G | F333L | 0.996 |
| 19:57859661:T:C | F417L | 0.996 |
| 19:57859663:T:A | F417L | 0.996 |
| 19:57859663:T:G | F417L | 0.996 |
| 19:57859997:T:C | F529L | 0.996 |
| 19:57859999:T:A | F529L | 0.996 |
| 19:57859999:T:G | F529L | 0.996 |
| 19:57859325:T:C | F305L | 0.995 |
| 19:57859327:T:A | F305L | 0.995 |
| 19:57859327:T:G | F305L | 0.995 |
| 19:57859913:T:C | F501L | 0.995 |
| 19:57859915:T:A | F501L | 0.995 |
| 19:57859915:T:G | F501L | 0.995 |
| 19:57859745:T:C | F445L | 0.994 |
| 19:57859747:T:A | F445L | 0.994 |
| 19:57859747:T:G | F445L | 0.994 |
| 19:57860081:T:C | F557L | 0.993 |
| 19:57860083:T:A | F557L | 0.993 |
| 19:57860083:T:G | F557L | 0.993 |
| 19:57859604:C:G | H398D | 0.992 |
| 19:57859606:T:A | H398Q | 0.992 |
| 19:57859606:T:G | H398Q | 0.992 |
| 19:57859493:T:C | F361L | 0.991 |
| 19:57859495:T:A | F361L | 0.991 |
| 19:57859495:T:G | F361L | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000050071 (19:57851076 G>A), RS1000292244 (19:57862517 G>A,T), RS1000663840 (19:57862703 A>G), RS1000994534 (19:57855146 T>C), RS1001038005 (19:57863351 C>CAG), RS1001049035 (19:57859578 T>C), RS1001078746 (19:57859316 G>A), RS1001383976 (19:57854787 T>A), RS1002000978 (19:57847927 C>T), RS1002992217 (19:57856899 G>A,T), RS1003080602 (19:57861302 T>C), RS1003424715 (19:57862289 T>C), RS1003653377 (19:57849549 G>A), RS1003723786 (19:57853819 C>T), RS1003737907 (19:57857694 G>A)
Disease associations
OMIM: gene MIM:621275 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005173_2 | Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004723 | coronary artery calcification |
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 |
|---|---|---|
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| pyrimidifen | decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.