MYL12A
gene geneOn this page
Also known as MLCBMYL2BMRLC3MRCL3
Summary
MYL12A (myosin light chain 12A, HGNC:16701) is a protein-coding gene on chromosome 18p11.31, encoding Myosin regulatory light chain 12A (P19105). Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation.
This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.
Source: NCBI Gene 10627 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 23 total — 1 pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_006471
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16701 |
| Approved symbol | MYL12A |
| Name | myosin light chain 12A |
| Location | 18p11.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MLCB, MYL2B, MRLC3, MRCL3 |
| Ensembl gene | ENSG00000101608 |
| Ensembl biotype | protein_coding |
| Entrez | 10627 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 35 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000217652, ENST00000536605, ENST00000577510, ENST00000578038, ENST00000578562, ENST00000578611, ENST00000579226, ENST00000580353, ENST00000580887, ENST00000583449, ENST00000585090, ENST00000608786, ENST00000855660, ENST00000855661, ENST00000855662, ENST00000855663, ENST00000855664, ENST00000855665, ENST00000855666, ENST00000855667, ENST00000855668, ENST00000855669, ENST00000855670, ENST00000922826, ENST00000922827, ENST00000922828, ENST00000922829, ENST00000922830, ENST00000922831, ENST00000922832, ENST00000922833, ENST00000964506, ENST00000964507, ENST00000964508, ENST00000964509, ENST00000964510, ENST00000964511, ENST00000964512, ENST00000964513, ENST00000964514
RefSeq mRNA: 4 — MANE Select: NM_006471
NM_001303047, NM_001303048, NM_001303049, NM_006471
CCDS: CCDS11830, CCDS77145
Canonical transcript exons
ENST00000217652 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001162437 | 3255746 | 3256236 |
| ENSE00002721572 | 3247801 | 3247909 |
| ENSE00003571508 | 3253233 | 3253428 |
| ENSE00003785328 | 3253889 | 3254050 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 99.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 501.5171 / max 11678.2123, expressed in 1828 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 169139 | 482.8562 | 1828 |
| 169146 | 9.4203 | 198 |
| 169138 | 4.9669 | 1653 |
| 169143 | 1.5669 | 204 |
| 169137 | 0.9891 | 429 |
| 169145 | 0.6600 | 130 |
| 169149 | 0.4626 | 230 |
| 169144 | 0.2361 | 97 |
| 169140 | 0.1020 | 28 |
| 169151 | 0.0970 | 19 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.81 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.73 | gold quality |
| monocyte | CL:0000576 | 99.66 | gold quality |
| leukocyte | CL:0000738 | 99.66 | gold quality |
| granulocyte | CL:0000094 | 99.64 | gold quality |
| right lung | UBERON:0002167 | 99.64 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 99.58 | gold quality |
| right coronary artery | UBERON:0001625 | 99.57 | gold quality |
| ascending aorta | UBERON:0001496 | 99.54 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.54 | gold quality |
| endometrium epithelium | UBERON:0004811 | 99.53 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.53 | gold quality |
| left coronary artery | UBERON:0001626 | 99.52 | gold quality |
| rectum | UBERON:0001052 | 99.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.51 | gold quality |
| gall bladder | UBERON:0002110 | 99.51 | gold quality |
| popliteal artery | UBERON:0002250 | 99.48 | gold quality |
| tibial artery | UBERON:0007610 | 99.48 | gold quality |
| vermiform appendix | UBERON:0001154 | 99.44 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.43 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.42 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.42 | gold quality |
| muscle of leg | UBERON:0001383 | 99.40 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.36 | gold quality |
| left uterine tube | UBERON:0001303 | 99.35 | gold quality |
| tibial nerve | UBERON:0001323 | 99.33 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.32 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.31 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 99.30 | gold quality |
Single-cell (SCXA)
Detected in 33 experiment(s), a significant marker in 25.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8498 | yes | 6189.22 |
| E-MTAB-10662 | yes | 2811.11 |
| E-GEOD-111727 | yes | 2315.88 |
| E-HCAD-1 | yes | 125.58 |
| E-HCAD-4 | yes | 96.29 |
| E-CURD-122 | yes | 54.33 |
| E-HCAD-6 | yes | 48.12 |
| E-HCAD-11 | yes | 46.23 |
| E-MTAB-6701 | yes | 42.80 |
| E-CURD-46 | yes | 41.45 |
| E-HCAD-10 | yes | 37.81 |
| E-HCAD-31 | yes | 26.76 |
| E-HCAD-9 | yes | 25.42 |
| E-GEOD-81547 | yes | 24.81 |
| E-MTAB-8410 | yes | 24.47 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting MYL12A, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-320A-3P | 99.77 | 69.73 | 2107 |
| HSA-MIR-320B | 99.77 | 69.73 | 2107 |
| HSA-MIR-320C | 99.77 | 69.73 | 2107 |
| HSA-MIR-320D | 99.77 | 69.73 | 2107 |
| HSA-MIR-4429 | 99.77 | 69.62 | 2111 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-29A-5P | 99.08 | 68.59 | 1813 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-622 | 98.99 | 66.48 | 1050 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myl12.2 | ENSDARG00000025326 |
| mus_musculus | Myl12a | ENSMUSG00000024048 |
| rattus_norvegicus | Myl12a | ENSRNOG00000015278 |
| caenorhabditis_elegans | WBGENE00003369 | |
| caenorhabditis_elegans | WBGENE00003370 |
Paralogs (7): MYL9 (ENSG00000101335), MYL10 (ENSG00000106436), MYL7 (ENSG00000106631), MYL2 (ENSG00000111245), MYL12B (ENSG00000118680), MYL11 (ENSG00000180209), MYL5 (ENSG00000215375)
Protein
Protein identifiers
Myosin regulatory light chain 12A — P19105 (reviewed: P19105)
Alternative names: Epididymis secretory protein Li 24, MLC-2B, Myosin RLC, Myosin regulatory light chain 2, nonsarcomeric, Myosin regulatory light chain MRLC3
All UniProt accessions (4): P19105, J3KT92, J3KTJ1, J3QRS3
UniProt curated annotations — full annotation on UniProt →
Function. Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.
Subunit / interactions. Myosin is a hexamer of 2 heavy chains and 4 light chains.
Post-translational modifications. Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge.
Miscellaneous. This chain binds calcium.
RefSeq proteins (4): NP_001289976, NP_001289977, NP_001289978, NP_006462* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR015070 | EF_hand_DJBP | Domain |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR050403 | Myosin_RLC | Family |
Pfam: PF08976, PF13499
UniProt features (10 total): binding site 4, domain 3, modified residue 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P19105-F1 | 83.59 | 0.58 |
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 (4): 41; 43; 45; 52
Post-translational modifications (2): 18, 19
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-3928664 | Ephrin signaling |
| R-HSA-445355 | Smooth Muscle Contraction |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-2682334 | EPH-Ephrin signaling |
| R-HSA-397014 | Muscle contraction |
| R-HSA-422475 | Axon guidance |
| R-HSA-9675108 | Nervous system development |
MSigDB gene sets: 201 (showing top):
BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, MODULE_255, BASSO_B_LYMPHOCYTE_NETWORK, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_PLATELET_ACTIVATION, MODULE_317, KEGG_TIGHT_JUNCTION, HEIDENBLAD_AMPLICON_8Q24_DN, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, NELSON_RESPONSE_TO_ANDROGEN_UP, SCHLOSSER_SERUM_RESPONSE_DN, REACTOME_SMOOTH_MUSCLE_CONTRACTION, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GOBP_HOMOTYPIC_CELL_CELL_ADHESION
GO Biological Process (1): platelet aggregation (GO:0070527)
GO Molecular Function (4): calcium ion binding (GO:0005509), myosin heavy chain binding (GO:0032036), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), myosin II complex (GO:0016460), extracellular exosome (GO:0070062), myosin complex (GO:0016459)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| EPH-Ephrin signaling | 1 |
| Muscle contraction | 1 |
| Axon guidance | 1 |
| Nervous system development | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| platelet activation | 1 |
| homotypic cell-cell adhesion | 1 |
| metal ion binding | 1 |
| myosin binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| myosin complex | 1 |
| extracellular vesicle | 1 |
| actin cytoskeleton | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2220 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYL12A | MYLK2 | Q9H1R3 | 910 |
| MYL12A | MYBPC3 | Q14896 | 714 |
| MYL12A | MYBPC2 | Q14324 | 662 |
| MYL12A | MYLK | Q15746 | 596 |
| MYL12A | TNNI1 | P19237 | 566 |
| MYL12A | MYL6 | P16475 | 541 |
| MYL12A | MYL3 | P08590 | 537 |
| MYL12A | MYL6B | P14649 | 521 |
| MYL12A | MYH10 | P35580 | 519 |
| MYL12A | ACTC1 | P04270 | 505 |
| MYL12A | MYH9 | P35579 | 495 |
| MYL12A | ITGB1 | P05556 | 469 |
| MYL12A | CLUL1 | Q15846 | 419 |
| MYL12A | RASD2 | Q96D21 | 414 |
| MYL12A | MYLK3 | Q32MK0 | 412 |
IntAct
123 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| YWHAZ | LMNA | psi-mi:“MI:0914”(association) | 0.560 |
| LIN9 | MYBL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ESR2 | psi-mi:“MI:0914”(association) | 0.500 | |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| FOS | MYO1C | psi-mi:“MI:2364”(proximity) | 0.480 |
| AP3D1 | psi-mi:“MI:0914”(association) | 0.460 | |
| MYL12B | psi-mi:“MI:0914”(association) | 0.460 | |
| CDC42BPA | MYL12A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| Cdc42bpa | MYL12A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| Rock2 | MYL12A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| CIT | MYL12A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| Cdc42bpb | MYL12A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| MYLK | MYL12A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| PAK1 | MYL12A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| ACTB | DDX3X | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (241): MYL12A (Affinity Capture-MS), MYL12A (Two-hybrid), MYL12A (Reconstituted Complex), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS), MYL12A (Affinity Capture-MS)
ESM2 similar proteins: A0A125YHX7, A0A125YZN2, A4IF97, J9W034, O14950, O23184, O74435, O82659, P02612, P08733, P13832, P15845, P18666, P19105, P24032, P24844, P29269, P40423, P41208, P41209, P41210, P41691, P48593, P53441, Q09510, Q0IQB6, Q0IUU4, Q12798, Q24956, Q27177, Q27178, Q27179, Q2TBN3, Q32LE3, Q338P8, Q39584, Q3SEK0, Q3SEK2, Q3THE2, Q40642
Diamond homologs: A2WN93, A2WNH1, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4IF97, A4UHC0, A8CEP3, A8I1Q0, B7SNI3, F1SSF9, O14950, O93409, O94739, P02597, P02598, P02608, P02609, P02610, P02611, P02612, P02613, P04112, P04113, P04353, P04464, P04466, P05419, P05944, P05963, P07461, P08051, P08052, P08733, P0DH95, P0DH96, P10916, P11120, P13543
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DAPK1 | “up-regulates activity” | MYL12A | phosphorylation |
| ROCK1 | “up-regulates activity” | MYL12A | phosphorylation |
| PAK2 | “up-regulates activity” | MYL12A | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 115 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 |
|---|---|---|---|
| FCERI mediated MAPK activation | 5 | 20.4× | 3e-03 |
| Smooth Muscle Contraction | 5 | 15.6× | 3e-03 |
| Regulation of actin dynamics for phagocytic cup formation | 5 | 10.8× | 1e-02 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| amyloid fibril formation | 5 | 31.7× | 2e-04 |
| canonical NF-kappaB signal transduction | 5 | 19.3× | 1e-03 |
| Ras protein signal transduction | 7 | 15.1× | 2e-04 |
| actin cytoskeleton organization | 9 | 7.5× | 8e-04 |
| positive regulation of canonical NF-kappaB signal transduction | 9 | 6.9× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
23 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1703622 | GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) | Pathogenic |
SpliceAI
539 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:3253227:A:AG | acceptor_gain | 1.0000 |
| 18:3253228:A:G | acceptor_gain | 1.0000 |
| 18:3253228:ATTAG:A | acceptor_gain | 1.0000 |
| 18:3253229:TTA:T | acceptor_loss | 1.0000 |
| 18:3253230:TAG:T | acceptor_loss | 1.0000 |
| 18:3253231:A:AG | acceptor_gain | 1.0000 |
| 18:3253231:AG:A | acceptor_gain | 1.0000 |
| 18:3253232:G:A | acceptor_gain | 1.0000 |
| 18:3253232:G:C | acceptor_loss | 1.0000 |
| 18:3253232:G:GA | acceptor_gain | 1.0000 |
| 18:3253232:GGA:G | acceptor_gain | 1.0000 |
| 18:3253232:GGAC:G | acceptor_gain | 1.0000 |
| 18:3253232:GGACT:G | acceptor_gain | 1.0000 |
| 18:3253398:G:GT | donor_gain | 1.0000 |
| 18:3253398:G:T | donor_gain | 1.0000 |
| 18:3253399:A:T | donor_gain | 1.0000 |
| 18:3253402:A:G | donor_gain | 1.0000 |
| 18:3253411:A:G | donor_gain | 1.0000 |
| 18:3253427:GG:G | donor_gain | 1.0000 |
| 18:3253428:GG:G | donor_gain | 1.0000 |
| 18:3253428:GGTAA:G | donor_loss | 1.0000 |
| 18:3253429:G:GG | donor_gain | 1.0000 |
| 18:3253429:GTA:G | donor_loss | 1.0000 |
| 18:3253430:T:G | donor_loss | 1.0000 |
| 18:3253879:A:AG | acceptor_gain | 1.0000 |
| 18:3253880:A:AG | acceptor_gain | 1.0000 |
| 18:3253881:A:G | acceptor_gain | 1.0000 |
| 18:3253882:A:AG | acceptor_gain | 1.0000 |
| 18:3253883:A:AG | acceptor_gain | 1.0000 |
| 18:3253884:T:G | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000044815 (18:3248054 C>T), RS1000096580 (18:3248301 G>A), RS1000577876 (18:3250888 G>C), RS1000630252 (18:3251099 G>A), RS1000691116 (18:3250616 A>G), RS1000918107 (18:3245989 T>A,C), RS1001394576 (18:3253907 A>G), RS1001582910 (18:3249750 A>G), RS1001630486 (18:3249898 AAAAT>A), RS1001763333 (18:3255886 C>T), RS1002001990 (18:3252298 A>G), RS1002065364 (18:3251125 A>C,G), RS1002215781 (18:3256289 C>T), RS1002351392 (18:3252131 A>G), RS1002387233 (18:3247165 T>C)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:609628, MIM:146390
GenCC curated gene-disease
Mondo (2): Majeed syndrome (MONDO:0012316), chromosome 18p deletion syndrome (MONDO:0007800)
Orphanet (3): Majeed syndrome (Orphanet:77297), Monosomy 18p syndrome (Orphanet:1598), Partial deletion of the short arm of chromosome 18 syndrome (Orphanet:261974)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_27 | Night sleep phenotypes | 9.000000e-06 |
| GCST003598_51 | QRS duration | 3.000000e-07 |
| GCST003598_52 | QRS duration | 5.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007827 | nighttime rest measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C538309 | Chromosome 18p deletion syndrome (supp.) | |
| C537839 | Majeed syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724627 (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
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.35 | IC50 | 4480 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 7 total; 1 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 |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178785: Inhibition of MRCL3 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 4.4800 | uM |
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 3 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 3 |
| Valproic Acid | increases expression | 3 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cadmium | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Curcumin | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Bucladesine | affects cotreatment, decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697515 | Binding | Inhibition of MRCL3 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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): chromosome 18p deletion syndrome, Majeed syndrome