ST18
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Also known as KIAA0535ZC2HC10NZF3NZF-3ZC2H2C3
Summary
ST18 (ST18 C2H2C-type zinc finger transcription factor, HGNC:18695) is a protein-coding gene on chromosome 8q11.23, encoding Suppression of tumorigenicity 18 protein (O60284). Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5’-AAAGTTT-3’ separated by 2-9 nucleotides.
Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in cytokine-mediated signaling pathway; negative regulation of cell population proliferation; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of protein-DNA complex.
Source: NCBI Gene 9705 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 158 total
- MANE Select transcript:
NM_001352837
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18695 |
| Approved symbol | ST18 |
| Name | ST18 C2H2C-type zinc finger transcription factor |
| Location | 8q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0535, ZC2HC10, NZF3, NZF-3, ZC2H2C3 |
| Ensembl gene | ENSG00000147488 |
| Ensembl biotype | protein_coding |
| OMIM | 617155 |
| Entrez | 9705 |
Gene structure
Transcript identifiers
Ensembl transcripts: 35 — 14 protein_coding, 11 protein_coding_CDS_not_defined, 7 retained_intron, 3 nonsense_mediated_decay
ENST00000276480, ENST00000517456, ENST00000517580, ENST00000518037, ENST00000518053, ENST00000518453, ENST00000518501, ENST00000518545, ENST00000519118, ENST00000519201, ENST00000520257, ENST00000520279, ENST00000520716, ENST00000520811, ENST00000521119, ENST00000521549, ENST00000521582, ENST00000521824, ENST00000522102, ENST00000522251, ENST00000522861, ENST00000523652, ENST00000524078, ENST00000524183, ENST00000689386, ENST00000693301, ENST00000699087, ENST00000874147, ENST00000874148, ENST00000874149, ENST00000874150, ENST00000874151, ENST00000874152, ENST00000874153, ENST00000874154
RefSeq mRNA: 59 — MANE Select: NM_001352837
NM_001352826, NM_001352827, NM_001352828, NM_001352829, NM_001352830, NM_001352831, NM_001352832, NM_001352833, NM_001352834, NM_001352835, NM_001352836, NM_001352837, NM_001352838, NM_001352839, NM_001352840, NM_001352841, NM_001352842, NM_001352843, NM_001352844, NM_001352845, NM_001352846, NM_001352847, NM_001352848, NM_001352849, NM_001352850, NM_001352851, NM_001352852, NM_001352853, NM_001352854, NM_001352855, NM_001352856, NM_001352857, NM_001352858, NM_001352859, NM_001352860, NM_001352861, NM_001352862, NM_001352863, NM_001352864, NM_001352865, NM_001352866, NM_001352867, NM_001352868, NM_001352869, NM_001352870, NM_001352871, NM_001352872, NM_001352873, NM_001352874, NM_001352875, NM_001352876, NM_001352877, NM_001352878, NM_001352879, NM_001352880, NM_001352882, NM_001352883, NM_001352884, NM_014682
CCDS: CCDS6149
Canonical transcript exons
ENST00000689386 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001019604 | 52217746 | 52217901 |
| ENSE00001251003 | 52220741 | 52220848 |
| ENSE00001251007 | 52221640 | 52221793 |
| ENSE00001251017 | 52230032 | 52230077 |
| ENSE00001294032 | 52409328 | 52409452 |
| ENSE00003460130 | 52116275 | 52116418 |
| ENSE00003475621 | 52131958 | 52132179 |
| ENSE00003477738 | 52165135 | 52165225 |
| ENSE00003487228 | 52133057 | 52133137 |
| ENSE00003510513 | 52149732 | 52149977 |
| ENSE00003552032 | 52126052 | 52126140 |
| ENSE00003558320 | 52161375 | 52161568 |
| ENSE00003564654 | 52180122 | 52180312 |
| ENSE00003579355 | 52166852 | 52166986 |
| ENSE00003586802 | 52212079 | 52212109 |
| ENSE00003618594 | 52137421 | 52137483 |
| ENSE00003633221 | 52133239 | 52133301 |
| ENSE00003636385 | 52171792 | 52172583 |
| ENSE00003646784 | 52163986 | 52164090 |
| ENSE00003647128 | 52158898 | 52159109 |
| ENSE00003652254 | 52118338 | 52118441 |
| ENSE00003657268 | 52214203 | 52214257 |
| ENSE00003662572 | 52136590 | 52136658 |
| ENSE00003679380 | 52142930 | 52143045 |
| ENSE00003928828 | 52110838 | 52113338 |
| ENSE00003928849 | 52409548 | 52409756 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 98.56.
FANTOM5 (CAGE): breadth broad, TPM avg 7.7739 / max 1573.9504, expressed in 338 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93045 | 3.3888 | 88 |
| 93046 | 1.6517 | 85 |
| 93033 | 1.1199 | 111 |
| 93031 | 0.4949 | 60 |
| 93051 | 0.3984 | 127 |
| 93048 | 0.1490 | 50 |
| 93034 | 0.1293 | 31 |
| 93047 | 0.1293 | 55 |
| 93052 | 0.1250 | 55 |
| 93030 | 0.0956 | 30 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus callosum | UBERON:0002336 | 98.56 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.94 | gold quality |
| spinal cord | UBERON:0002240 | 96.18 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.93 | gold quality |
| medial globus pallidus | UBERON:0002477 | 93.84 | gold quality |
| globus pallidus | UBERON:0001875 | 93.68 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.19 | gold quality |
| cerebellum | UBERON:0002037 | 92.60 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.52 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.45 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.40 | gold quality |
| pons | UBERON:0000988 | 92.01 | gold quality |
| medulla oblongata | UBERON:0001896 | 91.88 | gold quality |
| inferior olivary complex | UBERON:0002127 | 91.35 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.26 | gold quality |
| substantia nigra | UBERON:0002038 | 91.04 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.99 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.95 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.92 | gold quality |
| midbrain | UBERON:0001891 | 90.78 | gold quality |
| cranial nerve II | UBERON:0000941 | 90.51 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 89.60 | gold quality |
| cortical plate | UBERON:0005343 | 89.42 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 88.66 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 87.60 | gold quality |
| cerebellar vermis | UBERON:0004720 | 87.55 | gold quality |
| Ammon’s horn | UBERON:0001954 | 87.46 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 87.04 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.54 | gold quality |
| putamen | UBERON:0001874 | 85.31 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 4718.08 |
| E-HCAD-35 | yes | 4552.97 |
| E-HCAD-30 | yes | 4422.75 |
| E-HCAD-25 | yes | 4337.51 |
| E-GEOD-76312 | yes | 2198.59 |
| E-GEOD-75140 | yes | 769.87 |
| E-MTAB-6911 | yes | 254.48 |
| E-GEOD-81547 | yes | 24.52 |
| E-CURD-114 | yes | 11.55 |
| E-GEOD-84465 | yes | 10.04 |
| E-ANND-3 | yes | 8.29 |
| E-GEOD-93593 | yes | 7.09 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| IL6 | |
| TNF |
Upstream regulators (CollecTRI, top): FOXA2, NEUROD1, PDX1
Literature-anchored findings (GeneRIF, showing 16)
- ectopic ST18 expression in MCF-7 breast cancer cells strongly inhibits colony formation in soft agar and the formation of tumors in a xenograft mouse model (PMID:15489893)
- Fibroblasts that overexpress ST18 by transient transfection exhibit significantly increased apoptosis and increased expression of TNF-alpha, interleukin (IL) -1alpha, and IL-6. (PMID:18676404)
- a significant association between ST18 and predisposition to Pemphigus vulgaris (PV). (PMID:22437316)
- Presence of at least one A allele (AG or AA genotype) for rs1015213 was associated with a shallower anterior chamber depth (-0.07 mm, 95% CI -0.01 to -0.14 mm, p=0.028) after adjusting for age and sex (both p</=0.001). (PMID:23505305)
- In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with primary angle closure. (PMID:23847314)
- ST18 expression and activity are increased in cytotoxic conditions in pancreatic beta-cells. Overexpression of ST18 causes apoptosis. (PMID:24509857)
- a Chinese population shows no remarkable association with the SNP rs2304365 in the region of ST18 and pemphigus, which suggests the relationship of ST18 and pemphigus may act in a population-specific manner (PMID:24612320)
- the present findings indicate that ST18 may play a direct role in Pemphigus vulgaris (PV) and consequently represents a potential target for the treatment of this disease. (PMID:27148741)
- In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration. (PMID:29310965)
- allele A in rs2304365 of ST18 may have a role in pemphigus in Iranian patients (PMID:30192416)
- The suppression of tumorigenicity 18 protein ST18 (ST18) -497-65050T>C polymorphisms (rs17315309) exhibit a very strong association in the pathogenesis of Pemphigus Vulgaris (PV) and could represent a new potential molecular target for the treatment of disease. (PMID:30926339)
- ST18 Enhances PV-IgG-Induced Loss of Keratinocyte Cohesion in Parallel to Increased ERK Activation. (PMID:31057535)
- ST18 affects cell-cell adhesion in pemphigus vulgaris in a tumour necrosis factor-alpha-dependent fashion. (PMID:33205400)
- Genome-wide association study identifies susceptibility loci of brain atrophy to NFIA and ST18 in Alzheimer’s disease. (PMID:33640202)
- Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia. (PMID:34600138)
- Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression. (PMID:35396567)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | St18 | ENSMUSG00000033740 |
| rattus_norvegicus | St18 | ENSRNOG00000006200 |
| drosophila_melanogaster | Pits | FBGN0030400 |
| caenorhabditis_elegans | ztf-11 | WBGENE00009939 |
| caenorhabditis_elegans | WBGENE00010867 |
Paralogs (5): IRF2BPL (ENSG00000119669), IRF2BP2 (ENSG00000168264), IRF2BP1 (ENSG00000170604), MYT1L (ENSG00000186487), MYT1 (ENSG00000196132)
Protein
Protein identifiers
Suppression of tumorigenicity 18 protein — O60284 (reviewed: O60284)
Alternative names: Zinc finger protein 387
All UniProt accessions (6): O60284, E5RFE8, E5RHS3, E5RHY1, E5RID0, E5RK88
UniProt curated annotations — full annotation on UniProt →
Function. Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5’-AAAGTTT-3’ separated by 2-9 nucleotides. Represses basal transcription activity from target promoters. Inhibits colony formation in cultured breast cancer cells.
Subcellular location. Nucleus.
Tissue specificity. Detected at low levels in heart, liver, kidney, skeletal muscle, pancreas, testis, ovary and prostate. Detected at even lower levels in mammary epithelial cells and breast cancer cells.
Similarity. Belongs to the MYT1 family.
RefSeq proteins (54): NP_001339755, NP_001339756, NP_001339757, NP_001339758, NP_001339759, NP_001339760, NP_001339761, NP_001339762, NP_001339763, NP_001339764, NP_001339765, NP_001339766, NP_001339767, NP_001339768, NP_001339769, NP_001339770, NP_001339771, NP_001339772, NP_001339773, NP_001339774, NP_001339775, NP_001339776, NP_001339777, NP_001339778, NP_001339779, NP_001339780, NP_001339781, NP_001339782, NP_001339783, NP_001339784, NP_001339785, NP_001339786, NP_001339787, NP_001339788, NP_001339789, NP_001339790, NP_001339791, NP_001339792, NP_001339793, NP_001339794, NP_001339795, NP_001339796, NP_001339797, NP_001339798, NP_001339799, NP_001339800, NP_001339801, NP_001339802, NP_001339803, NP_001339804, NP_001339805, NP_001339806, NP_001339807, NP_055497 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002515 | Znf_C2H2C | Repeat |
| IPR013681 | Myelin_TF | Domain |
| IPR036060 | Znf_C2H2C_sf | Homologous_superfamily |
Pfam: PF01530, PF08474
UniProt features (48 total): binding site 24, zinc finger region 6, region of interest 5, compositionally biased region 4, strand 3, helix 2, chain 1, coiled-coil region 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CS8 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60284-F1 | 53.98 | 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.
Ligand- & substrate-binding residues (24): 368; 373; 386; 392; 412; 417; 430; 436; 724; 729; 742; 748 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 177 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, AP1_01, AAGCAAT_MIR137, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_RESPONSE_TO_PEPTIDE, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, ATGCAGT_MIR217, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, CEBPB_01, MODULE_66, BLALOCK_ALZHEIMERS_DISEASE_UP, CAATGCA_MIR33, WTGAAAT_UNKNOWN, GOBP_RESPONSE_TO_INTERLEUKIN_1, AAAGACA_MIR511
GO Biological Process (7): negative regulation of cell population proliferation (GO:0008285), regulation of gene expression (GO:0010468), tumor necrosis factor-mediated signaling pathway (GO:0033209), positive regulation of transcription by RNA polymerase II (GO:0045944), interleukin-6-mediated signaling pathway (GO:0070102), interleukin-1-mediated signaling pathway (GO:0070498), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): 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), metal ion binding (GO:0046872)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), protein-DNA complex (GO:0032993)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytokine-mediated signaling pathway | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| cellular response to tumor necrosis factor | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cellular response to interleukin-6 | 1 |
| cellular response to interleukin-1 | 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 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
400 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ST18 | PCMTD1 | Q96MG8 | 573 |
| ST18 | C10orf53 | Q8N6V4 | 518 |
| ST18 | PLEKHA7 | Q6IQ23 | 446 |
| ST18 | PHF20 | Q9BVI0 | 398 |
| ST18 | DPM2 | O94777 | 340 |
| ST18 | EPDR1 | Q9UM22 | 328 |
| ST18 | SIN3B | O75182 | 319 |
| ST18 | ZRANB1 | Q9UGI0 | 315 |
| ST18 | EEIG1 | Q5T9C2 | 301 |
| ST18 | MFRP | Q9BY79 | 294 |
| ST18 | A0A087WUC5 | A0A087WUC5 | 275 |
| ST18 | PTGR2 | Q8N8N7 | 274 |
| ST18 | COL11A1 | P12107 | 273 |
| ST18 | NF1 | P21359 | 267 |
| ST18 | NPDC1 | Q9NQX5 | 258 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ST18 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRPV2 | ST18 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PCNT | ST18 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HSPA13 | ST18 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (12): HIST1H2BH (Proximity Label-MS), ST18 (Affinity Capture-MS), ST18 (Two-hybrid), ST18 (Two-hybrid), ST18 (Affinity Capture-MS), ST18 (Cross-Linking-MS (XL-MS)), ST18 (Cross-Linking-MS (XL-MS)), ZC3H18 (Cross-Linking-MS (XL-MS)), ST18 (Co-fractionation), ST18 (Co-fractionation), ST18 (Co-fractionation), ST18 (Co-fractionation)
ESM2 similar proteins: A0A140LFM6, A0A1B0GUA6, A0JMD2, A4IGV6, A6H5Y1, A6NFA0, A6NKB5, A8E653, B3DHS1, D3ZJ47, D3ZMK9, E9Q309, O14513, O60284, P0CAX8, Q1RMQ5, Q32LN6, Q3URK1, Q3UTJ2, Q3ZBS1, Q49A88, Q5DU28, Q5RDK8, Q5REU9, Q5SW75, Q5VT06, Q60664, Q62417, Q642A3, Q68D20, Q6A065, Q6DFB0, Q6NRK3, Q6NWJ0, Q6ZVD7, Q76I79, Q7TSH4, Q8K2J4, Q8K3V7, Q8VEB3
Diamond homologs: A2A5N8, B1B1A0, D3YUG0, D3YXK1, D3ZWK4, E1C2V1, O02274, O60284, O95251, P39769, P59178, P70047, P70475, P78364, P97500, Q01538, Q05BQ5, Q1JQD9, Q1RNF8, Q29L50, Q32N90, Q3MIF2, Q4V7W5, Q5DTW2, Q5R737, Q5SVQ0, Q5VUG0, Q5VXD3, Q64028, Q6DIN3, Q6P5G3, Q6SPE9, Q6SPF0, Q7Z3H4, Q80TY4, Q810T5, Q8BLB7, Q8C8Y5, Q8CFC2, Q8CHP6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
158 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 138 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6395 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:52118324:CTT:C | donor_gain | 1.0000 |
| 8:52118326:T:TA | donor_gain | 1.0000 |
| 8:52118440:TCCT:T | acceptor_loss | 1.0000 |
| 8:52118442:C:CC | acceptor_gain | 1.0000 |
| 8:52118443:T:C | acceptor_loss | 1.0000 |
| 8:52133053:TTACT:T | donor_loss | 1.0000 |
| 8:52133055:A:AC | donor_gain | 1.0000 |
| 8:52133055:A:AT | donor_loss | 1.0000 |
| 8:52133055:ACTT:A | donor_gain | 1.0000 |
| 8:52133056:C:CC | donor_gain | 1.0000 |
| 8:52133056:CT:C | donor_gain | 1.0000 |
| 8:52133056:CTT:C | donor_gain | 1.0000 |
| 8:52133056:CTTC:C | donor_gain | 1.0000 |
| 8:52133134:CAAG:C | acceptor_gain | 1.0000 |
| 8:52133135:AAG:A | acceptor_gain | 1.0000 |
| 8:52133136:AG:A | acceptor_gain | 1.0000 |
| 8:52133137:GC:G | acceptor_loss | 1.0000 |
| 8:52133138:C:CC | acceptor_gain | 1.0000 |
| 8:52133138:CTGAA:C | acceptor_loss | 1.0000 |
| 8:52133139:T:G | acceptor_loss | 1.0000 |
| 8:52133143:A:AC | acceptor_gain | 1.0000 |
| 8:52133151:C:CT | acceptor_gain | 1.0000 |
| 8:52133152:C:CT | acceptor_gain | 1.0000 |
| 8:52133152:C:T | acceptor_gain | 1.0000 |
| 8:52133153:G:T | acceptor_gain | 1.0000 |
| 8:52142928:A:AC | donor_gain | 1.0000 |
| 8:52142929:C:CC | donor_gain | 1.0000 |
| 8:52159105:CTTTG:C | acceptor_gain | 1.0000 |
| 8:52159110:C:CC | acceptor_gain | 1.0000 |
| 8:52161373:A:AC | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000004585 (8:52359480 A>T), RS1000024418 (8:52237936 C>G), RS1000053180 (8:52147263 A>G), RS1000067850 (8:52304758 C>T), RS1000069019 (8:52186158 A>C), RS1000070649 (8:52311036 G>A), RS1000087245 (8:52262898 A>G), RS1000094096 (8:52222291 T>C), RS1000094807 (8:52380362 G>A), RS1000109306 (8:52160988 T>C), RS1000138255 (8:52229792 T>A), RS1000157883 (8:52302269 G>A), RS1000159826 (8:52356148 G>A), RS1000170873 (8:52250356 T>G), RS1000183285 (8:52127770 T>A)
Disease associations
OMIM: gene MIM:617155 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001915_23 | Alzheimer’s disease (cognitive decline) | 5.000000e-07 |
| GCST002759_18 | Motion sickness | 7.000000e-11 |
| GCST003467_14 | Glaucoma (primary angle closure) | 5.000000e-16 |
| GCST003467_15 | Glaucoma (primary angle closure) | 2.000000e-13 |
| GCST003472_22 | Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder | 3.000000e-06 |
| GCST003472_23 | Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder | 3.000000e-06 |
| GCST003472_24 | Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder | 3.000000e-06 |
| GCST006147_3 | Frontotemporal dementia (age at onset) | 8.000000e-07 |
| GCST006149_3 | Frontotemporal dementia with GRN mutation (age at onset) | 9.000000e-06 |
| GCST006291_33 | Spherical equivalent or myopia (age of diagnosis) | 6.000000e-13 |
| GCST007325_134 | General risk tolerance (MTAG) | 9.000000e-11 |
| GCST007565_150 | Morning person | 8.000000e-19 |
| GCST007576_19 | Chronotype | 8.000000e-19 |
| GCST008114_30 | Type 2 diabetes | 5.000000e-06 |
| GCST008896_2 | Psychotic experience (distressing) | 5.000000e-08 |
| GCST010002_299 | Refractive error | 7.000000e-25 |
| GCST90000047_156 | Age at first sexual intercourse | 5.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006928 | motion sickness |
| EFO:0007679 | oppositional defiant disorder measurement |
| EFO:0004847 | age at onset |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0005940 | psychotic symptoms |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects methylation, decreases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects methylation | 1 |
| kojic acid | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| cadmium sulfate | decreases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Cytarabine | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A6T6 | SEES3-1V human ST18, clone1 | Embryonic stem cell | Male |
| CVCL_A6T7 | SEES3-1V human ST18, clone2 | Embryonic stem cell | Male |
| CVCL_A6T8 | SEES3-1V human ST18, clone3 | Embryonic stem cell | Male |
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): frontotemporal dementia, primary angle-closure glaucoma, refractive error