MNT
gene geneOn this page
Also known as ROXMXD6MAD6bHLHd3lncRNA-HAL
Summary
MNT (MAX network transcriptional repressor, HGNC:7188) is a protein-coding gene on chromosome 17p13.3, encoding Max-binding protein MNT (Q99583). Binds DNA as a heterodimer with MAX and represses transcription.
The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain.
Source: NCBI Gene 4335 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 91 total
- Transcription factor: yes — 11 downstream targets (CollecTRI)
- MANE Select transcript:
NM_020310
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7188 |
| Approved symbol | MNT |
| Name | MAX network transcriptional repressor |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ROX, MXD6, MAD6, bHLHd3, lncRNA-HAL |
| Ensembl gene | ENSG00000070444 |
| Ensembl biotype | protein_coding |
| OMIM | 603039 |
| Entrez | 4335 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding_CDS_not_defined, 3 protein_coding, 2 retained_intron
ENST00000174618, ENST00000571232, ENST00000571836, ENST00000572892, ENST00000573384, ENST00000574559, ENST00000575374, ENST00000575394, ENST00000575402, ENST00000860066
RefSeq mRNA: 1 — MANE Select: NM_020310
NM_020310
CCDS: CCDS11018
Canonical transcript exons
ENST00000174618 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000947170 | 2394875 | 2395454 |
| ENSE00000947171 | 2394305 | 2394346 |
| ENSE00000947172 | 2394043 | 2394154 |
| ENSE00001279419 | 2384073 | 2387649 |
| ENSE00001490476 | 2400640 | 2401060 |
| ENSE00003597659 | 2387857 | 2388049 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4432 / max 217.0966, expressed in 1803 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163825 | 12.5656 | 1783 |
| 163826 | 3.9441 | 1633 |
| 163824 | 1.1854 | 737 |
| 163822 | 0.4332 | 122 |
| 163823 | 0.3149 | 131 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cervix squamous epithelium | UBERON:0006922 | 98.39 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.21 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.90 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 95.74 | gold quality |
| endothelial cell | CL:0000115 | 95.68 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 94.73 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 93.61 | gold quality |
| sural nerve | UBERON:0015488 | 93.54 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.46 | silver quality |
| orbitofrontal cortex | UBERON:0004167 | 93.12 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 93.06 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 92.52 | gold quality |
| cervix epithelium | UBERON:0004801 | 92.28 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.90 | silver quality |
| epithelium of mammary gland | UBERON:0003244 | 91.70 | gold quality |
| mammary duct | UBERON:0001765 | 91.58 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.11 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.10 | gold quality |
| inferior olivary complex | UBERON:0002127 | 90.87 | gold quality |
| entorhinal cortex | UBERON:0002728 | 90.65 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.61 | gold quality |
| gingiva | UBERON:0001828 | 90.56 | gold quality |
| occipital lobe | UBERON:0002021 | 90.15 | gold quality |
| blood | UBERON:0000178 | 90.10 | gold quality |
| hair follicle | UBERON:0002073 | 89.91 | silver quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 89.91 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 89.28 | gold quality |
| olfactory bulb | UBERON:0002264 | 89.16 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.10 | gold quality |
| parietal pleura | UBERON:0002400 | 89.07 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.28 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
11 targets.
| Target | Regulation |
|---|---|
| CCND2 | |
| ERG | Unknown |
| GLMN | |
| HAP1 | |
| IL1B | |
| KRAS | |
| MAX | |
| MNT | |
| RSPH1 | Unknown |
| TERT | |
| TP53 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0825.1 | MNT | bHLH-ZIP |
| MA0825.2 | MNT | bHLH-ZIP |
JASPAR matrix evidence (PMIDs): PMID:12695332
Upstream regulators (CollecTRI, top): APEX1, MNT, MYC
miRNA regulators (miRDB)
172 targeting MNT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| 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-302E | 99.96 | 70.74 | 2669 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
Literature-anchored findings (GeneRIF, showing 13)
- downregulation MYCN was reflected in a decreased MYCN/Max DNA-binding activity while the Mnt/Max binding did not change during differentiation (PMID:15258910)
- Serum stimulation of quiescent cells results in phosphorylation of Mnt and disruption of the critical Mnt-mSin3-HDAC1 interaction. This in turn leads to increased expression of the Myc/Mnt target gene cyclin D2. Review. (PMID:17419941)
- Mad1, Mxi1 and Rox genes were expressed and displayed mutations in haematological malignancies. (PMID:17577784)
- Mxd1 D112a and Max N78a and H81d, which are located in the leucine zippers of the proteins, can dictate the specificity of heterodimerization and whether or not the Mxd1/Max/DNA complex forms. (PMID:18155722)
- Missense mutations in Mad1, Mxi1 and Rox were found in acute leukemia patients. (PMID:18457265)
- The switch from Mnt-Max to Myc-Max during bile duct ligation (cholestasis) and in hepatocytes treated with lithocholic acid is responsible for the induction in p53 and cyclin D1 expression and contributes to apoptosis. (PMID:19086036)
- The results suggest that MNT, via interaction with Nck1, inhibits hepatoma cell migration. (PMID:22964333)
- The data demonstrate that the balance between c-Myc and Mnt activity determines the transcriptional outcome of the hTERT promoter by modulation of the chromatin architecture. (PMID:23860446)
- Here we review the activities of MYC, MNT and other MAX interacting proteins in the setting of T and B cell activation and oncogenesis (PMID:24731854)
- In vitro, uremia induced dysregulation of DNA methylation in differentiating monocytes, which affected several transcription regulators important for monocyte differentiation (e.g., FLT3, HDAC1, MNT) and led to enhanced generation of intermediate monocytes. (PMID:27018948)
- The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells. (PMID:31919096)
- Mnt Represses Epithelial Identity To Promote Epithelial-to-Mesenchymal Transition. (PMID:34460331)
- MNT inhibits lung adenocarcinoma ferroptosis and chemosensitivity by suppressing SAT1. (PMID:38831092)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mnta | ENSDARG00000101859 |
| mus_musculus | Mnt | ENSMUSG00000000282 |
| rattus_norvegicus | Mnt | ENSRNOG00000002894 |
| caenorhabditis_elegans | WBGENE00003163 |
Paralogs (4): MXD1 (ENSG00000059728), MXI1 (ENSG00000119950), MXD4 (ENSG00000123933), MXD3 (ENSG00000213347)
Protein
Protein identifiers
Max-binding protein MNT — Q99583 (reviewed: Q99583)
Alternative names: Class D basic helix-loop-helix protein 3, Myc antagonist MNT, Protein ROX
All UniProt accessions (2): Q99583, V9GY02
UniProt curated annotations — full annotation on UniProt →
Function. Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5’-CACGTG-3’ and, with higher affinity, to 5’-CACGCG-3'.
Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer with MAX.
Subcellular location. Nucleus.
RefSeq proteins (1): NP_064706* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
Pfam: PF00010
UniProt features (19 total): compositionally biased region 11, region of interest 3, initiator methionine 1, chain 1, modified residue 1, sequence variant 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99583-F1 | 60.87 | 0.24 |
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 (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 377 (showing top):
RNGTGGGC_UNKNOWN, BROWNE_HCMV_INFECTION_6HR_DN, PAX4_01, FISCHER_G1_S_CELL_CYCLE, LFA1_Q6, ATACCTC_MIR202, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, TGACCTY_ERR1_Q2, AP2_Q3, CACCAGC_MIR138, GOBP_CELLULAR_SENESCENCE, GGGTGGRR_PAX4_03, USF_C, YY1_Q6, AACWWCAANK_UNKNOWN
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), regulation of cell cycle (GO:0051726), cellular senescence (GO:0090398), negative regulation of apoptotic signaling pathway (GO:2001234), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (10): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), identical protein binding (GO:0042802), protein dimerization activity (GO:0046983), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), nucleoplasm (GO:0005654), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| DNA-templated transcription | 2 |
| transcription cis-regulatory region binding | 2 |
| binding | 2 |
| protein binding | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| cellular process | 1 |
| cellular response to stress | 1 |
| negative regulation of signal transduction | 1 |
| negative regulation of apoptotic process | 1 |
| apoptotic signaling pathway | 1 |
| regulation of apoptotic signaling pathway | 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 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transcription regulator activity | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
784 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MNT | MXD4 | Q14582 | 895 |
| MNT | MLX | Q9UH92 | 872 |
| MNT | MYC | P01106 | 776 |
| MNT | MLXIPL | Q9NP71 | 729 |
| MNT | SIN3A | Q96ST3 | 724 |
| MNT | MYCN | P04198 | 697 |
| MNT | NIF3L1 | Q9GZT8 | 666 |
| MNT | MXD1 | Q05195 | 623 |
| MNT | CISD1 | Q9NZ45 | 591 |
| MNT | PKLR | P11973 | 588 |
| MNT | MAX | P25912 | 570 |
| MNT | MLXIP | Q9HAP2 | 568 |
| MNT | HIC1 | Q14526 | 555 |
| MNT | MYCL | P12524 | 549 |
| MNT | WSB1 | Q9Y6I7 | 548 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MNT | MAX | psi-mi:“MI:0915”(physical association) | 0.810 |
| MAX | MNT | psi-mi:“MI:0915”(physical association) | 0.810 |
| MAX | E2F6 | psi-mi:“MI:0914”(association) | 0.710 |
| NCK2 | MNT | psi-mi:“MI:0915”(physical association) | 0.560 |
| MNT | MNT | psi-mi:“MI:0915”(physical association) | 0.510 |
| Sin3a | MNT | psi-mi:“MI:0915”(physical association) | 0.510 |
| Dlg4 | MNT | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MNT | SMS | psi-mi:“MI:0915”(physical association) | 0.400 |
| MNT | ITGB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MNT | TPR | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIN3 | MNT | psi-mi:“MI:0915”(physical association) | 0.370 |
| MLX | MNT | psi-mi:“MI:0915”(physical association) | 0.370 |
| Max | PABPN1 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXK2 | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAX | SMARCA5 | psi-mi:“MI:0914”(association) | 0.350 |
| MXD3 | SAP30 | psi-mi:“MI:0914”(association) | 0.350 |
| MAX | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| MLX | MGA | psi-mi:“MI:0914”(association) | 0.350 |
| KLF8 | USP27X | psi-mi:“MI:2364”(proximity) | 0.270 |
| KLF9 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (55): MNT (Two-hybrid), MNT (Affinity Capture-MS), MNT (Affinity Capture-MS), MNT (Affinity Capture-MS), MNT (Reconstituted Complex), MNT (Affinity Capture-Western), UBE3A (Affinity Capture-Western), MNT (Affinity Capture-MS), MNT (Affinity Capture-MS), MNT (Affinity Capture-MS), MNT (Affinity Capture-MS), MNT (Affinity Capture-MS), MNT (Positive Genetic), MNT (Protein-RNA), MNT (Affinity Capture-MS)
ESM2 similar proteins: A4IFD2, A4QNP0, O08789, O89038, O94842, P09086, P15257, P20823, P22361, P42128, P48436, P58462, P61753, P61754, P85037, Q00196, Q01167, Q0P5K4, Q0VH32, Q14814, Q29013, Q2LE08, Q3LHL9, Q3UCQ1, Q498D1, Q4VYS1, Q58NQ4, Q5F3U0, Q5M7C3, Q5R6A9, Q62901, Q63943, Q6DDH6, Q6DJL0, Q6IRR0, Q7ZUV7, Q7ZX03, Q8BIH0, Q8BU11, Q8CHI8
Diamond homologs: O08789, P28574, P50538, P50539, P52162, P52164, P61244, P61245, Q05195, Q07016, Q0VFI9, Q0VH32, Q0VH33, Q0VH34, Q28DB3, Q62912, Q7SX95, Q80US8, Q99583, Q9BW11, G5EG44, O09015, P50540, P50541, Q14582, Q60948, A1YG22, A2T7L5, B8XIA5, G5EEH5, O02818, P01106, P01108, P01109, P01110, P03966, P04198, P06171, P06295, P06646
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAX | “up-regulates activity” | MNT | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
91 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1424 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:2387646:CCCT:C | acceptor_gain | 1.0000 |
| 17:2387647:CCTC:C | acceptor_gain | 1.0000 |
| 17:2387851:GCTCA:G | donor_loss | 1.0000 |
| 17:2387852:CTCA:C | donor_loss | 1.0000 |
| 17:2387853:TCAC:T | donor_loss | 1.0000 |
| 17:2387854:CA:C | donor_loss | 1.0000 |
| 17:2387855:A:C | donor_loss | 1.0000 |
| 17:2387856:C:A | donor_loss | 1.0000 |
| 17:2388047:GGA:G | acceptor_gain | 1.0000 |
| 17:2388049:AC:A | acceptor_loss | 1.0000 |
| 17:2388050:C:CC | acceptor_gain | 1.0000 |
| 17:2388054:C:CT | acceptor_gain | 1.0000 |
| 17:2388058:CAGAG:C | acceptor_gain | 1.0000 |
| 17:2388062:G:GC | acceptor_gain | 1.0000 |
| 17:2394150:CCCTC:C | acceptor_gain | 1.0000 |
| 17:2394151:CCTCC:C | acceptor_gain | 1.0000 |
| 17:2394152:CTC:C | acceptor_gain | 1.0000 |
| 17:2395455:C:CC | acceptor_gain | 1.0000 |
| 17:2400639:CCA:C | donor_gain | 1.0000 |
| 17:2387648:CT:C | acceptor_gain | 0.9900 |
| 17:2387650:C:CC | acceptor_gain | 0.9900 |
| 17:2387855:A:AC | donor_gain | 0.9900 |
| 17:2387856:C:CC | donor_gain | 0.9900 |
| 17:2387886:T:TA | donor_gain | 0.9900 |
| 17:2388045:AGGGA:A | acceptor_gain | 0.9900 |
| 17:2388046:GGGA:G | acceptor_gain | 0.9900 |
| 17:2388048:GA:G | acceptor_gain | 0.9900 |
| 17:2388056:C:CT | acceptor_gain | 0.9900 |
| 17:2388059:A:T | acceptor_gain | 0.9900 |
| 17:2388062:G:C | acceptor_gain | 0.9900 |
AlphaMissense
3711 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:2387997:C:G | R287P | 1.000 |
| 17:2388003:A:G | L285P | 1.000 |
| 17:2388045:A:G | L271P | 1.000 |
| 17:2394047:A:T | I268N | 1.000 |
| 17:2394056:A:G | L265P | 1.000 |
| 17:2394059:G:T | A264E | 1.000 |
| 17:2394060:C:G | A264P | 1.000 |
| 17:2394068:A:C | L261R | 1.000 |
| 17:2394068:A:G | L261P | 1.000 |
| 17:2394068:A:T | L261Q | 1.000 |
| 17:2394077:A:G | L258P | 1.000 |
| 17:2394077:A:T | L258Q | 1.000 |
| 17:2394079:A:C | N257K | 1.000 |
| 17:2394079:A:T | N257K | 1.000 |
| 17:2394081:T:C | N257D | 1.000 |
| 17:2394083:G:A | S256F | 1.000 |
| 17:2394083:G:T | S256Y | 1.000 |
| 17:2394118:C:A | K244N | 1.000 |
| 17:2394118:C:G | K244N | 1.000 |
| 17:2394122:A:C | L243R | 1.000 |
| 17:2394122:A:G | L243P | 1.000 |
| 17:2394122:A:T | L243Q | 1.000 |
| 17:2394130:A:C | F240L | 1.000 |
| 17:2394130:A:T | F240L | 1.000 |
| 17:2394131:A:C | F240C | 1.000 |
| 17:2394131:A:G | F240S | 1.000 |
| 17:2394132:A:C | F240V | 1.000 |
| 17:2394132:A:G | F240L | 1.000 |
| 17:2394132:A:T | F240I | 1.000 |
| 17:2394133:G:C | C239W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000120213 (17:2401705 C>G,T), RS1000171535 (17:2390744 T>G), RS1000213502 (17:2393245 G>A,C), RS1000214954 (17:2383834 A>T), RS1000234548 (17:2389023 G>A), RS1000310696 (17:2384178 C>T), RS1000350059 (17:2389205 C>T), RS1000408412 (17:2388948 C>T), RS1000496770 (17:2392784 C>T), RS1000599309 (17:2392920 C>G), RS1000683026 (17:2388237 G>A), RS1000765055 (17:2401608 C>T), RS1000796163 (17:2401441 G>A), RS1000881694 (17:2401712 A>G,T), RS1000954827 (17:2392700 C>A,G,T)
Disease associations
OMIM: gene MIM:603039 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003130_4 | Autism spectrum disorder | 9.000000e-06 |
| GCST90000025_117 | Appendicular lean mass | 2.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, increases abundance, increases expression | 4 |
| Cisplatin | decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| geraniol | increases expression | 1 |
| arsenite | decreases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| celastrol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| gedunin | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methotrexate | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SY71 | HAP1 MNT (-) 1 | Cancer cell line | Male |
| CVCL_SY72 | HAP1 MNT (-) 2 | Cancer cell line | Male |
| CVCL_SY73 | HAP1 MNT (-) 3 | 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.