MXD3
gene geneOn this page
Also known as MAD3bHLHc13
Summary
MXD3 (MAX dimerization protein 3, HGNC:14008) is a protein-coding gene on chromosome 5q35.3, encoding Max dimerization protein 3 (Q9BW11). Transcriptional repressor.
This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.
Source: NCBI Gene 83463 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 62 total
- MANE Select transcript:
NM_031300
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14008 |
| Approved symbol | MXD3 |
| Name | MAX dimerization protein 3 |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MAD3, bHLHc13 |
| Ensembl gene | ENSG00000213347 |
| Ensembl biotype | protein_coding |
| OMIM | 609450 |
| Entrez | 83463 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron
ENST00000423571, ENST00000427908, ENST00000439742, ENST00000502529, ENST00000503473, ENST00000503782, ENST00000509339, ENST00000513063, ENST00000513169, ENST00000927425, ENST00000927426, ENST00000927427, ENST00000927428
RefSeq mRNA: 4 — MANE Select: NM_031300
NM_001142935, NM_001394986, NM_001394987, NM_031300
CCDS: CCDS4416, CCDS47347
Canonical transcript exons
ENST00000439742 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001157956 | 177311379 | 177311484 |
| ENSE00001742468 | 177307210 | 177307703 |
| ENSE00002061389 | 177311761 | 177311898 |
| ENSE00003491608 | 177310668 | 177310697 |
| ENSE00003557719 | 177310426 | 177310540 |
| ENSE00003587221 | 177307781 | 177307964 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 94.09.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2626 / max 342.1206, expressed in 1433 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65074 | 12.3581 | 1403 |
| 65073 | 0.9045 | 83 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 94.09 | gold quality |
| granulocyte | CL:0000094 | 93.37 | gold quality |
| diaphragm | UBERON:0001103 | 92.85 | gold quality |
| monocyte | CL:0000576 | 92.22 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.11 | silver quality |
| mononuclear cell | CL:0000842 | 92.04 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.81 | gold quality |
| leukocyte | CL:0000738 | 91.34 | gold quality |
| blood | UBERON:0000178 | 90.76 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.34 | gold quality |
| spleen | UBERON:0002106 | 90.05 | gold quality |
| embryo | UBERON:0000922 | 88.78 | gold quality |
| bone marrow | UBERON:0002371 | 88.45 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.68 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 86.84 | silver quality |
| mucosa of stomach | UBERON:0001199 | 86.82 | gold quality |
| right uterine tube | UBERON:0001302 | 85.93 | gold quality |
| bone marrow cell | CL:0002092 | 85.78 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.58 | gold quality |
| left uterine tube | UBERON:0001303 | 85.40 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.05 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 85.04 | gold quality |
| periodontal ligament | UBERON:0008266 | 84.60 | silver quality |
| transverse colon | UBERON:0001157 | 84.54 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 84.53 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 84.52 | gold quality |
| olfactory bulb | UBERON:0002264 | 84.39 | silver quality |
| cerebellar vermis | UBERON:0004720 | 84.39 | gold quality |
| body of pancreas | UBERON:0001150 | 84.29 | gold quality |
| esophagus | UBERON:0001043 | 84.24 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 29.89 |
| E-ANND-3 | yes | 9.07 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, TP63
miRNA regulators (miRDB)
105 targeting MXD3, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| 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-95-5P | 99.89 | 72.17 | 3973 |
| 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 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520D-3P | 99.83 | 70.78 | 1676 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
Literature-anchored findings (GeneRIF, showing 5)
- Increased level and/or duration of MXD3 expression ultimately reduces cell numbers via increased cell death and cell cycle arrest in medulloblastoma cells. (PMID:22808009)
- Acute MXD3 activation results in a transient increase in DAOY cell proliferation while persistent activation of MXD3 results in an overall decrease in cell number, suggesting that the time course of MXD3 expression dictates the cellular outcome. (PMID:25053245)
- The results suggest that MXD3 is important for survival of Reh preB ALL cells, possibly as an anti-apoptotic factor. (PMID:25554682)
- results indicate that MXD3 is a potential new target and that the use of MXD3 siRNA nanocomplexes is a novel therapeutic approach for neuroblastoma (PMID:28419087)
- MXD3 Promotes Obesity and the Androgen Receptor Signaling Pathway in Gender-Disparity Hepatocarcinogenesis. (PMID:34943942)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mxd3 | ENSDARG00000098350 |
| mus_musculus | Mxd3 | ENSMUSG00000021485 |
| rattus_norvegicus | Mxd3 | ENSRNOG00000070523 |
| caenorhabditis_elegans | WBGENE00003163 |
Paralogs (4): MXD1 (ENSG00000059728), MNT (ENSG00000070444), MXI1 (ENSG00000119950), MXD4 (ENSG00000123933)
Protein
Protein identifiers
Max dimerization protein 3 — Q9BW11 (reviewed: Q9BW11)
Alternative names: Class C basic helix-loop-helix protein 13, Max-associated protein 3, Max-interacting transcriptional repressor MAD3, Myx
All UniProt accessions (3): D6RD21, D6RED4, Q9BW11
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5’-CAC[GA]TG-3’. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation.
Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with SIN3A AND SIN3B. Interacts with RNF17.
Subcellular location. Nucleus.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BW11-1 | 1 | yes |
| Q9BW11-2 | 2 | |
| Q9BW11-3 | 3 | |
| Q9BW11-4 | 4 |
RefSeq proteins (4): NP_001136407, NP_001381915, NP_001381916, NP_112590* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
Pfam: PF00010
UniProt features (13 total): sequence conflict 4, region of interest 3, splice variant 3, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BW11-F1 | 74.64 | 0.40 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 215 (showing top):
E2F_Q4, E2F_Q4_01, TGCGCANK_UNKNOWN, E2F4DP1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOLDRATH_ANTIGEN_RESPONSE, IRF7_01, E2F1DP1_01, E2F_Q3, E2F1DP2_01, DOANE_RESPONSE_TO_ANDROGEN_DN, MYB_Q3, AFFAR_YY1_TARGETS_DN, E2F1_Q3
GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of transcription by RNA polymerase II (GO:0000122), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (7): 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), protein dimerization activity (GO:0046983), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), RNA polymerase II transcription regulator complex (GO:0090575), 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 DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| negative 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 |
| protein binding | 1 |
| transcription cis-regulatory region binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
674 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MXD3 | MLXIP | Q9HAP2 | 519 |
| MXD3 | TEX26 | Q8N6G2 | 496 |
| MXD3 | ESRRA | P11474 | 456 |
| MXD3 | MAX | P25912 | 449 |
| MXD3 | SYNGR4 | O95473 | 437 |
| MXD3 | LTC4S | Q16873 | 412 |
| MXD3 | MGA | Q8IWI9 | 402 |
| MXD3 | MLXIPL | Q9NP71 | 398 |
| MXD3 | KIAA1191 | Q96A73 | 393 |
| MXD3 | NOMO2 | Q5JPE7 | 392 |
| MXD3 | MLX | Q9UH92 | 388 |
| MXD3 | PLEKHB1 | Q9UF11 | 386 |
| MXD3 | PREB | Q9HCU5 | 383 |
| MXD3 | NOMO3 | P69849 | 379 |
| MXD3 | HMGN4 | O00479 | 376 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAX | E2F6 | psi-mi:“MI:0914”(association) | 0.710 |
| MXD3 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.670 |
| MXD3 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MXD3 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | MXD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | MXD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | MXD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | MXD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | MXD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-1 | MXD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MXD3 | KRTAP3-3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUP62 | MXD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA11 | MXD3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MXD3 | SAP30 | psi-mi:“MI:0914”(association) | 0.350 |
| MXD3 | PCK1 | psi-mi:“MI:0914”(association) | 0.350 |
| MXD3 | KRT31 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MXD3 | CYSRT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MXD3 | NOTCH2NLC | psi-mi:“MI:0915”(physical association) | 0.000 |
| MXD3 | NUP62 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MXD3 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MXD3 | KRTAP1-3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MXD3 | KRTAP1-1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (74): KRTAP10-7 (Two-hybrid), NOTCH2NL (Two-hybrid), MXD3 (Two-hybrid), MNT (Affinity Capture-MS), SIN3A (Affinity Capture-MS), SAP30L (Affinity Capture-MS), SUDS3 (Affinity Capture-MS), ARID4B (Affinity Capture-MS), SAP130 (Affinity Capture-MS), ING2 (Affinity Capture-MS), BRMS1L (Affinity Capture-MS), TSPYL2 (Affinity Capture-MS), NUP62CL (Affinity Capture-MS), TFIP11 (Affinity Capture-MS), KIF20B (Affinity Capture-MS)
ESM2 similar proteins: A4IFK0, A6NI15, D2CLZ9, O15040, O55208, P10158, P11939, P15407, P23050, P29176, P39881, P97303, P97432, Q14596, Q3TVI4, Q4KMA0, Q501R9, Q53GL0, Q5BJM5, Q5F3F2, Q5R802, Q5RA50, Q5RC94, Q5SUE8, Q62912, Q66HA2, Q68CJ9, Q6AI12, Q6AY70, Q6PKU1, Q6QB00, Q6QHK4, Q7TS99, Q80US8, Q861R7, Q86V42, Q86YI8, Q8BQR4, Q8K2W6, Q90ZL1
Diamond homologs: G5EG44, O09015, P50538, P50539, P50540, P50541, Q05195, Q0VFI9, Q0VH33, Q0VH34, Q14582, Q28DB3, Q60948, Q62912, Q7SX95, Q80US8, Q9BW11, O08789, P28574, P52162, P52164, P61244, P61245, Q07016, Q0VH32, Q99583, A1YG22, A2T7L5, B8XIA5, P01106, P01108, P01109, P01110, P03966, P04198, P06171, P06646, P09416, P0C0N8, P0C0N9
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAX | “up-regulates activity” | MXD3 | binding |
| SMC3 | “down-regulates activity” | MXD3 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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 |
|---|---|---|---|
| Keratinization | 5 | 21.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3213 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:177302395:A:AC | donor_gain | 1.0000 |
| 5:177302396:C:CC | donor_gain | 1.0000 |
| 5:177302396:CTGT:C | donor_gain | 1.0000 |
| 5:177302406:A:AC | donor_gain | 1.0000 |
| 5:177302417:T:TA | donor_gain | 1.0000 |
| 5:177302492:CAGCC:C | acceptor_gain | 1.0000 |
| 5:177302495:CC:C | acceptor_gain | 1.0000 |
| 5:177302496:CC:C | acceptor_gain | 1.0000 |
| 5:177302496:CCTGA:C | acceptor_loss | 1.0000 |
| 5:177302497:C:CG | acceptor_loss | 1.0000 |
| 5:177302654:CGGCA:C | acceptor_gain | 1.0000 |
| 5:177302655:G:T | acceptor_gain | 1.0000 |
| 5:177302657:C:CT | acceptor_gain | 1.0000 |
| 5:177302658:A:AC | acceptor_gain | 1.0000 |
| 5:177302658:A:C | acceptor_gain | 1.0000 |
| 5:177302661:C:CT | acceptor_gain | 1.0000 |
| 5:177303003:ACTT:A | donor_loss | 1.0000 |
| 5:177303005:TTA:T | donor_loss | 1.0000 |
| 5:177303006:T:TG | donor_loss | 1.0000 |
| 5:177303007:A:AC | donor_gain | 1.0000 |
| 5:177303007:AC:A | donor_gain | 1.0000 |
| 5:177303008:C:CC | donor_gain | 1.0000 |
| 5:177303008:CC:C | donor_gain | 1.0000 |
| 5:177303074:TGGT:T | acceptor_gain | 1.0000 |
| 5:177303075:GGTCT:G | acceptor_loss | 1.0000 |
| 5:177303077:TCTGC:T | acceptor_loss | 1.0000 |
| 5:177303078:C:CC | acceptor_gain | 1.0000 |
| 5:177303078:CTG:C | acceptor_loss | 1.0000 |
| 5:177303079:T:G | acceptor_loss | 1.0000 |
| 5:177303084:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
1309 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:177310668:C:A | R69M | 0.998 |
| 5:177310466:G:A | T94I | 0.997 |
| 5:177310529:A:G | L73S | 0.997 |
| 5:177310537:C:A | R70S | 0.997 |
| 5:177310537:C:G | R70S | 0.997 |
| 5:177310676:C:A | E66D | 0.997 |
| 5:177310676:C:G | E66D | 0.997 |
| 5:177310442:G:T | A102D | 0.996 |
| 5:177310538:C:A | R70M | 0.996 |
| 5:177310540:C:A | R69S | 0.996 |
| 5:177310540:C:G | R69S | 0.996 |
| 5:177310668:C:G | R69T | 0.996 |
| 5:177310451:A:G | L99P | 0.995 |
| 5:177310508:A:G | L80P | 0.995 |
| 5:177310673:C:A | K67N | 0.995 |
| 5:177310673:C:G | K67N | 0.995 |
| 5:177310443:C:G | A102P | 0.994 |
| 5:177310454:A:G | L98P | 0.994 |
| 5:177310538:C:G | R70T | 0.994 |
| 5:177310690:G:C | H62D | 0.994 |
| 5:177307960:A:G | L109P | 0.993 |
| 5:177310451:A:T | L99Q | 0.993 |
| 5:177310504:C:A | K81N | 0.992 |
| 5:177310504:C:G | K81N | 0.992 |
| 5:177310677:T:A | E66V | 0.992 |
| 5:177310678:C:T | E66K | 0.992 |
| 5:177311780:G:C | F17L | 0.992 |
| 5:177311780:G:T | F17L | 0.992 |
| 5:177311782:A:G | F17L | 0.992 |
| 5:177311787:G:T | A15D | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000246353 (5:177312479 C>T), RS1000480379 (5:177311708 G>A,C), RS1000526900 (5:177313943 T>G), RS1000584174 (5:177312159 C>A,G,T), RS1001044130 (5:177308321 T>A), RS1001095149 (5:177308076 C>A,G), RS1001208636 (5:177311508 C>A,G,T), RS1001261160 (5:177311356 C>A,T), RS1002048416 (5:177307431 A>G), RS1002435258 (5:177314598 A>C,G), RS1002763570 (5:177309068 C>T), RS1003201377 (5:177313247 CAT>C), RS1003376149 (5:177308036 A>G), RS1003420728 (5:177313430 C>A), RS1003551935 (5:177310342 C>G,T)
Disease associations
OMIM: gene MIM:609450 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001574_7 | Activated partial thromboplastin time | 6.000000e-88 |
| GCST001762_35 | Obesity-related traits | 2.000000e-06 |
| GCST001762_798 | Obesity-related traits | 2.000000e-06 |
| GCST004632_116 | Lymphocyte percentage of white cells | 3.000000e-13 |
| GCST004633_56 | Neutrophil percentage of white cells | 1.000000e-11 |
| GCST005956_15 | Waist-to-hip ratio adjusted for BMI | 1.000000e-07 |
| GCST005957_13 | Waist-to-hip ratio adjusted for BMI (age <50) | 3.000000e-07 |
| GCST005962_42 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 1.000000e-08 |
| GCST006627_61 | Diastolic blood pressure | 9.000000e-10 |
| GCST007485_3 | Anthropometric traits | 3.000000e-67 |
| GCST007490_8 | Anthropometric traits (multi-trait analysis) | 2.000000e-36 |
| GCST007725_20 | Serum uric acid levels | 4.000000e-08 |
| GCST007733_28 | Serum uric acid levels | 3.000000e-07 |
| GCST012226_74 | Waist circumference adjusted for body mass index | 3.000000e-13 |
| GCST012228_120 | Waist-hip index | 6.000000e-11 |
| GCST012228_122 | Waist-hip index | 2.000000e-12 |
| GCST012229_96 | Hip index | 3.000000e-08 |
| GCST012230_19 | Waist-to-hip ratio adjusted for BMI | 5.000000e-10 |
| GCST012230_22 | Waist-to-hip ratio adjusted for BMI | 2.000000e-10 |
| GCST90002389_273 | Lymphocyte percentage of white cells | 1.000000e-25 |
| GCST90002399_432 | Neutrophil percentage of white cells | 8.000000e-22 |
| GCST90002400_656 | Plateletcrit | 5.000000e-09 |
| GCST90002402_716 | Platelet count | 5.000000e-13 |
| GCST90020029_1504 | Waist circumference adjusted for body mass index | 6.000000e-09 |
| GCST90020029_1507 | Waist circumference adjusted for body mass index | 6.000000e-12 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004324 | body weights and measures |
| EFO:0004761 | uric acid measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases expression, affects expression, decreases expression | 3 |
| sodium arsenite | decreases expression | 2 |
| Curcumin | decreases expression | 2 |
| Estradiol | decreases expression | 2 |
| Ozone | affects cotreatment, increases expression, increases abundance, affects expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases expression, increases abundance, affects cotreatment | 1 |
| propionaldehyde | decreases expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| abrine | decreases expression | 1 |
| NSC668394 | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Troglitazone | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Arsenic | affects expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cycloheximide | affects cotreatment, increases expression | 1 |
| Cytarabine | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Smoke | 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_A4G4 | SEES3-1V human MXD3, clone1 | Embryonic stem cell | Male |
| CVCL_A4G5 | SEES3-1V human MXD3, clone2 | Embryonic stem cell | Male |
| CVCL_A4G6 | SEES3-1V human MXD3, clone3 | Embryonic stem cell | 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.