ZC3H18
geneOn this page
Also known as NHN1
Summary
ZC3H18 (zinc finger CCCH-type containing 18, HGNC:25091) is a protein-coding gene on chromosome 16q24.2, encoding Zinc finger CCCH domain-containing protein 18 (Q86VM9). It is a selective cancer dependency (DepMap: 73.7% of cell lines).
Enables mRNA cap binding complex binding activity and protein-macromolecule adaptor activity. Involved in RNA destabilization. Located in nuclear speck. Part of ribonucleoprotein complex.
Source: NCBI Gene 124245 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 182 total — 1 pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 73.7% of screened cell lines
- MANE Select transcript:
NM_144604
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25091 |
| Approved symbol | ZC3H18 |
| Name | zinc finger CCCH-type containing 18 |
| Location | 16q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NHN1 |
| Ensembl gene | ENSG00000158545 |
| Ensembl biotype | protein_coding |
| Entrez | 124245 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 17 protein_coding, 6 retained_intron
ENST00000301011, ENST00000452588, ENST00000563382, ENST00000564161, ENST00000564341, ENST00000565583, ENST00000566317, ENST00000566496, ENST00000566660, ENST00000567085, ENST00000568072, ENST00000569435, ENST00000867278, ENST00000867279, ENST00000867280, ENST00000867281, ENST00000929536, ENST00000929537, ENST00000929538, ENST00000967030, ENST00000967031, ENST00000967032, ENST00000967033
RefSeq mRNA: 2 — MANE Select: NM_144604
NM_001294340, NM_144604
CCDS: CCDS10967, CCDS73924
Canonical transcript exons
ENST00000301011 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001113653 | 88599791 | 88599948 |
| ENSE00001113654 | 88570403 | 88570566 |
| ENSE00001113660 | 88608934 | 88609051 |
| ENSE00001113662 | 88598620 | 88598712 |
| ENSE00001113671 | 88586600 | 88586684 |
| ENSE00001120966 | 88598178 | 88598326 |
| ENSE00001366026 | 88577110 | 88577726 |
| ENSE00001885661 | 88631101 | 88631964 |
| ENSE00002470017 | 88623958 | 88624062 |
| ENSE00002480492 | 88627622 | 88627782 |
| ENSE00002495146 | 88625202 | 88625267 |
| ENSE00002498562 | 88622197 | 88622388 |
| ENSE00002508148 | 88624602 | 88624745 |
| ENSE00002522866 | 88623219 | 88623344 |
| ENSE00003514896 | 88628758 | 88628854 |
| ENSE00003559614 | 88611268 | 88611536 |
| ENSE00003584956 | 88627920 | 88628119 |
| ENSE00003611550 | 88630485 | 88630581 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 94.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7214 / max 244.7140, expressed in 1815 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155536 | 23.4639 | 1812 |
| 155537 | 0.8848 | 602 |
| 155538 | 0.7451 | 377 |
| 208004 | 0.6276 | 393 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 94.24 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.83 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.50 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.36 | gold quality |
| right testis | UBERON:0004534 | 92.26 | gold quality |
| left testis | UBERON:0004533 | 92.19 | gold quality |
| granulocyte | CL:0000094 | 91.74 | gold quality |
| cerebellum | UBERON:0002037 | 91.48 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.89 | gold quality |
| spleen | UBERON:0002106 | 90.59 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.56 | gold quality |
| testis | UBERON:0000473 | 90.10 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.06 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.97 | gold quality |
| apex of heart | UBERON:0002098 | 89.90 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 89.85 | gold quality |
| lower esophagus | UBERON:0013473 | 89.82 | gold quality |
| body of uterus | UBERON:0009853 | 89.77 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.65 | gold quality |
| bone marrow cell | CL:0002092 | 89.64 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.64 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.59 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.56 | gold quality |
| left uterine tube | UBERON:0001303 | 89.52 | gold quality |
| ventricular zone | UBERON:0003053 | 89.48 | gold quality |
| right ovary | UBERON:0002118 | 89.38 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.27 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 89.20 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.10 | gold quality |
| embryo | UBERON:0000922 | 89.09 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting ZC3H18, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-644A | 96.02 | 66.52 | 786 |
| HSA-MIR-4524B-3P | 95.52 | 64.12 | 964 |
| HSA-MIR-3672 | 94.46 | 65.67 | 646 |
| HSA-MIR-6864-3P | 94.46 | 65.97 | 625 |
| HSA-MIR-604 | 93.13 | 64.42 | 299 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 73.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- examination of ZC3H18 function, by genome-wide analyses, demonstrated its impact on transcription of a subset of protein-coding genes. This activity requires the CBC-interacting domain of the protein, with some genes being also dependent on the NEXT- and/or histone-interacting domains. (PMID:29298432)
- ZC3H18 copy number losses could contribute to homologous recombination defects in high-grade serous ovarian cancers. (PMID:31604914)
- NCBP3 positively impacts mRNA biogenesis. (PMID:32960271)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zc3h18 | ENSDARG00000062506 |
| mus_musculus | Zc3h18 | ENSMUSG00000017478 |
| rattus_norvegicus | Zc3h18 | ENSRNOG00000028501 |
| drosophila_melanogaster | CG1677 | FBGN0029941 |
| drosophila_melanogaster | CG31601 | FBGN0051601 |
Paralogs (2): PPP1R10 (ENSG00000204569), PRR3 (ENSG00000204576)
Protein
Protein identifiers
Zinc finger CCCH domain-containing protein 18 — Q86VM9 (reviewed: Q86VM9)
Alternative names: Nuclear protein NHN1
All UniProt accessions (6): E7ERS3, Q86VM9, H3BP01, H3BPD0, H3BRH3, H3BRN6
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with ZFC3H1 in a RNase-insensitive manner.
Subcellular location. Nucleus.
RefSeq proteins (2): NP_001281269, NP_653205* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR036855 | Znf_CCCH_sf | Homologous_superfamily |
| IPR041367 | Znf-CCCH_4 | Domain |
| IPR052647 | Zinc_finger_CCCH-type | Family |
Pfam: PF18044
UniProt features (65 total): modified residue 27, compositionally biased region 22, cross-link 6, coiled-coil region 3, region of interest 2, sequence variant 2, chain 1, zinc finger region 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9T3X | ELECTRON MICROSCOPY | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86VM9-F1 | 53.22 | 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): 1, 6, 34, 46, 53, 59, 67, 74, 78, 83, 95, 109, 110, 118, 162, 173, 179, 487, 532, 534 …
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9930044 | Nuclear RNA decay |
MSigDB gene sets: 91 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, NIKOLSKY_BREAST_CANCER_16Q24_AMPLICON, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, TGIF_01, ATTCTTT_MIR186, AACTTT_UNKNOWN, CREB_Q3, PTF1BETA_Q6, REACTOME_METABOLISM_OF_RNA, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY
GO Biological Process (1): RNA destabilization (GO:0050779)
GO Molecular Function (6): RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein-macromolecule adaptor activity (GO:0030674), mRNA cap binding complex binding (GO:0140262), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): nucleoplasm (GO:0005654), nuclear speck (GO:0016607), protein-containing complex (GO:0032991), ribonucleoprotein complex (GO:1990904), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA catabolic process | 1 |
| positive regulation of catabolic process | 1 |
| regulation of RNA stability | 1 |
| positive regulation of RNA metabolic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
| cellular_component | 1 |
| protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2971 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZC3H18 | THOC2 | Q8NI27 | 713 |
| ZC3H18 | SLAIN2 | Q9P270 | 528 |
| ZC3H18 | ZCCHC8 | Q6NZY4 | 512 |
| ZC3H18 | ALYREF | Q86V81 | 509 |
| ZC3H18 | RBM7 | Q9Y580 | 475 |
| ZC3H18 | SLBP | Q14493 | 466 |
| ZC3H18 | MTREX | P42285 | 413 |
| ZC3H18 | NCBP1 | Q09161 | 397 |
| ZC3H18 | SRRT | Q9BXP5 | 393 |
| ZC3H18 | ZFC3H1 | O60293 | 380 |
| ZC3H18 | LEMD2 | Q8NC56 | 358 |
| ZC3H18 | TTC14 | Q96N46 | 349 |
| ZC3H18 | PHAX | Q9H814 | 348 |
| ZC3H18 | FRYL | O94915 | 347 |
| ZC3H18 | NCBP2 | P52298 | 325 |
| ZC3H18 | TMEM132D | Q14C87 | 325 |
IntAct
229 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ZC3H18 | E | psi-mi:“MI:0915”(physical association) | 0.660 |
| CARNMT1 | NUP42 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| BCOR | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| PCGF1 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| PTGER3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| ERMAP | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| GSPT2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RSBN1 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H18 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF816 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF214 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| E | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| SUPT5H | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (1141): ZC3H18 (Affinity Capture-RNA), ZC3H18 (Affinity Capture-RNA), ZC3H18 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), ZC3H18 (Affinity Capture-MS), RNPS1 (Co-fractionation), RPL6 (Co-fractionation), RTF1 (Co-fractionation), SLC3A2 (Co-fractionation), SRRM2 (Co-fractionation), ZC3H18 (Co-fractionation), ZC3H18 (Co-fractionation)
ESM2 similar proteins: A2A6A1, B0BN49, B0QZF7, D2H526, E1BB50, E9PYH6, E9Q4F7, E9Q6J5, F1Q8W0, O15047, O88453, P30414, P30415, Q01538, Q14AX6, Q17QQ9, Q27450, Q3KPW4, Q3UMU9, Q4V8I5, Q505I5, Q5BKY9, Q5SW79, Q5VZP5, Q62417, Q66648, Q66PJ3, Q6A065, Q6P9P0, Q6UB99, Q7TQC7, Q7Z4V5, Q80U49, Q86VM9, Q8BYK8, Q8C5W0, Q8CFC2, Q8NEY8, Q8R0F5, Q8R2M2
Diamond homologs: Q0P678, Q1LUE5, Q6TQE1, Q86VM9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 209 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 10 | 26.2× | 1e-10 |
| mRNA Splicing | 29 | 22.0× | 3e-29 |
| RNA Polymerase II Transcription Termination | 13 | 19.7× | 4e-12 |
| mRNA 3’-end processing | 14 | 19.0× | 9e-13 |
| Processing of Capped Intron-Containing Pre-mRNA | 32 | 18.1× | 2e-29 |
| mRNA Polyadenylation | 29 | 17.6× | 3e-26 |
| mRNA Splicing - Minor Pathway | 11 | 17.0× | 2e-09 |
| mRNA Splicing - Major Pathway | 43 | 16.2× | 4e-38 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 7 | 28.7× | 5e-07 |
| U2-type prespliceosome assembly | 8 | 26.7× | 8e-08 |
| mRNA cis splicing, via spliceosome | 5 | 26.5× | 9e-05 |
| mRNA splice site recognition | 6 | 25.8× | 1e-05 |
| positive regulation of transcription by RNA polymerase III | 5 | 25.0× | 1e-04 |
| regulation of mRNA splicing, via spliceosome | 5 | 23.7× | 1e-04 |
| alternative mRNA splicing, via spliceosome | 6 | 21.6× | 3e-05 |
| RNA splicing, via transesterification reactions | 5 | 16.7× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
182 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 146 |
| Likely benign | 10 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 267482 | Single allele | Pathogenic |
SpliceAI
3618 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:88570502:G:T | donor_gain | 1.0000 |
| 16:88570533:G:T | donor_gain | 1.0000 |
| 16:88570562:CTGAG:C | donor_loss | 1.0000 |
| 16:88570563:TGAGG:T | donor_loss | 1.0000 |
| 16:88570567:G:T | donor_loss | 1.0000 |
| 16:88577104:TTGCA:T | acceptor_loss | 1.0000 |
| 16:88577105:TGCAG:T | acceptor_loss | 1.0000 |
| 16:88577106:GCAG:G | acceptor_loss | 1.0000 |
| 16:88577107:CAGA:C | acceptor_loss | 1.0000 |
| 16:88577108:A:AG | acceptor_gain | 1.0000 |
| 16:88577108:A:G | acceptor_loss | 1.0000 |
| 16:88577109:G:GT | acceptor_gain | 1.0000 |
| 16:88577109:G:T | acceptor_loss | 1.0000 |
| 16:88577109:GA:G | acceptor_gain | 1.0000 |
| 16:88577109:GAA:G | acceptor_gain | 1.0000 |
| 16:88577109:GAAC:G | acceptor_gain | 1.0000 |
| 16:88577109:GAACC:G | acceptor_gain | 1.0000 |
| 16:88577724:GAC:G | donor_gain | 1.0000 |
| 16:88577727:G:GG | donor_gain | 1.0000 |
| 16:88586593:GTTTC:G | acceptor_loss | 1.0000 |
| 16:88586594:TTTCA:T | acceptor_loss | 1.0000 |
| 16:88586595:TTCA:T | acceptor_loss | 1.0000 |
| 16:88586596:TCA:T | acceptor_loss | 1.0000 |
| 16:88586597:CA:C | acceptor_loss | 1.0000 |
| 16:88586598:A:AG | acceptor_gain | 1.0000 |
| 16:88586598:AG:A | acceptor_gain | 1.0000 |
| 16:88586598:AGGAT:A | acceptor_gain | 1.0000 |
| 16:88586599:G:GG | acceptor_gain | 1.0000 |
| 16:88586599:GG:G | acceptor_gain | 1.0000 |
| 16:88586599:GGA:G | acceptor_gain | 1.0000 |
AlphaMissense
6171 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:88577506:T:C | L128P | 1.000 |
| 16:88586610:T:C | L205P | 1.000 |
| 16:88586618:G:C | G208R | 1.000 |
| 16:88586666:T:A | C224S | 1.000 |
| 16:88586666:T:C | C224R | 1.000 |
| 16:88586667:G:A | C224Y | 1.000 |
| 16:88586667:G:C | C224S | 1.000 |
| 16:88586667:G:T | C224F | 1.000 |
| 16:88586668:C:G | C224W | 1.000 |
| 16:88586672:T:C | F226L | 1.000 |
| 16:88586673:T:C | F226S | 1.000 |
| 16:88586673:T:G | F226C | 1.000 |
| 16:88586674:C:A | F226L | 1.000 |
| 16:88586674:C:G | F226L | 1.000 |
| 16:88586675:T:C | F227L | 1.000 |
| 16:88586677:C:A | F227L | 1.000 |
| 16:88586677:C:G | F227L | 1.000 |
| 16:88598183:T:A | C232S | 1.000 |
| 16:88598183:T:C | C232R | 1.000 |
| 16:88598183:T:G | C232G | 1.000 |
| 16:88598184:G:A | C232Y | 1.000 |
| 16:88598184:G:C | C232S | 1.000 |
| 16:88598184:G:T | C232F | 1.000 |
| 16:88598185:T:G | C232W | 1.000 |
| 16:88598189:T:A | W234R | 1.000 |
| 16:88598189:T:C | W234R | 1.000 |
| 16:88598191:G:C | W234C | 1.000 |
| 16:88598191:G:T | W234C | 1.000 |
| 16:88598201:T:A | C238S | 1.000 |
| 16:88598201:T:C | C238R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000072044 (16:88573547 T>G), RS1000077952 (16:88591407 T>G), RS1000129377 (16:88569497 T>A,C), RS1000192329 (16:88631580 C>T), RS1000223768 (16:88620842 A>T), RS1000229817 (16:88597884 T>C), RS1000250377 (16:88627236 A>G), RS1000304406 (16:88627082 G>A,C), RS1000317096 (16:88581036 C>T), RS1000322433 (16:88571590 C>G,T), RS1000329421 (16:88593303 C>T), RS1000329528 (16:88575828 G>A), RS1000336143 (16:88604596 G>C), RS1000383251 (16:88593445 A>C,G), RS1000402179 (16:88573342 A>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): 16q24.3 microdeletion syndrome (MONDO:0016838)
Orphanet (1): 16q24.3 microdeletion syndrome (Orphanet:261250)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003479_9 | Hair color | 1.000000e-07 |
| GCST008154_28 | Trunk fat mass | 4.000000e-06 |
| GCST010396_212 | Gut microbiota (bacterial taxa, hurdle binary method) | 4.000000e-06 |
| GCST90002392_515 | Mean corpuscular volume | 2.000000e-10 |
| GCST90002394_505 | Monocyte percentage of white cells | 9.000000e-12 |
| GCST90002397_720 | Mean spheric corpuscular volume | 1.000000e-09 |
| GCST90002399_275 | Neutrophil percentage of white cells | 5.000000e-12 |
| GCST90002400_193 | Plateletcrit | 1.000000e-11 |
| GCST90002402_477 | Platelet count | 5.000000e-13 |
| GCST90011899_11 | Aspartate aminotransferase levels | 1.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725041 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.09 | Kd | 8.216 | nM | CHEMBL5653589 |
| 8.09 | ED50 | 8.216 | nM | CHEMBL5653589 |
| 7.52 | IC50 | 30 | nM | MOLIBRESIB |
| 7.47 | Kd | 34 | nM | MOLIBRESIB |
PubChem BioAssay actives
3 with measured affinity, of 9 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149807: Binding affinity to human ZC3H18 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0082 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178521: Inhibition of ZC3H18 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.0300 | uM |
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 4 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | affects sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| cupric chloride | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| cylindrospermopsin | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases methylation | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652849 | Binding | Binding affinity to human ZC3H18 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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): 16q24.3 microdeletion syndrome