MEX3C
gene geneOn this page
Also known as FLJ38871RNF194
Summary
MEX3C (mex-3 RNA binding family member C, HGNC:28040) is a protein-coding gene on chromosome 18q21.2, encoding RNA-binding E3 ubiquitin-protein ligase MEX3C (Q5U5Q3). E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes.
This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension.
Source: NCBI Gene 51320 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 7 total
- MANE Select transcript:
NM_016626
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28040 |
| Approved symbol | MEX3C |
| Name | mex-3 RNA binding family member C |
| Location | 18q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ38871, RNF194 |
| Ensembl gene | ENSG00000176624 |
| Ensembl biotype | protein_coding |
| OMIM | 611005 |
| Entrez | 51320 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000406189, ENST00000591040, ENST00000592416
RefSeq mRNA: 1 — MANE Select: NM_016626
NM_016626
CCDS: CCDS11951
Canonical transcript exons
ENST00000406189 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001702326 | 51196567 | 51197681 |
| ENSE00001918848 | 51174550 | 51177576 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 98.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8419 / max 192.1622, expressed in 1799 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 171973 | 8.0391 | 1723 |
| 171972 | 4.3545 | 1422 |
| 171969 | 2.1061 | 1148 |
| 171974 | 1.7413 | 890 |
| 171971 | 0.7398 | 428 |
| 171970 | 0.7185 | 402 |
| 171977 | 0.1162 | 3 |
| 171976 | 0.0199 | 3 |
| 208559 | 0.0041 | 3 |
| 208558 | 0.0024 | 2 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.90 | gold quality |
| secondary oocyte | CL:0000655 | 98.24 | gold quality |
| left testis | UBERON:0004533 | 97.27 | gold quality |
| right testis | UBERON:0004534 | 97.20 | gold quality |
| testis | UBERON:0000473 | 95.57 | gold quality |
| male germ cell | CL:0000015 | 94.63 | gold quality |
| ventricular zone | UBERON:0003053 | 94.30 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.96 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.94 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.30 | gold quality |
| embryo | UBERON:0000922 | 92.73 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.68 | gold quality |
| oocyte | CL:0000023 | 92.65 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 92.01 | gold quality |
| parietal pleura | UBERON:0002400 | 91.84 | gold quality |
| cortical plate | UBERON:0005343 | 91.45 | gold quality |
| tibia | UBERON:0000979 | 91.28 | gold quality |
| pleura | UBERON:0000977 | 91.18 | gold quality |
| mammary duct | UBERON:0001765 | 91.08 | gold quality |
| visceral pleura | UBERON:0002401 | 90.92 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 90.89 | gold quality |
| adult organism | UBERON:0007023 | 90.88 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.77 | gold quality |
| superficial temporal artery | UBERON:0001614 | 90.76 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.57 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.43 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.38 | gold quality |
| caput epididymis | UBERON:0004358 | 90.34 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.33 | gold quality |
| bone marrow cell | CL:0002092 | 90.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.93 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
259 targeting MEX3C, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
Literature-anchored findings (GeneRIF, showing 9)
- In combination sibling-pair linkage analysis and case-control association studies of chromosome 18, RKHD2 is found to contribute to the genetic susceptibility of essential hypertension. (PMID:17015768)
- The RNA-binding E3 ubiquitin ligase MEX-3C links ubiquitination with MHC-I mRNA degradation (PMID:22863774)
- associates with cytoplasmic deadenylation complexes and ubiquitinates CNOT7 (PMID:26471122)
- Data suggest that KH1 and HK2 domains of MEX3C bind with high affinity to MRE10, a 10-mer RNA (5prime-CAGAGUUUAG-3prime) containing an eight-nucleotide MEX3C recognition element motif (AGAGUUUA); 3prime-untranslated region of HLA-A2 mRNA contains such a high affinity binding site for KH domains of MEX3C. (MEX3C = mex-3 RNA binding family member C; HLA-A2 = HLA class I histocompatibility antigen, A-2 alpha chain) (PMID:28808060)
- MEX3C promotes osteosarcoma malignant progression through negatively regulating FGF14. (PMID:32862604)
- Circ_0007841 accelerates ovarian cancer development through facilitating MEX3C expression by restraining miR-151-3p activity. (PMID:33896797)
- MEX3C-Mediated Decay of SOCS3 mRNA Promotes JAK2/STAT3 Signaling to Facilitate Metastasis in Hepatocellular Carcinoma. (PMID:36112698)
- MEX3C as a potential target for hepatocellular carcinoma drug and immunity: combined therapy with Lenvatinib. (PMID:37828435)
- Ubiquitylation of RUNX3 by RNA-binding ubiquitin ligase MEX3C promotes tumorigenesis in lung adenocarcinoma. (PMID:38424632)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mex3c | ENSMUSG00000037253 |
| rattus_norvegicus | Mex3c | ENSRNOG00000015777 |
| drosophila_melanogaster | CG11360 | FBGN0039920 |
| caenorhabditis_elegans | mex-3 | WBGENE00003229 |
Paralogs (3): MEX3D (ENSG00000181588), MEX3B (ENSG00000183496), MEX3A (ENSG00000254726)
Protein
Protein identifiers
RNA-binding E3 ubiquitin-protein ligase MEX3C — Q5U5Q3 (reviewed: Q5U5Q3)
Alternative names: RING finger and KH domain-containing protein 2, RING finger protein 194, RING-type E3 ubiquitin transferase MEX3C
All UniProt accessions (3): Q5U5Q3, A0A6Q8PG18, K7ER23
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3’ UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation.
Subunit / interactions. Interacts with USP7, which antagonizes the ability to degrade mRNA.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Highest levels found in fetal brain and testis. Also expressed in thymus, salivary gland and uterus. Highly expressed in cells of the innate immune system, in particular activated NK cells. Week expression in the intestine.
Disease relevance. Genetic variations in MEX3C may be associated with susceptibility to essential hypertension.
Domain organisation. Binds RNA through its KH domains.
RefSeq proteins (1): NP_057710* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR004087 | KH_dom | Domain |
| IPR004088 | KH_dom_type_1 | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR036612 | KH_dom_type_1_sf | Homologous_superfamily |
| IPR047226 | KH-I_MEX3_rpt2 | Domain |
| IPR047227 | MEX3 | Family |
| IPR047228 | KH-I_MEX3_rpt1 | Domain |
Pfam: PF00013, PF13920
Enzyme classification (BRENDA):
- EC 2.3.2.27 — RING-type E3 ubiquitin transferase (BRENDA: 28 organisms, 138 substrates, 10 inhibitors, 1 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| [UBE2W]-S-UBIQUITINYL-L-CYSTEINE | 0.3014 | 1 |
UniProt features (44 total): helix 11, strand 11, compositionally biased region 7, modified residue 3, domain 2, sequence conflict 2, turn 2, region of interest 2, chain 1, sequence variant 1, mutagenesis site 1, zinc finger region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WWW | X-RAY DIFFRACTION | 1.8 |
| 5WWX | X-RAY DIFFRACTION | 2 |
| 5ZI6 | X-RAY DIFFRACTION | 2.2 |
| 5WWZ | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5U5Q3-F1 | 60.36 | 0.28 |
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 (3): 88, 537, 545
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 343 | prevents rna binding. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 240 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_CARTILAGE_DEVELOPMENT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GCM_ZNF198, GOBP_GROWTH, TATTATA_MIR374, GOBP_CHONDROCYTE_DEVELOPMENT, CATTTCA_MIR203, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, AAACCAC_MIR140
GO Biological Process (3): chondrocyte hypertrophy (GO:0003415), regulation of fat cell differentiation (GO:0045598), energy homeostasis (GO:0097009)
GO Molecular Function (7): RNA binding (GO:0003723), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), nucleic acid binding (GO:0003676), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| chondrocyte development | 1 |
| developmental cell growth | 1 |
| fat cell differentiation | 1 |
| regulation of cell differentiation | 1 |
| multicellular organismal-level homeostasis | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1148 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MEX3C | TRIM4 | Q9C037 | 754 |
| MEX3C | DCP1A | Q9NPI6 | 734 |
| MEX3C | RNF135 | Q8IUD6 | 699 |
| MEX3C | TRIM25 | Q14258 | 692 |
| MEX3C | HNRNPK | P61978 | 645 |
| MEX3C | AGO1 | Q9UL18 | 601 |
| MEX3C | RNF122 | Q9H9V4 | 596 |
| MEX3C | AGO2 | Q9UKV8 | 560 |
| MEX3C | PTGIS | Q16647 | 549 |
| MEX3C | CYP4A11 | Q02928 | 548 |
| MEX3C | RNF125 | Q96EQ8 | 546 |
| MEX3C | ZNF516 | Q92618 | 539 |
| MEX3C | UBE2S | Q16763 | 521 |
| MEX3C | GNB3 | P16520 | 509 |
| MEX3C | DHX36 | Q9H2U1 | 503 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| MEX3C | YWHAE | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIP4K2A | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| MEX3C | USP7 | psi-mi:“MI:0915”(physical association) | 0.520 |
| USP7 | MEX3C | psi-mi:“MI:0915”(physical association) | 0.520 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| SFN | MEX3C | psi-mi:“MI:0915”(physical association) | 0.400 |
| MEX3C | RUNX3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| NUDCD1 | TUBAL3 | psi-mi:“MI:0914”(association) | 0.350 |
| LMO2 | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAH | FOXO6 | psi-mi:“MI:0914”(association) | 0.350 |
| PIP | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| LMO2 | POLR2D | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC11 | CCDC22 | psi-mi:“MI:0914”(association) | 0.350 |
| MEX3C | psi-mi:“MI:0914”(association) | 0.350 | |
| MEX3C | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (113): MEX3C (Affinity Capture-MS), ADAR (Affinity Capture-MS), AIFM1 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), AP2B1 (Affinity Capture-MS), ATAD3A (Affinity Capture-MS), ATXN2L (Affinity Capture-MS), BMS1 (Affinity Capture-MS), MTHFD1 (Affinity Capture-MS), CAD (Affinity Capture-MS), CCAR2 (Affinity Capture-MS), CNOT1 (Affinity Capture-MS), CNOT3 (Affinity Capture-MS), DHX37 (Affinity Capture-MS)
ESM2 similar proteins: A1L020, A1L3F4, A7X8B3, A7X8B5, A7X8B7, A7X8B9, A7X8C2, A7X8C4, A7X8C7, A7X8C9, A7X8D2, A7X8D4, A7XW25, O97775, O97776, O97952, O97960, P06401, P10275, P84550, P84551, P89463, Q01JD1, Q05A36, Q0VDT2, Q3UE17, Q5PQQ7, Q5U5Q3, Q69Z36, Q6QT55, Q6ZK57, Q6ZN04, Q71FD5, Q7RTV3, Q7TSJ6, Q7XQN1, Q7XT42, Q84SL2, Q86XN8, Q8BQ89
Diamond homologs: A1E2V0, A1L020, A1L3F4, A9JTP3, A9ULZ2, O08863, O62640, Q05A36, Q0MW30, Q13489, Q13490, Q3UE17, Q5U5Q3, Q62210, Q69Z36, Q6TEM9, Q6ZN04, Q7XI08, Q86XN8, Q8JHV9, Q90660, Q9SYH3, A8MQ27, P41436, A2AWP0, A5D8Q0, D3ZDI6, E3SCZ8, F4IDI6, O10324, O15392, O70201, O81851, O88738, P40629, P41454, P98170, Q05AK5, Q0WPJ7, Q13075
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | MEX3C | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 23 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 |
|---|---|---|---|
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 5 | 40.6× | 5e-06 |
| RHO GTPase Effectors | 5 | 17.9× | 1e-04 |
| Transcriptional Regulation by TP53 | 5 | 16.3× | 2e-04 |
| Membrane Trafficking | 6 | 11.7× | 1e-04 |
| Cell Cycle | 6 | 11.4× | 2e-04 |
| Vesicle-mediated transport | 6 | 11.0× | 2e-04 |
| Viral Infection Pathways | 6 | 9.7× | 3e-04 |
| Signaling by Rho GTPases | 5 | 9.0× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
7 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
4236 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:51176392:A:G | C647R | 1.000 |
| 18:51176399:A:C | C644W | 1.000 |
| 18:51176400:C:G | C644S | 1.000 |
| 18:51176400:C:T | C644Y | 1.000 |
| 18:51176401:A:G | C644R | 1.000 |
| 18:51176401:A:T | C644S | 1.000 |
| 18:51176433:G:T | A633D | 1.000 |
| 18:51176436:C:G | C632S | 1.000 |
| 18:51176437:A:G | C632R | 1.000 |
| 18:51176437:A:T | C632S | 1.000 |
| 18:51176444:G:C | C629W | 1.000 |
| 18:51176445:C:T | C629Y | 1.000 |
| 18:51176446:A:G | C629R | 1.000 |
| 18:51176448:A:G | F628S | 1.000 |
| 18:51176464:A:G | C623R | 1.000 |
| 18:51176472:A:G | L620P | 1.000 |
| 18:51176498:G:C | C611W | 1.000 |
| 18:51176499:C:G | C611S | 1.000 |
| 18:51176499:C:T | C611Y | 1.000 |
| 18:51176500:A:G | C611R | 1.000 |
| 18:51176500:A:T | C611S | 1.000 |
| 18:51176507:A:C | C608W | 1.000 |
| 18:51176508:C:G | C608S | 1.000 |
| 18:51176508:C:T | C608Y | 1.000 |
| 18:51176509:A:G | C608R | 1.000 |
| 18:51176509:A:T | C608S | 1.000 |
| 18:51177159:A:T | I391N | 1.000 |
| 18:51177162:T:G | H390P | 1.000 |
| 18:51177163:G:C | H390D | 1.000 |
| 18:51177171:A:C | I387R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000095906 (18:51198958 T>A,C), RS1000192189 (18:51198977 C>G,T), RS1000635662 (18:51192520 C>T), RS1000666929 (18:51192366 C>A,T), RS1000841503 (18:51181322 G>A), RS1000905267 (18:51181522 G>C,T), RS1000950268 (18:51174576 TTAAG>T,TTAAGTAAG), RS1001027065 (18:51187027 G>A), RS1001083149 (18:51175019 CTTTT>C,CTTT,CTTTTT), RS1001141795 (18:51179120 C>T), RS1001149081 (18:51187466 G>GT), RS1001251960 (18:51187935 ATCAAT>A), RS1001432328 (18:51194521 A>G), RS1001477922 (18:51187393 G>A), RS1001487918 (18:51186231 C>G)
Disease associations
OMIM: gene MIM:611005 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001532_7 | Immune response to smallpox vaccine (IL-6) | 9.000000e-09 |
| GCST001547_5 | Immune response to anthrax vaccine | 1.000000e-06 |
| GCST006061_192 | Atrial fibrillation | 5.000000e-06 |
| GCST006414_39 | Atrial fibrillation | 5.000000e-08 |
| GCST006414_96 | Atrial fibrillation | 2.000000e-08 |
| GCST006624_130 | Systolic blood pressure | 2.000000e-16 |
| GCST007267_38 | Systolic blood pressure | 3.000000e-16 |
| GCST007797_43 | Asthma onset (childhood vs adult) | 5.000000e-06 |
| GCST007798_121 | Asthma | 6.000000e-08 |
| GCST007800_99 | Asthma (childhood onset) | 4.000000e-13 |
| GCST009325_63 | Parkinson’s disease or first degree relation to individual with Parkinson’s disease | 1.000000e-08 |
| GCST009391_1640 | Metabolite levels | 5.000000e-06 |
| GCST010241_330 | Apolipoprotein A1 levels | 3.000000e-08 |
| GCST012053_3 | Weight | 8.000000e-07 |
| GCST012490_210 | Femur bone mineral density x serum urate levels interaction | 2.000000e-09 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004645 | response to vaccine |
| EFO:0004873 | cytokine measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0004847 | age at onset |
| EFO:0007787 | plasma betaine measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004338 | body weight |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs17751934 | Toxicity | 3 | Bisphosphonates | Osteonecrosis |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs17751934 | MEX3C | 3 | 0.00 | 1 | Bisphosphonates |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, increases expression | 3 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| potassium chromate(VI) | increases expression, affects cotreatment | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Allergens | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | affects expression | 1 |
| Vehicle Emissions | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Phenobarbital | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SY17 | HAP1 MEX3C (-) | Cancer cell line | Male |
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.