MYO1G
geneOn this page
Also known as HA-2
Summary
MYO1G (myosin IG, HGNC:13880) is a protein-coding gene on chromosome 7p13, encoding Unconventional myosin-Ig (B0I1T2). Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T-cell migration.
MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).
Source: NCBI Gene 64005 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 192 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_033054
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13880 |
| Approved symbol | MYO1G |
| Name | myosin IG |
| Location | 7p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HA-2 |
| Ensembl gene | ENSG00000136286 |
| Ensembl biotype | protein_coding |
| OMIM | 600642 |
| Entrez | 64005 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 8 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000258787, ENST00000463516, ENST00000464434, ENST00000480503, ENST00000483585, ENST00000488554, ENST00000495831, ENST00000648014, ENST00000891370, ENST00000891371, ENST00000946563, ENST00000946564, ENST00000946565, ENST00000946566
RefSeq mRNA: 1 — MANE Select: NM_033054
NM_033054
CCDS: CCDS34629
Canonical transcript exons
ENST00000258787 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001923703 | 44978867 | 44979015 |
| ENSE00003461267 | 44970592 | 44970737 |
| ENSE00003475465 | 44969413 | 44969483 |
| ENSE00003481729 | 44971673 | 44971789 |
| ENSE00003498126 | 44962662 | 44962895 |
| ENSE00003505209 | 44966073 | 44966280 |
| ENSE00003518527 | 44970835 | 44971059 |
| ENSE00003521761 | 44964945 | 44965089 |
| ENSE00003525411 | 44969705 | 44969875 |
| ENSE00003537834 | 44976863 | 44977071 |
| ENSE00003547153 | 44972115 | 44972225 |
| ENSE00003548582 | 44976564 | 44976657 |
| ENSE00003562407 | 44964049 | 44964162 |
| ENSE00003583127 | 44962970 | 44963124 |
| ENSE00003595736 | 44964415 | 44964519 |
| ENSE00003623958 | 44975174 | 44975227 |
| ENSE00003653492 | 44965637 | 44965860 |
| ENSE00003657454 | 44970040 | 44970154 |
| ENSE00003666438 | 44967605 | 44967737 |
| ENSE00003669681 | 44975484 | 44975649 |
| ENSE00003692760 | 44966672 | 44966838 |
| ENSE00003693813 | 44967884 | 44967958 |
Expression profiles
Bgee: expression breadth ubiquitous, 203 present calls, max score 98.77.
FANTOM5 (CAGE): breadth broad, TPM avg 25.0962 / max 654.4557, expressed in 524 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 83913 | 14.0072 | 443 |
| 83914 | 7.9140 | 467 |
| 83912 | 2.4557 | 297 |
| 83910 | 0.2265 | 83 |
| 83915 | 0.1838 | 113 |
| 83908 | 0.1782 | 109 |
| 83911 | 0.0761 | 40 |
| 83909 | 0.0547 | 31 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.77 | gold quality |
| monocyte | CL:0000576 | 97.51 | gold quality |
| leukocyte | CL:0000738 | 97.51 | gold quality |
| thymus | UBERON:0002370 | 97.44 | gold quality |
| blood | UBERON:0000178 | 94.89 | gold quality |
| lymph node | UBERON:0000029 | 91.85 | gold quality |
| caecum | UBERON:0001153 | 91.74 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.67 | gold quality |
| spleen | UBERON:0002106 | 91.46 | gold quality |
| pylorus | UBERON:0001166 | 91.31 | gold quality |
| bone marrow cell | CL:0002092 | 91.01 | gold quality |
| cardia of stomach | UBERON:0001162 | 90.86 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.76 | gold quality |
| trachea | UBERON:0003126 | 90.22 | gold quality |
| bone marrow | UBERON:0002371 | 89.75 | gold quality |
| nipple | UBERON:0002030 | 89.49 | gold quality |
| vena cava | UBERON:0004087 | 89.38 | silver quality |
| superior surface of tongue | UBERON:0007371 | 88.67 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 88.14 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.70 | gold quality |
| pericardium | UBERON:0002407 | 87.44 | silver quality |
| tongue | UBERON:0001723 | 86.88 | silver quality |
| body of tongue | UBERON:0011876 | 86.49 | silver quality |
| ileal mucosa | UBERON:0000331 | 86.44 | gold quality |
| pancreatic ductal cell | CL:0002079 | 85.90 | silver quality |
| subthalamic nucleus | UBERON:0001906 | 85.52 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 85.31 | gold quality |
| ventral tegmental area | UBERON:0002691 | 85.24 | silver quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 85.20 | silver quality |
| upper lobe of lung | UBERON:0008948 | 84.84 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 93.09 |
| E-ANND-3 | yes | 17.12 |
| E-MTAB-7606 | no | 880.61 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 6)
- Myosin 1G is an abundant class I myosin in lymphocytes whose localization at the plasma membrane depends on its ancient divergent pleckstrin homology (PH) domain (PMID:20071333)
- the information on allele and genotype frequencies of HA-1 and HA-2 in a Taiwanese population (PMID:20509834)
- gene polymorphism does not have any significant effect on the occurrence of GVHD in Tunisia (PMID:20653428)
- Maternal-smoking sensitive CpG sites in newborns were significantly associated with rs61087368 SNP located proximal to MYO1G. (PMID:27403598)
- Detection of Myosin 1g Overexpression in Pediatric Leukemia by Novel Monoclonal Antibodies. (PMID:35409272)
- Activation of MYO1G by lncRNA MNX1-AS1 Drives the Progression in Lung Cancer. (PMID:35819746)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myo1g | ENSDARG00000036104 |
| mus_musculus | Myo1g | ENSMUSG00000020437 |
| rattus_norvegicus | Myo1g | ENSRNOG00000059140 |
| drosophila_melanogaster | Myo31DF | FBGN0086347 |
| caenorhabditis_elegans | WBGENE00002038 |
Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)
Protein
Protein identifiers
Unconventional myosin-Ig — B0I1T2 (reviewed: B0I1T2)
All UniProt accessions (4): A0A3B3IU30, B0I1T2, F8WAS7, F8WEW9
UniProt curated annotations — full annotation on UniProt →
Function. Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T-cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B-cells, where it regulates different membrane/cytoskeleton-dependent processes. Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis. Constitutes the minor histocompatibility antigen HA-2. More generally, minor histocompatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and their expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation from HLA-identical sibling donor. GVHD is a frequent complication after bone marrow transplantation (BMT), due to mismatch of minor histocompatibility antigen in HLA-matched sibling marrow transplants. HA-2 is restricted to MHC class I HLA-A*0201.
Subunit / interactions. Interacts with calmodulin; via its IQ motifs.
Subcellular location. Cell membrane. Cell projection. Phagocytic cup.
Tissue specificity. Specifically expressed in hematopoietic cells.
Domain organisation. The myosin tail domain mediates binding to phosphatidylinositol-3,4-bisphosphate (PtdIns(3,4)P2), phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) and binds to membranous compartments. It is required for recruitment to Fc-gamma receptor (Fc-gamma-R) phagocytic cups.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| B0I1T2-1 | 1 | yes |
| B0I1T2-2 | 2 | |
| B0I1T2-3 | 3 | |
| B0I1T2-4 | 4 |
RefSeq proteins (1): NP_149043* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001609 | Myosin_head_motor_dom-like | Domain |
| IPR010926 | Myosin_TH1 | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036072 | MYSc_Myo1 | Domain |
| IPR036961 | Kinesin_motor_dom_sf | Homologous_superfamily |
Pfam: PF00063, PF06017
UniProt features (33 total): mutagenesis site 14, splice variant 5, sequence variant 4, domain 3, sequence conflict 2, chain 1, peptide 1, region of interest 1, binding site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-B0I1T2-F1 | 88.42 | 0.56 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 102–109
Post-translational modifications (1): 1
Mutagenesis-validated functional residues (14):
| Position | Phenotype |
|---|---|
| 815 | reduced membrane association. |
| 826 | reduced membrane association. |
| 876 | no effect on membrane localization. |
| 880 | no effect on membrane localization. |
| 883 | no effect on membrane localization; when associated with r-885. |
| 885 | no effect on membrane localization; when associated with k-883. |
| 898 | reduced membrane association. |
| 903 | no effect on membrane localization; when associated with r-906. |
| 906 | no effect on membrane localization; when associated with r-903. |
| 909 | no effect on membrane localization. |
| 934 | no effect on membrane localization. |
| 945 | no effect on membrane localization. |
| 947 | no effect on membrane localization. |
| 953 | no effect on membrane localization. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (14): T cell mediated immunity (GO:0002456), exocytosis (GO:0006887), endocytosis (GO:0006897), actin filament organization (GO:0007015), actin filament-based movement (GO:0030048), cell-substrate adhesion (GO:0031589), Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096), establishment of localization in cell (GO:0051649), cell gliding (GO:0071976), T cell migration (GO:0072678), T cell meandering migration (GO:0120117), adaptive immune response (GO:0002250), immune system process (GO:0002376), phagocytosis (GO:0006909)
GO Molecular Function (11): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), lipid binding (GO:0008289)
GO Cellular Component (13): phagocytic cup (GO:0001891), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), plasma membrane (GO:0005886), microvillus (GO:0005902), actin cytoskeleton (GO:0015629), membrane (GO:0016020), myosin complex (GO:0016459), lamellipodium (GO:0030027), filopodium (GO:0030175), leading edge membrane (GO:0031256), extracellular exosome (GO:0070062), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| vesicle-mediated transport | 2 |
| phosphatidylinositol phosphate binding | 2 |
| phosphatidylinositol bisphosphate binding | 2 |
| plasma membrane | 2 |
| actin-based cell projection | 2 |
| cell leading edge | 2 |
| lymphocyte mediated immunity | 1 |
| adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| import into cell | 1 |
| actin cytoskeleton organization | 1 |
| supramolecular fiber organization | 1 |
| actin filament-based process | 1 |
| cell adhesion | 1 |
| Fc receptor mediated stimulatory signaling pathway | 1 |
| phagocytosis | 1 |
| Fc-gamma receptor signaling pathway | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| cell motility | 1 |
| lymphocyte migration | 1 |
| T cell migration | 1 |
| immune response | 1 |
| biological_process | 1 |
| endocytosis | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| ATP-dependent activity | 1 |
| protein binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
Protein interactions and networks
STRING
1112 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYO1G | HLA-A | P01891 | 749 |
| MYO1G | CENPM | Q9NSP4 | 720 |
| MYO1G | ARHGAP45 | Q92619 | 692 |
| MYO1G | D6RE68 | D6RE68 | 632 |
| MYO1G | H2AZ2 | Q71UI9 | 623 |
| MYO1G | F2RL3 | Q96RI0 | 606 |
| MYO1G | GFI1 | Q99684 | 597 |
| MYO1G | AHRR | A9YTQ3 | 596 |
| MYO1G | KRT35 | Q92764 | 595 |
| MYO1G | HMHB1 | O97980 | 571 |
| MYO1G | ATP9A | O75110 | 526 |
| MYO1G | CNTNAP2 | Q9UHC6 | 523 |
| MYO1G | FRMD4A | Q9P2Q2 | 511 |
| MYO1G | CYP1A1 | P04798 | 506 |
| MYO1G | A2M | P01023 | 505 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| CD177 | MYO1G | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| NXT2 | MYO1G | psi-mi:“MI:0914”(association) | 0.350 |
| ATF3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CASP3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CTNNA1 | MYO1G | psi-mi:“MI:0914”(association) | 0.350 |
| FOS | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CTNNA1 | EFCAB5 | psi-mi:“MI:0914”(association) | 0.350 |
| FOS | MYO1G | psi-mi:“MI:0914”(association) | 0.350 |
| TFRC | MYO1G | psi-mi:“MI:0403”(colocalization) | 0.350 |
| CD247 | DDX1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYO1G | ACTB | psi-mi:“MI:0403”(colocalization) | 0.270 |
| MYO1G | hemB | psi-mi:“MI:0915”(physical association) | 0.000 |
| napF | MYO1G | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): MYO1G (Affinity Capture-MS), MYO1G (Affinity Capture-MS), MYO1G (Affinity Capture-MS), MYO1G (Affinity Capture-MS), MYO1G (Affinity Capture-MS), MYO1G (Proximity Label-MS), MYO1G (Affinity Capture-MS), MYO1G (Affinity Capture-MS), MYO1G (Affinity Capture-MS), MYO1G (Affinity Capture-RNA), MYO1G (Affinity Capture-MS), RALA (Co-fractionation), TFRC (Co-fractionation), MYO1G (Affinity Capture-MS)
ESM2 similar proteins: A0MP03, A2AQP0, A5PF48, A7E2Y1, B0I1T2, D3ZJP6, E7F9L8, F1PRN2, F4IUG9, F4JM19, F8VQB6, O00159, O88329, O94832, P08799, P10568, P79114, P91443, P97479, Q01989, Q03479, Q0WPU1, Q13402, Q17LW0, Q17R14, Q1EG27, Q23978, Q23979, Q27966, Q29P71, Q5SUA5, Q5SYD0, Q5ZLA6, Q5ZMC2, Q622K8, Q63355, Q63357, Q6GPA1, Q6PIF6, Q8K3H5
Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A5PF48, A6SED8, A6ZMG6, A6ZZJ1, A7EK16, A7TDZ8, A8N2Y6, A8PWF6, B0CRJ3, B0I1T2, B0Y9Q4, D3ZJP6, E7F9L8, E9Q634, F1PRN2, F4HWY6, F4I5Q6, F4IUG9, F4IVR7, F4JM19, F4K5J1, K7U9N8, O00159, O00160, O43795, O88329, O94832, P0CP00, P0CP01, P10568, P10569, P19706
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
192 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 168 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3830 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:44962965:CTCA:C | donor_loss | 1.0000 |
| 7:44962966:TCA:T | donor_loss | 1.0000 |
| 7:44962967:CACCC:C | donor_loss | 1.0000 |
| 7:44962968:AC:A | donor_gain | 1.0000 |
| 7:44962968:ACC:A | donor_gain | 1.0000 |
| 7:44962968:ACCCC:A | donor_loss | 1.0000 |
| 7:44962969:CC:C | donor_gain | 1.0000 |
| 7:44962969:CCC:C | donor_gain | 1.0000 |
| 7:44963121:TCAC:T | acceptor_gain | 1.0000 |
| 7:44963122:CAC:C | acceptor_gain | 1.0000 |
| 7:44963122:CACC:C | acceptor_gain | 1.0000 |
| 7:44963123:AC:A | acceptor_gain | 1.0000 |
| 7:44963123:ACCT:A | acceptor_loss | 1.0000 |
| 7:44963124:CC:C | acceptor_gain | 1.0000 |
| 7:44963124:CCTG:C | acceptor_loss | 1.0000 |
| 7:44964044:CTCA:C | donor_loss | 1.0000 |
| 7:44964045:TCA:T | donor_loss | 1.0000 |
| 7:44964047:A:AC | donor_gain | 1.0000 |
| 7:44964048:C:CC | donor_gain | 1.0000 |
| 7:44964048:CCG:C | donor_gain | 1.0000 |
| 7:44964939:ACTTA:A | donor_loss | 1.0000 |
| 7:44964940:CTTA:C | donor_loss | 1.0000 |
| 7:44964943:A:AC | donor_gain | 1.0000 |
| 7:44964944:C:CT | donor_gain | 1.0000 |
| 7:44964944:CA:C | donor_gain | 1.0000 |
| 7:44964944:CAGA:C | donor_gain | 1.0000 |
| 7:44965086:CCAC:C | acceptor_gain | 1.0000 |
| 7:44965087:CAC:C | acceptor_gain | 1.0000 |
| 7:44965087:CACC:C | acceptor_gain | 1.0000 |
| 7:44965090:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
6656 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:44966818:G:C | C601W | 1.000 |
| 7:44970612:G:C | F399L | 1.000 |
| 7:44970612:G:T | F399L | 1.000 |
| 7:44970614:A:G | F399L | 1.000 |
| 7:44970625:T:A | D395V | 1.000 |
| 7:44970625:T:G | D395A | 1.000 |
| 7:44975562:A:C | F162L | 1.000 |
| 7:44975562:A:T | F162L | 1.000 |
| 7:44975564:A:G | F162L | 1.000 |
| 7:44967957:A:C | Y526D | 0.999 |
| 7:44970116:A:G | L419P | 0.999 |
| 7:44970122:T:A | E417V | 0.999 |
| 7:44970124:G:C | N416K | 0.999 |
| 7:44970124:G:T | N416K | 0.999 |
| 7:44970127:G:C | C415W | 0.999 |
| 7:44970133:G:C | N413K | 0.999 |
| 7:44970133:G:T | N413K | 0.999 |
| 7:44970616:C:T | G398D | 0.999 |
| 7:44970617:C:G | G398R | 0.999 |
| 7:44970624:G:C | D395E | 0.999 |
| 7:44970624:G:T | D395E | 0.999 |
| 7:44970625:T:C | D395G | 0.999 |
| 7:44970626:C:G | D395H | 0.999 |
| 7:44970628:A:G | L394P | 0.999 |
| 7:44975189:G:C | F201L | 0.999 |
| 7:44975189:G:T | F201L | 0.999 |
| 7:44975191:A:G | F201L | 0.999 |
| 7:44975560:C:T | G163D | 0.999 |
| 7:44975567:G:T | R161S | 0.999 |
| 7:44975568:G:C | S160R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000136151 (7:44962433 GA>G), RS1000273935 (7:44974444 C>A,T), RS1000654347 (7:44967387 C>G,T), RS1000796542 (7:44980143 A>G), RS1000835092 (7:44963683 G>C), RS1000881819 (7:44968421 C>G), RS1001552666 (7:44980038 G>A,T), RS1001583675 (7:44979746 G>A), RS1001698038 (7:44973772 A>G), RS1002222526 (7:44968928 G>A), RS1002224491 (7:44972411 T>C), RS1002233646 (7:44974086 C>T), RS1002272536 (7:44965822 C>A,T), RS1002391502 (7:44963211 C>A,G,T), RS1002397803 (7:44978512 A>G)
Disease associations
OMIM: gene MIM:600642 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004608_90 | Granulocyte percentage of myeloid white cells | 2.000000e-09 |
| GCST004609_31 | Monocyte percentage of white cells | 7.000000e-15 |
| GCST004610_159 | White blood cell count | 4.000000e-20 |
| GCST004613_109 | Sum neutrophil eosinophil counts | 3.000000e-11 |
| GCST004614_101 | Granulocyte count | 3.000000e-11 |
| GCST004620_74 | Sum basophil neutrophil counts | 4.000000e-11 |
| GCST004626_103 | Myeloid white cell count | 3.000000e-10 |
| GCST004627_40 | Lymphocyte count | 2.000000e-23 |
| GCST004629_115 | Neutrophil count | 4.000000e-11 |
| GCST005024_13 | Pursuit maintenance gain | 3.000000e-06 |
| GCST007158_3 | Refractive astigmatism | 6.000000e-06 |
| GCST007856_14 | Colorectal cancer or advanced adenoma | 6.000000e-06 |
| GCST90002379_148 | Basophil count | 4.000000e-09 |
| GCST90002388_388 | Lymphocyte count | 3.000000e-50 |
| GCST90002394_194 | Monocyte percentage of white cells | 1.000000e-30 |
| GCST90002398_426 | Neutrophil count | 4.000000e-18 |
| GCST90002407_549 | White blood cell count | 3.000000e-37 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0004587 | lymphocyte count |
| EFO:0008433 | pursuit maintenance gain measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724621 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.66 | Kd | 2.174 | nM | CHEMBL3752910 |
| 8.66 | ED50 | 2.174 | nM | CHEMBL3752910 |
| 6.80 | IC50 | 160 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 8 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149894: Binding affinity to human MYO1G incubated for 45 mins by Kinobead based pull down assay | kd | 0.0022 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179026: Inhibition of MYO1G (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.1600 | uM |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 4 |
| Tobacco Smoke Pollution | increases methylation | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cotinine | affects methylation | 1 |
| Diuron | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Nickel | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652936 | Binding | Binding affinity to human MYO1G 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): colorectal adenoma