MTPN
gene geneOn this page
Also known as MYOTROPHINGCDPV-1
Summary
MTPN (myotrophin, HGNC:15667) is a protein-coding gene on chromosome 7q33, encoding Myotrophin (P58546). Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity.
The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3’ end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease.
Source: NCBI Gene 136319 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 1 total
- Druggable target: yes
- MANE Select transcript:
NM_145808
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15667 |
| Approved symbol | MTPN |
| Name | myotrophin |
| Location | 7q33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MYOTROPHIN, GCDP, V-1 |
| Ensembl gene | ENSG00000105887 |
| Ensembl biotype | protein_coding |
| OMIM | 606484 |
| Entrez | 136319 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000393085, ENST00000435723, ENST00000874999
RefSeq mRNA: 1 — MANE Select: NM_145808
NM_145808
CCDS: CCDS5842
Canonical transcript exons
ENST00000393085 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000725079 | 135950599 | 135950682 |
| ENSE00000725085 | 135951517 | 135951630 |
| ENSE00001514152 | 135926760 | 135930012 |
| ENSE00001627701 | 135977029 | 135977359 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 104.2523 / max 872.8772, expressed in 1827 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86379 | 104.2523 | 1827 |
| 204784 | 0.4978 | 185 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardiac muscle of right atrium | UBERON:0003379 | 99.58 | gold quality |
| upper arm skin | UBERON:0004263 | 99.50 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.44 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.08 | gold quality |
| superficial temporal artery | UBERON:0001614 | 99.00 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.99 | gold quality |
| monocyte | CL:0000576 | 98.97 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.95 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.93 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.93 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.89 | gold quality |
| leukocyte | CL:0000738 | 98.87 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.85 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.77 | gold quality |
| oral cavity | UBERON:0000167 | 98.73 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.66 | gold quality |
| myocardium | UBERON:0002349 | 98.63 | gold quality |
| parietal lobe | UBERON:0001872 | 98.62 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 98.53 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.49 | gold quality |
| oviduct epithelium | UBERON:0004804 | 98.47 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.45 | gold quality |
| upper leg skin | UBERON:0004262 | 98.45 | gold quality |
| parietal pleura | UBERON:0002400 | 98.44 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.44 | gold quality |
| cortical plate | UBERON:0005343 | 98.41 | gold quality |
| adult organism | UBERON:0007023 | 98.40 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.39 | gold quality |
| decidua | UBERON:0002450 | 98.36 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.36 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 21.19 |
| E-MTAB-9221 | yes | 19.06 |
| E-HCAD-13 | yes | 7.54 |
| E-MTAB-7606 | no | 798.36 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
188 targeting MTPN, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
Literature-anchored findings (GeneRIF, showing 8)
- myotrophin/V-1 is a regulatory protein for modulating the levels of activated NFkappaB dimers. (PMID:11971907)
- a novel internal ribosome entry site-mediated mechanism may be responsible for the translation of unconventional self-Ag MPD6 in response to IFN-alpha stimulation. (PMID:16982933)
- T allele of rs17168525 in the 3’-UTR of myotrophin influence the level of myotrophin protein by interfering with let-7 binding.The T allele of MTPN rs17168525 is not associated with the left ventricular hypertrophy risk in essential hypertension patients. (PMID:26274321)
- In our findings 9cRA emerges has a hormone with a regulatory action on miR-375 that in most cases interfere with Mtpn expression. (PMID:28300567)
- V-1 and CARMIL induce changes in both proteins’ binding sites on the surface of capping proteins, along with a set of internal residues. (PMID:29847807)
- Lysyl oxidase suppresses the inflammatory response in anterior cruciate ligament fibroblasts and promotes tissue regeneration by targeting myotrophin via the nuclear factor-kappa B pathway. (PMID:32483895)
- Crystal structure of human V-1 in the apo form. (PMID:33439151)
- The ATO/miRNA-885-5p/MTPN axis induces reversal of drug-resistance in cholangiocarcinoma. (PMID:34170484)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mtpn | ENSDARG00000104018 |
| mus_musculus | Mtpn | ENSMUSG00000029840 |
| rattus_norvegicus | Mtpn | ENSRNOG00000011857 |
Paralogs (1): ANKRD7 (ENSG00000106013)
Protein
Protein identifiers
Myotrophin — P58546 (reviewed: P58546)
Alternative names: Protein V-1
All UniProt accessions (3): P58546, C9JL85, Q69YG1
UniProt curated annotations — full annotation on UniProt →
Function. Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity. Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy.
Subunit / interactions. Interacts with RELA. Interacts with the heterodimer formed by CAPZA1 and CAPZB.
Subcellular location. Cytoplasm. Nucleus. Perinuclear region.
Tissue specificity. Ubiquitous.
Induction. Up-regulated in heart left ventricle of patients with severe coronary artery disease and history of myocardial ischemia. Up-regulated in heart left ventricle of patients with dilated cardiomyopathy.
Miscellaneous. This protein is produced by a bicistronic gene which also produces the MPD6 protein from a non-overlapping reading frame. MPD6 belongs to a group of cryptic antigens without conventional genomic structure. It is encoded by a cryptic open reading frame located in the 3’-untranslated region of MTPN.
Similarity. Belongs to the myotrophin family.
RefSeq proteins (1): NP_665807* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
Pfam: PF12796
UniProt features (19 total): helix 8, modified residue 5, repeat 3, initiator methionine 1, chain 1, turn 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3AAA | X-RAY DIFFRACTION | 2.2 |
| 7DF7 | X-RAY DIFFRACTION | 2.3 |
| 7DSB | X-RAY DIFFRACTION | 2.44 |
| 7DSA | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P58546-F1 | 88.22 | 0.42 |
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 (5): 2, 4, 11, 24, 31
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 235 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, AAGCAAT_MIR137, HORIUCHI_WTAP_TARGETS_DN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_MUSCLE_TISSUE_DEVELOPMENT, TGCGCANK_UNKNOWN, MODULE_151, CHUNG_BLISTER_CYTOTOXICITY_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_BARBED_END_ACTIN_FILAMENT_CAPPING, GOBP_GROWTH, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, GOBP_NEUROGENESIS, ATGCAGT_MIR217, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (10): regulation of translation (GO:0006417), regulation of cell size (GO:0008361), positive regulation of macromolecule biosynthetic process (GO:0010557), positive regulation of cardiac muscle hypertrophy (GO:0010613), regulation of striated muscle tissue development (GO:0016202), neuron differentiation (GO:0030182), positive regulation of cell growth (GO:0030307), obsolete positive regulation of NF-kappaB transcription factor activity (GO:0051092), positive regulation of protein metabolic process (GO:0051247), regulation of barbed-end actin filament capping (GO:2000812)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), F-actin capping protein complex (GO:0008290), perinuclear region of cytoplasm (GO:0048471)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of protein metabolic process | 2 |
| positive regulation of macromolecule metabolic process | 2 |
| cytoplasm | 2 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of cellular component size | 1 |
| macromolecule biosynthetic process | 1 |
| positive regulation of biosynthetic process | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| cardiac muscle hypertrophy | 1 |
| regulation of cardiac muscle hypertrophy | 1 |
| positive regulation of muscle hypertrophy | 1 |
| striated muscle tissue development | 1 |
| regulation of muscle organ development | 1 |
| regulation of muscle tissue development | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| positive regulation of growth | 1 |
| positive regulation of cellular process | 1 |
| protein metabolic process | 1 |
| regulation of actin filament polymerization | 1 |
| regulation of actin filament depolymerization | 1 |
| barbed-end actin filament capping | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| actin cytoskeleton | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1621 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MTPN | LUZP6 | Q538Z0 | 925 |
| MTPN | TMOD4 | Q9NZQ9 | 721 |
| MTPN | CAPZA1 | P52907 | 602 |
| MTPN | CAPZA2 | P47755 | 596 |
| MTPN | CARMIL1 | Q5VZK9 | 505 |
| MTPN | TLR3 | O15455 | 474 |
| MTPN | TLR8 | Q9NR97 | 463 |
| MTPN | ONECUT2 | O95948 | 457 |
| MTPN | SYTL4 | Q96C24 | 434 |
| MTPN | NFKB1 | P19838 | 426 |
| MTPN | INS | P01308 | 405 |
| MTPN | NFKBIA | P25963 | 402 |
| MTPN | RPH3AL | Q9UNE2 | 397 |
| MTPN | ZFP90 | Q8TF47 | 386 |
| MTPN | BDNF | P23560 | 377 |
| MTPN | WWP1 | Q9H0M0 | 377 |
IntAct
59 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAPZA1 | CAPZB | psi-mi:“MI:0407”(direct interaction) | 0.750 |
| CAPZA1 | CAPZB | psi-mi:“MI:0915”(physical association) | 0.750 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| MTPN | CAPZA2 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| HIF1AN | MTPN | psi-mi:“MI:0210”(hydroxylation reaction) | 0.440 |
| MTPN | AKTIP | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF69 | PEPD | psi-mi:“MI:0914”(association) | 0.350 |
| SOD1 | NPEPPSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP35 | CSTB | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP11B | RPN1 | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM24 | DDTL | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HTRA4 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP3K7 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL2 | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| G3BP2 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| MTPN | PLCG1 | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (169): DPY30 (Co-fractionation), GARS (Co-fractionation), MTPN (Co-fractionation), NPLOC4 (Co-fractionation), PIP4K2A (Co-fractionation), PIP4K2C (Co-fractionation), UBA1 (Co-fractionation), MTPN (Proximity Label-MS), MTPN (Proximity Label-MS), MTPN (Proximity Label-MS), MTPN (Proximity Label-MS), MTPN (Proximity Label-MS), MTPN (Proximity Label-MS), MTPN (Proximity Label-MS), MTPN (Proximity Label-MS)
ESM2 similar proteins: B0S794, O15084, O75832, P0A2U4, P0A2U5, P31968, P50086, P58546, P62774, P62775, P77736, Q0V9D9, Q10311, Q3T0F7, Q4R3S3, Q505D1, Q54HW1, Q54KH3, Q55FM5, Q5EA33, Q5FWY3, Q5RCK5, Q5TYQ3, Q5VYY1, Q5ZJJ9, Q62422, Q66KY0, Q6P1S6, Q6P686, Q6TGW5, Q6XJU9, Q7T0Q1, Q7T2B9, Q7ZYG4, Q83N02, Q83NH7, Q863Z4, Q8MJ49, Q8MJ50, Q8VE42
Diamond homologs: P58546, P62774, P62775, Q3T0F7, Q6P1S6, Q7T0Q1, Q7T2B9, Q863Z4, Q91955, O95271, Q3UES3, Q55FM5, Q6PFX9, Q8VD46, Q93650, Q9H2K2, Q9VBP3, Q54BA2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 72 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 |
|---|---|---|---|
| Signaling by BRAF and RAF1 fusions | 5 | 17.4× | 2e-03 |
| Loss of Nlp from mitotic centrosomes | 5 | 16.2× | 2e-03 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 5 | 16.2× | 2e-03 |
| AURKA Activation by TPX2 | 5 | 15.5× | 2e-03 |
| Recruitment of mitotic centrosome proteins and complexes | 5 | 13.9× | 3e-03 |
| Regulation of PLK1 Activity at G2/M Transition | 5 | 12.9× | 3e-03 |
| Recruitment of NuMA to mitotic centrosomes | 5 | 11.9× | 4e-03 |
| Anchoring of the basal body to the plasma membrane | 5 | 11.5× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
600 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:135930008:GCACC:G | acceptor_gain | 1.0000 |
| 7:135930009:CACC:C | acceptor_gain | 1.0000 |
| 7:135930009:CACCC:C | acceptor_gain | 1.0000 |
| 7:135930010:ACC:A | acceptor_gain | 1.0000 |
| 7:135930011:CC:C | acceptor_gain | 1.0000 |
| 7:135930011:CCC:C | acceptor_gain | 1.0000 |
| 7:135930012:CC:C | acceptor_gain | 1.0000 |
| 7:135930013:C:CC | acceptor_gain | 1.0000 |
| 7:135930013:C:CG | acceptor_loss | 1.0000 |
| 7:135930013:C:T | acceptor_gain | 1.0000 |
| 7:135930014:T:A | acceptor_loss | 1.0000 |
| 7:135950680:AGCCT:A | acceptor_gain | 1.0000 |
| 7:135950682:CC:C | acceptor_loss | 1.0000 |
| 7:135950682:CCTA:C | acceptor_gain | 1.0000 |
| 7:135950683:C:A | acceptor_loss | 1.0000 |
| 7:135950684:T:G | acceptor_loss | 1.0000 |
| 7:135951505:T:TA | donor_gain | 1.0000 |
| 7:135951512:CGTA:C | donor_gain | 1.0000 |
| 7:135951513:GTA:G | donor_loss | 1.0000 |
| 7:135951514:TACAT:T | donor_loss | 1.0000 |
| 7:135951515:A:AC | donor_gain | 1.0000 |
| 7:135951516:C:CA | donor_gain | 1.0000 |
| 7:135951516:CA:C | donor_gain | 1.0000 |
| 7:135951516:CAT:C | donor_gain | 1.0000 |
| 7:135951516:CATT:C | donor_gain | 1.0000 |
| 7:135951516:CATTA:C | donor_gain | 1.0000 |
| 7:135951627:CTCC:C | acceptor_gain | 1.0000 |
| 7:135951629:CC:C | acceptor_gain | 1.0000 |
| 7:135951630:CCTGA:C | acceptor_gain | 1.0000 |
| 7:135951631:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
764 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:135950609:A:G | L87P | 0.985 |
| 7:135950646:C:G | A75P | 0.983 |
| 7:135950606:A:G | L88P | 0.980 |
| 7:135951542:A:G | L54P | 0.980 |
| 7:135951576:C:G | A43P | 0.978 |
| 7:135950645:G:T | A75D | 0.977 |
| 7:135951539:A:G | L55P | 0.975 |
| 7:135950675:T:A | D65V | 0.973 |
| 7:135950609:A:T | L87H | 0.972 |
| 7:135929964:C:G | A107P | 0.971 |
| 7:135950642:A:T | V76D | 0.970 |
| 7:135951578:G:T | A42E | 0.968 |
| 7:135950651:A:G | L73P | 0.967 |
| 7:135950676:C:G | D65H | 0.967 |
| 7:135951544:A:C | F53L | 0.967 |
| 7:135951544:A:T | F53L | 0.967 |
| 7:135951546:A:G | F53L | 0.967 |
| 7:135951595:C:A | R36S | 0.967 |
| 7:135951595:C:G | R36S | 0.967 |
| 7:135977072:A:G | L10P | 0.967 |
| 7:135950654:A:G | L72P | 0.966 |
| 7:135950654:A:T | L72H | 0.965 |
| 7:135950657:G:T | P71H | 0.964 |
| 7:135950620:A:C | C83W | 0.963 |
| 7:135977084:A:G | F6S | 0.962 |
| 7:135950676:C:A | D65Y | 0.961 |
| 7:135929933:A:G | L117P | 0.960 |
| 7:135930009:C:G | A92P | 0.960 |
| 7:135951575:G:T | A43E | 0.959 |
| 7:135950649:A:G | S74P | 0.956 |
dbSNP variants (sampled 300 via entrez): RS1000031670 (7:135977455 G>GTGCGCA), RS1000104844 (7:135977363 G>A,C), RS1000132480 (7:135964943 A>G), RS1000209192 (7:135960240 A>G), RS1000230659 (7:135971935 G>A), RS1000242953 (7:135958473 T>C), RS1000254504 (7:135965390 A>G), RS1000255845 (7:135952128 C>T), RS1000334399 (7:135964905 A>T), RS1000385848 (7:135952440 T>C), RS1000395179 (7:135977479 G>A,T), RS1000436545 (7:135958381 A>G), RS1000495128 (7:135960205 C>T), RS1000710150 (7:135966274 C>T), RS1000770163 (7:135959441 G>A)
Disease associations
OMIM: gene MIM:606484 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004068_1 | Venous thromboembolism adjusted for sickle cell variant rs77121243-T | 9.000000e-06 |
| GCST004603_73 | Platelet count | 6.000000e-09 |
| GCST004616_192 | Platelet distribution width | 4.000000e-12 |
| GCST004860_4 | Alcoholic chronic pancreatitis | 6.000000e-06 |
| GCST90002395_704 | Mean platelet volume | 3.000000e-10 |
| GCST90002401_495 | Platelet distribution width | 2.000000e-23 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067232 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| chloropicrin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651840 | Binding | Binding affinity to human MTPN incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcoholic pancreatitis, venous thromboembolism