MYOM2
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Summary
MYOM2 (myomesin 2, HGNC:7614) is a protein-coding gene on chromosome 8p23.3, encoding Myomesin-2 (P54296). Major component of the vertebrate myofibrillar M band.
The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical.
Source: NCBI Gene 9172 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 521 total
- MANE Select transcript:
NM_003970
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7614 |
| Approved symbol | MYOM2 |
| Name | myomesin 2 |
| Location | 8p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000036448 |
| Ensembl biotype | protein_coding |
| OMIM | 603509 |
| Entrez | 9172 |
Gene structure
Transcript identifiers
Ensembl transcripts: 37 — 24 protein_coding, 11 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000262113, ENST00000517520, ENST00000518203, ENST00000518513, ENST00000518803, ENST00000519372, ENST00000519518, ENST00000519631, ENST00000520072, ENST00000520298, ENST00000520779, ENST00000523438, ENST00000523443, ENST00000612167, ENST00000621894, ENST00000887731, ENST00000887732, ENST00000887733, ENST00000887734, ENST00000887735, ENST00000887736, ENST00000953567, ENST00000953568, ENST00000953569, ENST00000953570, ENST00000953571, ENST00000953572, ENST00000953573, ENST00000953574, ENST00000953575, ENST00000953576, ENST00000953577, ENST00000953578, ENST00000953579, ENST00000953580, ENST00000953581, ENST00000953582
RefSeq mRNA: 1 — MANE Select: NM_003970
NM_003970
CCDS: CCDS5957
Canonical transcript exons
ENST00000262113 — 37 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000364514 | 2093970 | 2094091 |
| ENSE00000677580 | 2059153 | 2059245 |
| ENSE00000677581 | 2069278 | 2069366 |
| ENSE00000677582 | 2069447 | 2069497 |
| ENSE00000677583 | 2072345 | 2072509 |
| ENSE00000677606 | 2076141 | 2076282 |
| ENSE00000677608 | 2078734 | 2078933 |
| ENSE00000677611 | 2079560 | 2079613 |
| ENSE00000677681 | 2096247 | 2096434 |
| ENSE00000677787 | 2106491 | 2106597 |
| ENSE00000677788 | 2108786 | 2108830 |
| ENSE00000677789 | 2109395 | 2109531 |
| ENSE00001086499 | 2052158 | 2052313 |
| ENSE00001086505 | 2057348 | 2057486 |
| ENSE00001135752 | 2050755 | 2050873 |
| ENSE00001186264 | 2057623 | 2057780 |
| ENSE00001262708 | 2073339 | 2073500 |
| ENSE00001262753 | 2144664 | 2145456 |
| ENSE00001365011 | 2045046 | 2045168 |
| ENSE00003496398 | 2143401 | 2143456 |
| ENSE00003507826 | 2100876 | 2101054 |
| ENSE00003517897 | 2102667 | 2102781 |
| ENSE00003518905 | 2085263 | 2085390 |
| ENSE00003547374 | 2092346 | 2092520 |
| ENSE00003559400 | 2129127 | 2129232 |
| ENSE00003572125 | 2116216 | 2116275 |
| ENSE00003572680 | 2115960 | 2116104 |
| ENSE00003588420 | 2098857 | 2098983 |
| ENSE00003603537 | 2124179 | 2124217 |
| ENSE00003616988 | 2090008 | 2090191 |
| ENSE00003633340 | 2123252 | 2123365 |
| ENSE00003649138 | 2106242 | 2106398 |
| ENSE00003664925 | 2142375 | 2142397 |
| ENSE00003665049 | 2117885 | 2117952 |
| ENSE00003672390 | 2123555 | 2123642 |
| ENSE00003673343 | 2140723 | 2140886 |
| ENSE00003682047 | 2141141 | 2141177 |
Expression profiles
Bgee: expression breadth ubiquitous, 142 present calls, max score 99.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2799 / max 1069.6911, expressed in 1017 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 87208 | 2.8222 | 94 |
| 87215 | 2.3009 | 917 |
| 87209 | 1.0792 | 66 |
| 87213 | 0.6840 | 57 |
| 87216 | 0.1136 | 39 |
| 87217 | 0.1097 | 27 |
| 87214 | 0.0583 | 22 |
| 87212 | 0.0442 | 20 |
| 205033 | 0.0420 | 19 |
| 87211 | 0.0258 | 11 |
Top tissues by expression
142 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.77 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.47 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.37 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.37 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.29 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.11 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.05 | gold quality |
| muscle organ | UBERON:0001630 | 98.12 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 98.12 | gold quality |
| muscle of leg | UBERON:0001383 | 98.08 | gold quality |
| heart | UBERON:0000948 | 96.19 | gold quality |
| granulocyte | CL:0000094 | 94.96 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.80 | gold quality |
| muscle tissue | UBERON:0002385 | 91.49 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.43 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.93 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.65 | gold quality |
| right testis | UBERON:0004534 | 90.45 | gold quality |
| left testis | UBERON:0004533 | 90.32 | gold quality |
| testis | UBERON:0000473 | 90.19 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.76 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.70 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.13 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.92 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.83 | gold quality |
| frontal cortex | UBERON:0001870 | 88.56 | gold quality |
| frontal lobe | UBERON:0016525 | 88.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.28 | gold quality |
| temporal lobe | UBERON:0001871 | 87.30 | gold quality |
| putamen | UBERON:0001874 | 87.21 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.21 |
| E-MTAB-11268 | no | 2197.00 |
| E-ENAD-17 | no | 86.80 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MEF2C, SIM2
miRNA regulators (miRDB)
19 targeting MYOM2, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6833-5P | 99.50 | 68.93 | 1161 |
| HSA-MIR-4774-3P | 98.90 | 67.82 | 737 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-876-5P | 97.99 | 68.49 | 1345 |
| HSA-MIR-4287 | 97.55 | 67.24 | 1247 |
| HSA-MIR-4685-3P | 97.55 | 67.35 | 1255 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
| HSA-MIR-5685 | 97.02 | 64.34 | 1004 |
| HSA-MIR-3167 | 96.81 | 67.09 | 1236 |
| HSA-MIR-137-5P | 94.03 | 60.01 | 43 |
| HSA-MIR-483-5P | 93.53 | 65.81 | 111 |
| HSA-MIR-196B-3P | 85.79 | 67.95 | 91 |
Literature-anchored findings (GeneRIF, showing 3)
- Results identify muscle-type creatine kinase as a binding partner of a central portion of myomesin and the closely related M-protein. (PMID:12972258)
- a direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported. (PMID:23792176)
- Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart. (PMID:33033063)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myom2a | ENSDARG00000075433 |
| danio_rerio | ENSDARG00000110698 | |
| mus_musculus | Myom2 | ENSMUSG00000031461 |
| rattus_norvegicus | Myom2 | ENSRNOG00000011754 |
| drosophila_melanogaster | mtgo | FBGN0259735 |
| caenorhabditis_elegans | WBGENE00007944 |
Paralogs (11): FNDC3B (ENSG00000075420), MYBPC2 (ENSG00000086967), MYOM1 (ENSG00000101605), FNDC3A (ENSG00000102531), OBSL1 (ENSG00000124006), MYBPH (ENSG00000133055), MYBPC3 (ENSG00000134571), MYOM3 (ENSG00000142661), IGSF22 (ENSG00000179057), MYBPC1 (ENSG00000196091), MYBPHL (ENSG00000221986)
Protein
Protein identifiers
Myomesin-2 — P54296 (reviewed: P54296)
Alternative names: 165 kDa connectin-associated protein, 165 kDa titin-associated protein, M-protein, Myomesin family member 2
All UniProt accessions (2): E7EWH9, P54296
UniProt curated annotations — full annotation on UniProt →
Function. Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
Subunit / interactions. Interacts with TTN/titin.
Subcellular location. Cytoplasm. Myofibril. Sarcomere. M line.
RefSeq proteins (1): NP_003961* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050964 | Striated_Muscle_Regulatory | Family |
Pfam: PF00041, PF07679
UniProt features (29 total): sequence variant 11, domain 10, sequence conflict 4, region of interest 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P54296-F1 | 77.47 | 0.26 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 148 (showing top):
GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, MEF2_02, MODULE_329, GOBP_SARCOMERE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_CONTRACTION, MODULE_202, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GNF2_IL2RB, GOBP_MUSCLE_SYSTEM_PROCESS, GOMF_STRUCTURAL_CONSTITUENT_OF_MUSCLE
GO Biological Process (3): extraocular skeletal muscle development (GO:0002074), muscle contraction (GO:0006936), sarcomere organization (GO:0045214)
GO Molecular Function (4): structural constituent of muscle (GO:0008307), kinase binding (GO:0019900), structural molecule activity (GO:0005198), protein binding (GO:0005515)
GO Cellular Component (4): mitochondrion (GO:0005739), M band (GO:0031430), myosin filament (GO:0032982), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| skeletal muscle tissue development | 1 |
| camera-type eye development | 1 |
| skeletal muscle organ development | 1 |
| muscle system process | 1 |
| myofibril assembly | 1 |
| actomyosin structure organization | 1 |
| structural molecule activity | 1 |
| enzyme binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| A band | 1 |
| myosin complex | 1 |
| supramolecular fiber | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2270 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYOM2 | PLG | P00747 | 988 |
| MYOM2 | RIGI | O95786 | 983 |
| MYOM2 | ALB | P02768 | 980 |
| MYOM2 | TRAF3 | Q13114 | 961 |
| MYOM2 | FN1 | P02751 | 958 |
| MYOM2 | TBK1 | Q9UHD2 | 951 |
| MYOM2 | CD46 | P15529 | 948 |
| MYOM2 | IKBKB | O14920 | 915 |
| MYOM2 | TTN | Q8WZ42 | 872 |
| MYOM2 | GP5 | P40197 | 853 |
| MYOM2 | IKBKE | Q14164 | 853 |
| MYOM2 | ERVW-1 | Q9UQF0 | 836 |
| MYOM2 | MAG | P20916 | 813 |
| MYOM2 | MAVS | Q7Z434 | 811 |
| MYOM2 | IFIH1 | Q9BYX4 | 808 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EHMT2 | WIZ | psi-mi:“MI:0914”(association) | 0.730 |
| MYOM2 | DYSF | psi-mi:“MI:2364”(proximity) | 0.450 |
| RYR1 | MYOM2 | psi-mi:“MI:2364”(proximity) | 0.450 |
| ACTN2 | MYOM2 | psi-mi:“MI:2364”(proximity) | 0.450 |
| MYOM2 | TTN | psi-mi:“MI:2364”(proximity) | 0.450 |
| HSPB2 | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PCNA | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATXN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| RSPH6A | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| LATS1 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN33 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| MFGE8 | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS23 | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| FMR1 | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ANKRD1 | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DYSF | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | MYBPC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYBPC2 | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | ACTN2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | JMJD1C | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | MYH7 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | NEB | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | RPS6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYOM2 | RYR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SEC31A | MYOM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (34): MYOM2 (Two-hybrid), MYOM2 (Affinity Capture-MS), MYOM2 (Two-hybrid), MYOM2 (Two-hybrid), MYOM2 (Two-hybrid), SEC31A (Two-hybrid), TNNT1 (Two-hybrid), JMJD1C (Two-hybrid), MYOM2 (Two-hybrid), ACTN2 (Two-hybrid), MYH7 (Two-hybrid), NEB (Two-hybrid), RPS6 (Two-hybrid), RYR1 (Two-hybrid), TAF1 (Two-hybrid)
ESM2 similar proteins: A0A087WV53, A2AAJ9, A2ABU4, A2RUH7, E7F6H7, O00423, O01761, O14576, O54785, O70468, O88485, O88599, P16419, P22607, P26453, P52179, P53670, P53671, P54296, P56741, P70402, Q00872, Q02173, Q05623, Q05BC3, Q0DYP5, Q13203, Q14168, Q14324, Q14896, Q29RQ3, Q32L23, Q4V8C3, Q5FW53, Q5PQM4, Q5VST9, Q5VTT5, Q5XI81, Q5XKE0, Q60992
Diamond homologs: A0A087WV53, A2AAJ9, A2ASS6, A2RUH7, O75147, O94856, O94898, P05548, P52179, P54296, P97685, Q00872, Q23551, Q52KR2, Q5VST9, Q62234, Q80W87, Q810U3, Q8WX93, Q92626, A2ABU4, O88599, P12960, P14781, P28685, P68500, P70402, P97527, P97528, Q02173, Q07409, Q12860, Q13203, Q14896, Q28106, Q2EY15, Q2VWP7, Q2VWP9, Q589G5, Q5PQM4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKACA | down-regulates | MYOM2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 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 |
|---|---|---|---|
| Striated Muscle Contraction | 5 | 73.5× | 1e-06 |
| Muscle contraction | 5 | 18.4× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| sarcomere organization | 5 | 70.9× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
521 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 380 |
| Likely benign | 54 |
| Benign | 62 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5645 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:2045167:GG:G | donor_gain | 1.0000 |
| 8:2045168:GG:G | donor_gain | 1.0000 |
| 8:2050754:GGA:G | acceptor_gain | 1.0000 |
| 8:2050874:G:GG | donor_gain | 1.0000 |
| 8:2057344:GCAG:G | acceptor_loss | 1.0000 |
| 8:2057345:CA:C | acceptor_loss | 1.0000 |
| 8:2057346:A:AG | acceptor_gain | 1.0000 |
| 8:2057347:G:GA | acceptor_loss | 1.0000 |
| 8:2057347:G:GG | acceptor_gain | 1.0000 |
| 8:2057483:GATG:G | donor_gain | 1.0000 |
| 8:2057724:G:GT | donor_gain | 1.0000 |
| 8:2057778:GTG:G | donor_gain | 1.0000 |
| 8:2069364:GAA:G | donor_gain | 1.0000 |
| 8:2069367:G:GG | donor_gain | 1.0000 |
| 8:2072343:A:AG | acceptor_gain | 1.0000 |
| 8:2072344:G:GG | acceptor_gain | 1.0000 |
| 8:2072507:ATGG:A | donor_loss | 1.0000 |
| 8:2072508:TGGTG:T | donor_loss | 1.0000 |
| 8:2072509:GGT:G | donor_loss | 1.0000 |
| 8:2072511:T:A | donor_loss | 1.0000 |
| 8:2073335:TCA:T | acceptor_loss | 1.0000 |
| 8:2073336:CA:C | acceptor_loss | 1.0000 |
| 8:2073337:A:AG | acceptor_gain | 1.0000 |
| 8:2073337:A:AT | acceptor_loss | 1.0000 |
| 8:2073338:G:GG | acceptor_gain | 1.0000 |
| 8:2073338:GAC:G | acceptor_gain | 1.0000 |
| 8:2073498:GAG:G | donor_gain | 1.0000 |
| 8:2073501:G:A | donor_loss | 1.0000 |
| 8:2076132:T:TA | acceptor_gain | 1.0000 |
| 8:2076136:CCAAG:C | acceptor_loss | 1.0000 |
AlphaMissense
9652 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:2057779:T:A | W187R | 0.999 |
| 8:2057779:T:C | W187R | 0.999 |
| 8:2076227:T:A | W403R | 0.999 |
| 8:2076227:T:C | W403R | 0.999 |
| 8:2085337:T:A | W531R | 0.999 |
| 8:2085337:T:C | W531R | 0.999 |
| 8:2090114:G:C | R584P | 0.999 |
| 8:2092411:T:A | W632R | 0.999 |
| 8:2092411:T:C | W632R | 0.999 |
| 8:2096370:G:C | R750P | 0.999 |
| 8:2098891:T:C | F783S | 0.999 |
| 8:2123285:T:A | W1163R | 0.999 |
| 8:2123285:T:C | W1163R | 0.999 |
| 8:2140785:T:C | L1288P | 0.999 |
| 8:2140823:T:G | Y1301D | 0.999 |
| 8:2144715:T:A | W1378R | 0.999 |
| 8:2144715:T:C | W1378R | 0.999 |
| 8:2144829:T:G | Y1416D | 0.999 |
| 8:2144849:T:A | N1422K | 0.999 |
| 8:2144849:T:G | N1422K | 0.999 |
| 8:2059233:T:C | L214P | 0.998 |
| 8:2069303:T:G | Y227D | 0.998 |
| 8:2072497:T:A | W316R | 0.998 |
| 8:2072497:T:C | W316R | 0.998 |
| 8:2078835:T:C | F455S | 0.998 |
| 8:2078838:G:C | R456P | 0.998 |
| 8:2090111:T:C | F583S | 0.998 |
| 8:2092413:G:C | W632C | 0.998 |
| 8:2092413:G:T | W632C | 0.998 |
| 8:2094011:T:C | F682S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000004793 (8:2123907 A>C), RS1000031197 (8:2084752 C>A,T), RS1000041717 (8:2056345 C>G), RS1000104683 (8:2109129 A>G), RS1000158061 (8:2052370 G>C,T), RS1000164179 (8:2116648 T>G), RS1000181852 (8:2064475 C>T), RS1000191810 (8:2068166 C>T), RS1000218966 (8:2053187 A>G), RS1000231558 (8:2139670 G>A), RS1000240801 (8:2056194 A>G), RS1000256028 (8:2135462 A>C), RS1000261661 (8:2077035 G>C), RS1000268515 (8:2110738 C>T), RS1000279573 (8:2052485 T>A,C)
Disease associations
OMIM: gene MIM:603509 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002579_3 | Heschl’s gyrus morphology | 4.000000e-06 |
| GCST002671_9 | Toenail selenium levels | 2.000000e-06 |
| GCST002875_176 | Diisocyanate-induced asthma | 3.000000e-06 |
| GCST007844_12 | Ankylosing spondylitis | 6.000000e-06 |
| GCST009391_1268 | Metabolite levels | 8.000000e-06 |
| GCST009391_1275 | Metabolite levels | 2.000000e-06 |
| GCST009391_1540 | Metabolite levels | 3.000000e-06 |
| GCST009391_479 | Metabolite levels | 4.000000e-06 |
| GCST009391_568 | Metabolite levels | 8.000000e-06 |
| GCST009391_788 | Metabolite levels | 7.000000e-07 |
| GCST009391_876 | Metabolite levels | 3.000000e-06 |
| GCST009391_922 | Metabolite levels | 2.000000e-06 |
| GCST009391_932 | Metabolite levels | 6.000000e-06 |
| GCST009796_1 | Opioid use cessation | 4.000000e-06 |
| GCST012489_33 | Heel bone mineral density x serum urate levels interaction | 4.000000e-08 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0010545 | uridine diphosphate measurement |
| EFO:0010546 | uridine measurement |
| EFO:0010510 | NG-monomethyl-arginine measurement |
| EFO:0010389 | phosphatidylcholine 40:6 measurement |
| EFO:0010498 | hydroxyproline measurement |
| EFO:0010395 | sphingomyelin 22:0 measurement |
| EFO:0010403 | triacylglycerol 48:0 measurement |
| EFO:0010443 | triacylglycerol 58:9 measurement |
| EFO:0010401 | triacylglycerol 46:1 measurement |
| EFO:0009937 | Opioid use measurement |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs17064642 | Efficacy | 3 | aspirin;clopidogrel | Acute coronary syndrome;Major Adverse Cardiac Events (MACE) |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs17064642 | MYOM2 | 3 | 4.00 | 1 | aspirin;clopidogrel |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation, increases mutagenesis, affects methylation | 4 |
| Doxorubicin | decreases expression | 3 |
| Daunorubicin | decreases expression | 2 |
| Mitoxantrone | decreases expression | 2 |
| urushiol | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation, affects cotreatment | 1 |
| quercitrin | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases methylation, increases abundance | 1 |
| sodium arsenite | affects methylation | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Choline | affects expression | 1 |
| Diethylhexyl Phthalate | decreases methylation, increases abundance | 1 |
| Etoposide | decreases expression | 1 |
| Methapyrilene | affects methylation | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Thapsigargin | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
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.