MIEN1
gene geneOn this page
Also known as MGC14832ORB3XTP4C35Rdx12
Summary
MIEN1 (migration and invasion enhancer 1, HGNC:28230) is a protein-coding gene on chromosome 17q12, encoding Migration and invasion enhancer 1 (Q9BRT3). Increases cell migration by inducing filopodia formation at the leading edge of migrating cells.
Involved in negative regulation of apoptotic process; positive regulation of cell migration; and positive regulation of filopodium assembly. Located in cytoplasmic side of plasma membrane and cytosol.
Source: NCBI Gene 84299 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 10 total
- MANE Select transcript:
NM_032339
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28230 |
| Approved symbol | MIEN1 |
| Name | migration and invasion enhancer 1 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC14832, ORB3, XTP4, C35, Rdx12 |
| Ensembl gene | ENSG00000141741 |
| Ensembl biotype | protein_coding |
| OMIM | 611802 |
| Entrez | 84299 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000394231, ENST00000469568, ENST00000474210, ENST00000498164, ENST00000577810, ENST00000582963, ENST00000935317, ENST00000935318
RefSeq mRNA: 2 — MANE Select: NM_032339
NM_001330206, NM_032339
CCDS: CCDS11344, CCDS82115
Canonical transcript exons
ENST00000394231 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000950667 | 39730194 | 39730291 |
| ENSE00001848841 | 39730407 | 39730532 |
| ENSE00003480361 | 39728510 | 39729605 |
| ENSE00003685036 | 39729685 | 39729761 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 97.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.2147 / max 275.7347, expressed in 1823 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165623 | 29.4283 | 1820 |
| 165622 | 4.6557 | 1726 |
| 165621 | 1.1307 | 531 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 97.66 | gold quality |
| putamen | UBERON:0001874 | 97.44 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.40 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.17 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.62 | gold quality |
| apex of heart | UBERON:0002098 | 96.55 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.53 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.45 | gold quality |
| amygdala | UBERON:0001876 | 95.94 | gold quality |
| granulocyte | CL:0000094 | 95.93 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.93 | gold quality |
| spinal cord | UBERON:0002240 | 95.89 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.86 | gold quality |
| body of stomach | UBERON:0001161 | 95.70 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.70 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.64 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.61 | gold quality |
| substantia nigra | UBERON:0002038 | 95.56 | gold quality |
| hypothalamus | UBERON:0001898 | 95.50 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.38 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.35 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.27 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.20 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.09 | gold quality |
| transverse colon | UBERON:0001157 | 95.05 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.02 | gold quality |
| midbrain | UBERON:0001891 | 94.99 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 94.98 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.96 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.95 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75688 | yes | 1769.16 |
| E-CURD-10 | no | 226.81 |
| E-CURD-112 | no | 2.48 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting MIEN1, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-502-5P | 98.77 | 66.51 | 906 |
| HSA-MIR-6769B-5P | 98.73 | 64.91 | 1092 |
Literature-anchored findings (GeneRIF, showing 19)
- MGC14832 gene is located within human chromosome 17q12 amplicon, including PPP1R1B, STARD3, TCAP, PNMT, ERBB2, MGC14832 and GRB7 genes. PPP1R1B ~ ERBB2 ~ GRB7 locus is amplified in human gastric cancer and breast cancer. (PMID:12739007)
- Oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML-GSDM locus. (PMID:15010812)
- Data strongly suggest C17orf37 overexpression in prostate cancer functionally enhances migration and invasion of tumor cells, and is an important target for cancer therapy. (PMID:19503095)
- Inhibition of C35 gene expression by small interfering RNA induces apoptosis of breast cancer cells. (PMID:21068479)
- prenylation is required for the function of the C17orf37 protein in cancer cells (PMID:21628459)
- Results suggest that MIEN1 may have an important regulatory role in phosphorylation of AKT with its redox potential. (PMID:23284973)
- results suggest that DeltaNp73 might cooperate with C35 to promote tumour progression and contribute to cisplatin resistance in ovarian cancer cells. (PMID:23880825)
- While MIEN1 is a direct target of miR-940, miR-940 alters MIEN1 RNA. (PMID:25406943)
- MIEN1 expression not only positively correlates with oral cancer progression but also seems to be a critical molecular determinant in migration and invasion of oral cancer cells. (PMID:25996585)
- C35 might serve as a biomarker or therapeutic target for management of colorectal cancer. (PMID:26173296)
- MIEN1, a novel interactor of Annexin A2, promotes tumor cell migration by enhancing AnxA2 cell surface expression. (PMID:26272794)
- In conclusion, this study revealed that miR-26b suppresses NSCLC metastasis by targeting MIEN1 via NF-kappaB/MMP-9/VEGF pathways, implicating a potential prognostic biomarker and therapeutic target for NSCLC treatment. (PMID:26827826)
- Data show that migration and invasion enhancer 1 (MIEN1) plays an essential role in maintaining the plasticity of the dynamic membrane-associated actin cytoskeleton, which leads to an increase in cell motility, suggesting targeting MIEN1 might represent a promising means to prevent breast tumor metastasis. (PMID:27462783)
- these results suggest the MIEN1 promoter has a short interspersed nuclear Alu element region that is hypermethylated in normal cells leading to repression of the gene; in cancer, the hypomethylation of a part of this repeat, in addition to the binding of USF, results in MIEN1 expression (PMID:27589566)
- indicate that MIEN1 overexpression may facilitate migration and invasion in breast cancer (PMID:28198505)
- Down-regulation of C35 decreased the cell viability and migration of breast ductal carcinoma cells. (PMID:28859163)
- data identified that the promotion of gastric cancer (GC) growth and metastasis induced by circRNA_100876 interacted with miR-136 and MIEN1, indicating an emerging announcement for uncovering the potential mechanism of GC progression (PMID:32305633)
- MiR-124-5p Inhibits the Progression of Gastric Cancer by Targeting MIEN1. (PMID:33349155)
- Short peptides based on the conserved regions of MIEN1 protein exhibit anticancer activity by targeting the MIEN1 signaling pathway. (PMID:38272230)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | selenow2a | ENSDARG00000038228 |
| danio_rerio | selenow2b | ENSDARG00000089936 |
| mus_musculus | Mien1 | ENSMUSG00000002580 |
| rattus_norvegicus | Mien1 | ENSRNOG00000007227 |
| drosophila_melanogaster | CG15456 | FBGN0040650 |
Paralogs (2): SELENOW (ENSG00000178980), SELENOV (ENSG00000186838)
Protein
Protein identifiers
Migration and invasion enhancer 1 — Q9BRT3 (reviewed: Q9BRT3)
Alternative names: HBV X-transactivated gene 4 protein, HBV XAg-transactivated protein 4, Protein C35
All UniProt accessions (2): J3KTI2, Q9BRT3
UniProt curated annotations — full annotation on UniProt →
Function. Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process.
Subunit / interactions. Interacts with GPX1.
Subcellular location. Cytoplasm. Cytosol. Cell membrane.
Tissue specificity. Among normal tissues, present only in Leydig cells. Strongly up-regulated in breast cancers and in brain cancer distant metastasis (at protein level). Up-regulated in prostate cancer cells and in the higher grades of prostate adenocarcinoma (at protein level).
Post-translational modifications. Isoprenylation facilitates association with the plasma membrane and enhances the migratory phenotype of cells by inducing increased filopodia formation.
Similarity. Belongs to the SelWTH family.
RefSeq proteins (2): NP_001317135, NP_115715* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011893 | Selenoprotein_Rdx-typ | Family |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR051441 | SelW_related | Family |
Pfam: PF10262
UniProt features (22 total): strand 5, turn 4, helix 3, mutagenesis site 2, initiator methionine 1, chain 1, propeptide 1, region of interest 1, compositionally biased region 1, modified residue 1, lipid moiety-binding region 1, disulfide bond 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2LJK | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRT3-F1 | 75.79 | 0.07 |
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 (2): 2, 112
Disulfide bonds (1): 30–33
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 112–115 | no effect on subcellular location. low protein abundance, suggesting that stability is affected. |
| 112 | abolishes prenylation. predominantly cytosolic with little plasma membrane-associated expression. reduces cell migration |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 124 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_FILOPODIUM_ASSEMBLY, MODULE_480, WTGAAAT_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, SANSOM_APC_TARGETS_DN, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ASSEMBLY, GOBP_REGULATION_OF_FILOPODIUM_ASSEMBLY
GO Biological Process (4): apoptotic process (GO:0006915), positive regulation of cell migration (GO:0030335), negative regulation of apoptotic process (GO:0043066), positive regulation of filopodium assembly (GO:0051491)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): mitochondrion (GO:0005739), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| filopodium assembly | 1 |
| regulation of filopodium assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cytoplasmic side of membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
932 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MIEN1 | SELENOT | P62341 | 876 |
| MIEN1 | SELENOW | P63302 | 831 |
| MIEN1 | PGAP3 | Q96FM1 | 766 |
| MIEN1 | ERBB2 | P04626 | 764 |
| MIEN1 | GRB7 | Q14451 | 720 |
| MIEN1 | POLR3F | Q9H1D9 | 704 |
| MIEN1 | STARD3 | Q14849 | 675 |
| MIEN1 | PRDX1 | P35703 | 645 |
| MIEN1 | TCAP | O15273 | 578 |
| MIEN1 | GPX6 | P59796 | 561 |
| MIEN1 | GPX7 | Q96SL4 | 561 |
| MIEN1 | CD82 | P27701 | 557 |
| MIEN1 | GPX5 | O75715 | 554 |
| MIEN1 | GPX8 | Q8TED1 | 544 |
| MIEN1 | GPX2 | P18283 | 542 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HMGB2 | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.710 |
| HMGB2 | MIEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| MIEN1 | REL | psi-mi:“MI:0915”(physical association) | 0.560 |
| REL | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB32 | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIP6 | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POU6F2 | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| HDAC7 | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARID5A | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VENTX | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT4L | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIEN1 | GORASP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HLX | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIEN1 | PCBP4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MIEN1 | NLGN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HMGB1 | MIEN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SCCPDH | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| MIEN1 | ZBTB32 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MIEN1 | TRIP6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (25): MIEN1 (Two-hybrid), MIEN1 (Affinity Capture-RNA), MIEN1 (Affinity Capture-RNA), MIEN1 (Affinity Capture-MS), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), MIEN1 (Two-hybrid), DDIT4L (Two-hybrid)
ESM2 similar proteins: B9N1F9, O09171, O14929, O22718, O35490, O80526, P11029, P11497, P19803, P21343, P52565, P83468, Q0IIL1, Q0J035, Q13085, Q148C8, Q28007, Q28559, Q28943, Q2QNG7, Q2QZ86, Q32PA4, Q3ZBE1, Q4R4J0, Q4R4U1, Q4R518, Q5I597, Q5R5F8, Q5RCR8, Q5RFG2, Q5SRX1, Q5SWU9, Q5XI73, Q5ZID6, Q5ZMQ0, Q6P6Q9, Q6ZVM7, Q8L5Y9, Q8VCX5, Q923S8
Diamond homologs: D0EYG3, O19097, P59797, P63300, P63301, P63302, P63303, Q148C8, Q568W0, Q5NVB2, Q95KL4, Q9BRT3, Q9CQ86, Q9STZ2, Q19892, Q9BN19
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 7 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
265 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:39729757:GGCAC:G | acceptor_gain | 1.0000 |
| 17:39729758:GCAC:G | acceptor_gain | 1.0000 |
| 17:39729759:CAC:C | acceptor_gain | 1.0000 |
| 17:39729759:CACC:C | acceptor_gain | 1.0000 |
| 17:39729760:ACCTG:A | acceptor_loss | 1.0000 |
| 17:39729762:C:CC | acceptor_gain | 1.0000 |
| 17:39729765:G:C | acceptor_gain | 1.0000 |
| 17:39729765:G:GC | acceptor_gain | 1.0000 |
| 17:39730188:CCTCA:C | donor_loss | 1.0000 |
| 17:39730189:CTCAC:C | donor_loss | 1.0000 |
| 17:39730193:C:CA | donor_loss | 1.0000 |
| 17:39729684:CAT:C | donor_gain | 0.9900 |
| 17:39729760:AC:A | acceptor_gain | 0.9900 |
| 17:39729761:CCTGG:C | acceptor_gain | 0.9900 |
| 17:39730192:A:AC | donor_gain | 0.9900 |
| 17:39730193:C:CC | donor_gain | 0.9900 |
| 17:39730289:TCA:T | acceptor_gain | 0.9900 |
| 17:39730290:CA:C | acceptor_gain | 0.9900 |
| 17:39730290:CAC:C | acceptor_gain | 0.9900 |
| 17:39730292:C:CC | acceptor_gain | 0.9900 |
| 17:39730413:TC:T | donor_gain | 0.9900 |
| 17:39730414:CC:C | donor_gain | 0.9900 |
| 17:39729606:C:CC | acceptor_gain | 0.9800 |
| 17:39729774:C:CT | acceptor_gain | 0.9800 |
| 17:39730287:GTTCA:G | acceptor_gain | 0.9800 |
| 17:39730401:GCTC:G | donor_loss | 0.9800 |
| 17:39730402:CT:C | donor_loss | 0.9800 |
| 17:39730403:TCACC:T | donor_loss | 0.9800 |
| 17:39730404:C:CC | donor_loss | 0.9800 |
| 17:39730405:ACCAG:A | donor_loss | 0.9800 |
AlphaMissense
738 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:39729724:G:C | F75L | 1.000 |
| 17:39729724:G:T | F75L | 1.000 |
| 17:39729726:A:G | F75L | 1.000 |
| 17:39729754:A:C | F65L | 0.999 |
| 17:39729754:A:T | F65L | 0.999 |
| 17:39729756:A:G | F65L | 0.999 |
| 17:39729700:A:C | F83L | 0.998 |
| 17:39729700:A:T | F83L | 0.998 |
| 17:39729702:A:G | F83L | 0.998 |
| 17:39729723:A:G | S76P | 0.998 |
| 17:39729725:A:G | F75S | 0.998 |
| 17:39729596:C:G | A92P | 0.997 |
| 17:39729701:A:G | F83S | 0.997 |
| 17:39729755:A:G | F65S | 0.997 |
| 17:39729698:G:T | P84H | 0.996 |
| 17:39729718:C:A | K77N | 0.996 |
| 17:39729718:C:G | K77N | 0.996 |
| 17:39729722:G:A | S76F | 0.996 |
| 17:39729726:A:T | F75I | 0.996 |
| 17:39729755:A:C | F65C | 0.996 |
| 17:39730276:G:C | F35L | 0.996 |
| 17:39730276:G:T | F35L | 0.996 |
| 17:39730278:A:G | F35L | 0.996 |
| 17:39729699:G:A | P84S | 0.995 |
| 17:39729726:A:C | F75V | 0.995 |
| 17:39729749:A:T | I67K | 0.995 |
| 17:39730256:A:G | L42P | 0.995 |
| 17:39729604:A:G | L89P | 0.994 |
| 17:39729701:A:C | F83C | 0.994 |
| 17:39730254:C:G | A43P | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000298507 (17:39731547 C>G,T), RS1003838197 (17:39732174 T>C), RS1003905622 (17:39728472 C>G), RS1004002141 (17:39730927 T>G), RS1004429073 (17:39730622 C>A,T), RS1005313969 (17:39729615 T>C), RS1005925335 (17:39730870 G>T), RS1006287487 (17:39730607 C>G), RS1006884136 (17:39731955 C>A,T), RS1006934556 (17:39732166 C>T), RS1007494898 (17:39729097 G>A), RS1008997558 (17:39729095 C>T), RS1009360181 (17:39728857 A>T), RS1009889319 (17:39729852 C>G), RS1010941434 (17:39730073 A>G)
Disease associations
OMIM: gene MIM:611802 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000624_15 | Ulcerative colitis | 3.000000e-08 |
| GCST003155_23 | Systemic lupus erythematosus | 8.000000e-09 |
| GCST005212_9 | Asthma | 2.000000e-30 |
| GCST005752_156 | Systemic lupus erythematosus | 2.000000e-12 |
| GCST007564_21 | Asthma or allergic disease (pleiotropy) | 4.000000e-17 |
| GCST008916_10 | Asthma | 5.000000e-09 |
| GCST008916_21 | Asthma | 2.000000e-62 |
| GCST008916_45 | Asthma | 3.000000e-10 |
| GCST008916_86 | Asthma | 2.000000e-14 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cannabidiol | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2CE | HAP1 MIEN1 (-) 2 | Cancer cell line | Male |
| CVCL_XQ54 | HAP1 MIEN1 (-) 1 | 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.