ZNF618
gene geneOn this page
Also known as KIAA1952NEDD10
Summary
ZNF618 (zinc finger protein 618, HGNC:29416) is a protein-coding gene on chromosome 9q32, encoding Zinc finger protein 618 (Q5T7W0). Regulates UHRF2 function as a specific 5-hydroxymethylcytosine (5hmC) reader by regulating its chromatin localization.
Enables identical protein binding activity and transcription coregulator binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in pericentric heterochromatin.
Source: NCBI Gene 114991 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 147 total
- Druggable target: yes
- MANE Select transcript:
NM_001318042
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29416 |
| Approved symbol | ZNF618 |
| Name | zinc finger protein 618 |
| Location | 9q32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1952, NEDD10 |
| Ensembl gene | ENSG00000157657 |
| Ensembl biotype | protein_coding |
| OMIM | 617077 |
| Entrez | 114991 |
Gene structure
Transcript identifiers
Ensembl transcripts: 56 — 54 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000288466, ENST00000374124, ENST00000374126, ENST00000452710, ENST00000470105, ENST00000481558, ENST00000615615, ENST00000901577, ENST00000901578, ENST00000901579, ENST00000901580, ENST00000901581, ENST00000901582, ENST00000901583, ENST00000901584, ENST00000901585, ENST00000901586, ENST00000901587, ENST00000901588, ENST00000901589, ENST00000901590, ENST00000901591, ENST00000901592, ENST00000901593, ENST00000901594, ENST00000901595, ENST00000901596, ENST00000901597, ENST00000901598, ENST00000901599, ENST00000901600, ENST00000901601, ENST00000901602, ENST00000901603, ENST00000901604, ENST00000928181, ENST00000928182, ENST00000928183, ENST00000968394, ENST00000968395, ENST00000968396, ENST00000968397, ENST00000968398, ENST00000968399, ENST00000968400, ENST00000968401, ENST00000968402, ENST00000968403, ENST00000968404, ENST00000968405, ENST00000968406, ENST00000968407, ENST00000968408, ENST00000968409, ENST00000968410, ENST00000968411
RefSeq mRNA: 4 — MANE Select: NM_001318042
NM_001318040, NM_001318041, NM_001318042, NM_133374
CCDS: CCDS48008, CCDS83402, CCDS83403
Canonical transcript exons
ENST00000374126 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001462548 | 113998259 | 113998354 |
| ENSE00003480968 | 114016695 | 114016784 |
| ENSE00003492055 | 114008477 | 114008554 |
| ENSE00003498174 | 113969117 | 113969160 |
| ENSE00003507523 | 114001996 | 114002073 |
| ENSE00003524811 | 114048651 | 114056593 |
| ENSE00003529036 | 114047893 | 114047994 |
| ENSE00003585125 | 114036300 | 114036377 |
| ENSE00003590647 | 114032645 | 114032728 |
| ENSE00003590843 | 114008344 | 114008379 |
| ENSE00003626366 | 113988321 | 113988580 |
| ENSE00003636331 | 114007350 | 114007439 |
| ENSE00003654547 | 114002624 | 114002662 |
| ENSE00003661030 | 114028733 | 114028972 |
| ENSE00003932222 | 113876309 | 113876413 |
Expression profiles
Bgee: expression breadth ubiquitous, 222 present calls, max score 97.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9045 / max 96.6072, expressed in 1538 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98131 | 4.5402 | 1464 |
| 98132 | 1.3643 | 847 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.13 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.83 | gold quality |
| oocyte | CL:0000023 | 95.56 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.16 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.28 | silver quality |
| buccal mucosa cell | CL:0002336 | 92.71 | gold quality |
| renal medulla | UBERON:0000362 | 90.38 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 89.61 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.20 | gold quality |
| sural nerve | UBERON:0015488 | 87.90 | gold quality |
| caput epididymis | UBERON:0004358 | 86.23 | gold quality |
| cauda epididymis | UBERON:0004360 | 85.67 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.93 | gold quality |
| ventricular zone | UBERON:0003053 | 82.68 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 82.64 | gold quality |
| corpus epididymis | UBERON:0004359 | 81.84 | gold quality |
| metanephros | UBERON:0000081 | 81.65 | gold quality |
| pylorus | UBERON:0001166 | 81.46 | gold quality |
| cortex of kidney | UBERON:0001225 | 80.94 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.88 | gold quality |
| kidney | UBERON:0002113 | 80.78 | gold quality |
| tibia | UBERON:0000979 | 80.44 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 80.03 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.65 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 78.61 | gold quality |
| retina | UBERON:0000966 | 78.59 | gold quality |
| endometrium | UBERON:0001295 | 78.42 | gold quality |
| ovary | UBERON:0000992 | 78.16 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 78.02 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 78.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
192 targeting ZNF618, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
Literature-anchored findings (GeneRIF, showing 1)
- study suggests that ZNF618 is a key protein that regulates UHRF2 function as a specific 5hmC reader in vivo. (PMID:27129234)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | znf618 | ENSDARG00000071469 |
| mus_musculus | Zfp618 | ENSMUSG00000028358 |
| rattus_norvegicus | Zfp618 | ENSRNOG00000062890 |
| drosophila_melanogaster | Opbp | FBGN0050443 |
Paralogs (2): FIZ1 (ENSG00000179943), ZBTB44 (ENSG00000196323)
Protein
Protein identifiers
Zinc finger protein 618 — Q5T7W0 (reviewed: Q5T7W0)
All UniProt accessions (3): B1ALC2, B5MDS3, Q5T7W0
UniProt curated annotations — full annotation on UniProt →
Function. Regulates UHRF2 function as a specific 5-hydroxymethylcytosine (5hmC) reader by regulating its chromatin localization.
Subunit / interactions. Interacts with UHRF2.
Subcellular location. Nucleus. Chromosome.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T7W0-1 | 1 | yes |
| Q5T7W0-2 | 2 | |
| Q5T7W0-3 | 3 | |
| Q5T7W0-4 | 4 |
RefSeq proteins (4): NP_001304969, NP_001304970, NP_001304971, NP_588615 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012337 | RNaseH-like_sf | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
UniProt features (26 total): splice variant 6, zinc finger region 4, compositionally biased region 4, cross-link 4, region of interest 4, sequence conflict 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T7W0-F1 | 65.15 | 0.20 |
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 (5): 1, 63, 81, 239, 437
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 86 (showing top):
HORIUCHI_WTAP_TARGETS_DN, KOYAMA_SEMA3B_TARGETS_UP, LIAO_METASTASIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GOCC_CHROMOSOMAL_REGION, GOCC_PERICENTRIC_HETEROCHROMATIN, GOCC_HETEROCHROMATIN, GOMF_TRANSCRIPTION_COREGULATOR_BINDING, GOMF_TRANSCRIPTION_FACTOR_BINDING, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, DURAND_STROMA_S_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MIR6867_5P, MIR3658
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), chromatin organization (GO:0006325)
GO Molecular Function (7): transcription coregulator binding (GO:0001221), DNA binding (GO:0003677), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), chromatin-protein adaptor activity (GO:0140463), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), pericentric heterochromatin (GO:0005721), chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| cellular component organization | 1 |
| transcription factor binding | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| chromatin binding | 1 |
| chromatin organization | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| chromosome, centromeric region | 1 |
| heterochromatin | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
622 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF618 | SLC12A6 | Q9UHW9 | 564 |
| ZNF618 | NUTM1 | Q86Y26 | 528 |
| ZNF618 | CHD2 | O14647 | 521 |
| ZNF618 | CLVS1 | Q8IUQ0 | 512 |
| ZNF618 | N4BP2L1 | Q5TBK1 | 509 |
| ZNF618 | BRD9 | Q9H8M2 | 506 |
| ZNF618 | TMEM92 | Q6UXU6 | 491 |
| ZNF618 | NSD3 | Q9BZ95 | 480 |
| ZNF618 | ACIN1 | Q9UKV3 | 479 |
| ZNF618 | BRD3 | Q15059 | 471 |
| ZNF618 | MBTD1 | Q05BQ5 | 431 |
| ZNF618 | SLITRK6 | Q9H5Y7 | 429 |
| ZNF618 | PHF14 | O94880 | 428 |
| ZNF618 | TRIM28 | Q13263 | 414 |
| ZNF618 | ZNF688 | P0C7X2 | 408 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| CSNK1E | PER2 | psi-mi:“MI:0914”(association) | 0.850 |
| CSNK1D | PER2 | psi-mi:“MI:0914”(association) | 0.810 |
| CSNK1D | ZNF618 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CSNK1E | ZNF618 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ZNF576 | ZBED1 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF618 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| MID1 | ZNF618 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF618 | TBC1D13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF618 | ZNF618 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF618 | DPPA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF618 | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF618 | UBL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF618 | UBE2I | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF618 | G3BP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSNK1E | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| PCNA | ZNF618 | psi-mi:“MI:0915”(physical association) | 0.370 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| ODF2 | ELAPOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| PER2 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF4 | KPNA3 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM110D | NDUFA2 | psi-mi:“MI:0914”(association) | 0.350 |
| NUBP1 | YBEY | psi-mi:“MI:0914”(association) | 0.350 |
| SNX24 | GAPVD1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF618 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| CSNK1D | ZNF618 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MID1 | ZNF618 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (51): ZNF618 (Affinity Capture-RNA), ZNF618 (Affinity Capture-RNA), ZNF618 (Affinity Capture-MS), UHRF2 (Affinity Capture-MS), GAPVD1 (Affinity Capture-MS), RPL11 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), ZNF618 (Affinity Capture-MS), UHRF2 (Affinity Capture-Western), ZNF618 (Affinity Capture-Western), UHRF2 (Reconstituted Complex), ZNF618 (Reconstituted Complex), UHRF2 (Co-localization), ZNF618 (Affinity Capture-MS), ZNF618 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D5NVS8, A1L2U9, A2A891, A4IGQ8, A5PKF5, B1WAZ8, B5XCB8, E1BKK0, F1LMN3, O94972, P23804, P56950, P86174, Q0IH98, Q12766, Q14B70, Q58FA4, Q5NVM3, Q5RET9, Q5T7W0, Q5ZHN5, Q69ZF8, Q6A098, Q6IQ49, Q6IR68, Q6PCX9, Q6TGZ4, Q6YND2, Q6ZU67, Q7YRZ8, Q7Z7J5, Q7ZVU1, Q80YY7, Q8C0R0, Q8C4P0, Q8CII0, Q8K0L9, Q8N680, Q8N8K9, Q93073
Diamond homologs: Q5T7W0, Q80YY7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
147 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 122 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3672 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:113876412:AGGTA:A | donor_loss | 1.0000 |
| 9:113876413:GGTAC:G | donor_loss | 1.0000 |
| 9:113876414:GTACG:G | donor_loss | 1.0000 |
| 9:113988317:CCAG:C | acceptor_loss | 1.0000 |
| 9:113988318:CAGG:C | acceptor_loss | 1.0000 |
| 9:113988318:CAGGG:C | acceptor_gain | 1.0000 |
| 9:113988319:A:AG | acceptor_gain | 1.0000 |
| 9:113988319:AG:A | acceptor_gain | 1.0000 |
| 9:113988319:AGG:A | acceptor_gain | 1.0000 |
| 9:113988319:AGGGA:A | acceptor_gain | 1.0000 |
| 9:113988320:G:A | acceptor_gain | 1.0000 |
| 9:113988320:G:GA | acceptor_gain | 1.0000 |
| 9:113988320:GGG:G | acceptor_gain | 1.0000 |
| 9:113988320:GGGA:G | acceptor_gain | 1.0000 |
| 9:113988320:GGGAG:G | acceptor_gain | 1.0000 |
| 9:113988576:CCTTG:C | donor_gain | 1.0000 |
| 9:113988577:CTTG:C | donor_gain | 1.0000 |
| 9:113988578:TTG:T | donor_gain | 1.0000 |
| 9:113988579:TG:T | donor_gain | 1.0000 |
| 9:113988580:GG:G | donor_gain | 1.0000 |
| 9:113988581:G:GA | donor_loss | 1.0000 |
| 9:113988581:G:GG | donor_gain | 1.0000 |
| 9:113988582:TGAG:T | donor_loss | 1.0000 |
| 9:113988583:GAGT:G | donor_loss | 1.0000 |
| 9:114001991:TCCA:T | acceptor_loss | 1.0000 |
| 9:114001993:CAG:C | acceptor_loss | 1.0000 |
| 9:114001994:A:AG | acceptor_gain | 1.0000 |
| 9:114001994:AG:A | acceptor_gain | 1.0000 |
| 9:114001994:AGG:A | acceptor_gain | 1.0000 |
| 9:114001995:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
6274 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:113988541:T:C | C100R | 1.000 |
| 9:113988542:G:A | C100Y | 1.000 |
| 9:113988543:C:G | C100W | 1.000 |
| 9:114002007:T:A | C149S | 1.000 |
| 9:114002007:T:C | C149R | 1.000 |
| 9:114002008:G:A | C149Y | 1.000 |
| 9:114002008:G:C | C149S | 1.000 |
| 9:114002009:C:G | C149W | 1.000 |
| 9:114002016:T:A | C152S | 1.000 |
| 9:114002016:T:C | C152R | 1.000 |
| 9:114002017:G:A | C152Y | 1.000 |
| 9:114002017:G:C | C152S | 1.000 |
| 9:114002017:G:T | C152F | 1.000 |
| 9:114002018:T:G | C152W | 1.000 |
| 9:114002028:T:C | Y156H | 1.000 |
| 9:114002028:T:G | Y156D | 1.000 |
| 9:114002029:A:G | Y156C | 1.000 |
| 9:114002043:T:C | C161R | 1.000 |
| 9:114002044:G:A | C161Y | 1.000 |
| 9:114002045:C:G | C161W | 1.000 |
| 9:114002046:T:C | F162L | 1.000 |
| 9:114002047:T:C | F162S | 1.000 |
| 9:114002048:C:A | F162L | 1.000 |
| 9:114002048:C:G | F162L | 1.000 |
| 9:114002055:C:A | H165N | 1.000 |
| 9:114002055:C:G | H165D | 1.000 |
| 9:114002055:C:T | H165Y | 1.000 |
| 9:114002056:A:G | H165R | 1.000 |
| 9:114002057:C:A | H165Q | 1.000 |
| 9:114002057:C:G | H165Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001308 (9:114053722 C>T), RS1000013461 (9:113992290 G>A), RS1000015881 (9:113970507 C>T), RS1000041080 (9:114030918 C>G), RS1000046537 (9:113906209 C>G), RS1000053152 (9:113922802 A>G), RS1000068322 (9:113881863 T>C), RS1000075804 (9:113905948 C>A,T), RS1000122069 (9:113987249 T>A), RS1000128523 (9:113948742 T>C,G), RS1000141398 (9:114025828 A>C), RS1000150119 (9:113966304 A>G), RS1000180986 (9:114054321 A>C,G), RS1000187357 (9:113888241 C>A), RS1000200267 (9:113931639 G>A)
Disease associations
OMIM: gene MIM:617077 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003560_4 | Coronary artery aneurysm in Kawasaki disease | 2.000000e-07 |
| GCST005648_6 | Serum metabolite concentrations in chronic kidney disease | 2.000000e-08 |
| GCST006629_71 | Pulse pressure | 9.000000e-17 |
| GCST006987_2 | Neutrophil level response to clozapine in treatment-resistant schizophrenia | 9.000000e-09 |
| GCST007204_4 | Low density lipoprotein cholesterol levels | 9.000000e-06 |
| GCST007267_125 | Systolic blood pressure | 2.000000e-10 |
| GCST007269_107 | Pulse pressure | 5.000000e-16 |
| GCST007324_117 | Adventurousness | 2.000000e-08 |
| GCST007325_242 | General risk tolerance (MTAG) | 2.000000e-09 |
| GCST007576_231 | Chronotype | 7.000000e-09 |
| GCST008529_30 | Tea consumption | 4.000000e-06 |
| GCST012170_12 | Cognitive function in longevity | 8.000000e-06 |
| GCST012490_268 | Femur bone mineral density x serum urate levels interaction | 2.000000e-08 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0004833 | neutrophil count |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0010091 | tea consumption measurement |
| EFO:0008354 | cognitive function measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725046 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 8 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| bisphenol A | decreases methylation, increases expression, affects cotreatment | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cyclosporine | decreases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases methylation, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| tobacco tar | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697554 | Binding | Inhibition of ZNF618 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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): coronary aneurysm