MYL12B
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Also known as MRLC2
Summary
MYL12B (myosin light chain 12B, HGNC:29827) is a protein-coding gene on chromosome 18p11.31, encoding Myosin regulatory light chain 12B (O14950). Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation.
The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).
Source: NCBI Gene 103910 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 10 total
- Druggable target: yes
- MANE Select transcript:
NM_033546
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29827 |
| Approved symbol | MYL12B |
| Name | myosin light chain 12B |
| Location | 18p11.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MRLC2 |
| Ensembl gene | ENSG00000118680 |
| Ensembl biotype | protein_coding |
| OMIM | 609211 |
| Entrez | 103910 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000237500, ENST00000400175, ENST00000581193, ENST00000584539, ENST00000648965, ENST00000874764, ENST00000874765, ENST00000874766, ENST00000918456, ENST00000918457, ENST00000965090
RefSeq mRNA: 3 — MANE Select: NM_033546
NM_001144944, NM_001144945, NM_033546
CCDS: CCDS11831
Canonical transcript exons
ENST00000237500 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000800184 | 3272884 | 3273082 |
| ENSE00001207798 | 3262133 | 3262237 |
| ENSE00001749122 | 3277253 | 3277414 |
| ENSE00003900833 | 3277765 | 3278461 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 329.0447 / max 3722.8457, expressed in 1827 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 169156 | 164.4200 | 1825 |
| 169155 | 163.8591 | 1825 |
| 169158 | 0.2073 | 108 |
| 169154 | 0.1989 | 79 |
| 169159 | 0.1455 | 80 |
| 169160 | 0.1256 | 45 |
| 169157 | 0.0883 | 37 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 99.69 | gold quality |
| pancreatic ductal cell | CL:0002079 | 99.66 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.65 | gold quality |
| gingiva | UBERON:0001828 | 99.64 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.61 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.61 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.59 | gold quality |
| right lung | UBERON:0002167 | 99.57 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.55 | gold quality |
| renal medulla | UBERON:0000362 | 99.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.52 | gold quality |
| squamous epithelium | UBERON:0006914 | 99.51 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 99.49 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.48 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.48 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.48 | gold quality |
| amniotic fluid | UBERON:0000173 | 99.47 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.47 | gold quality |
| mammary duct | UBERON:0001765 | 99.47 | gold quality |
| rectum | UBERON:0001052 | 99.46 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.46 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.46 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.46 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.45 | gold quality |
| placenta | UBERON:0001987 | 99.45 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 99.45 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 99.45 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.45 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.43 | gold quality |
| upper lobe of lung | UBERON:0008948 | 99.43 | gold quality |
Single-cell (SCXA)
Detected in 17 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 2020.50 |
| E-CURD-122 | yes | 45.12 |
| E-HCAD-11 | yes | 39.96 |
| E-MTAB-6701 | yes | 36.95 |
| E-GEOD-81547 | yes | 24.50 |
| E-HCAD-1 | yes | 16.90 |
| E-HCAD-9 | yes | 15.16 |
| E-MTAB-8410 | yes | 15.09 |
| E-MTAB-10042 | yes | 8.40 |
| E-ENAD-27 | yes | 6.37 |
| E-GEOD-130148 | yes | 6.03 |
| E-MTAB-8495 | no | 3070.66 |
| E-GEOD-81383 | no | 1781.44 |
| E-CURD-46 | no | 10.98 |
| E-MTAB-9388 | no | 6.88 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting MYL12B, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-6128 | 99.33 | 67.83 | 1581 |
| HSA-MIR-499A-3P | 99.18 | 69.20 | 1392 |
| HSA-MIR-499B-3P | 99.18 | 69.27 | 1391 |
| HSA-MIR-622 | 98.99 | 66.48 | 1050 |
| HSA-MIR-548AO-5P | 98.55 | 69.57 | 1362 |
| HSA-MIR-548AX | 98.55 | 69.58 | 1362 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-6730-5P | 98.03 | 68.12 | 1299 |
| HSA-MIR-3920 | 97.75 | 69.02 | 1168 |
| HSA-MIR-495-5P | 97.62 | 68.28 | 682 |
| HSA-MIR-937-5P | 97.43 | 68.39 | 667 |
| HSA-MIR-6729-3P | 96.91 | 66.79 | 703 |
| HSA-MIR-5702 | 96.68 | 68.21 | 958 |
| HSA-MIR-8081 | 96.42 | 67.75 | 738 |
| HSA-MIR-5586-5P | 96.29 | 68.02 | 685 |
Literature-anchored findings (GeneRIF, showing 5)
- These results suggest that EGCG inhibits the cell growth by reducing the MRLC phosphorylation and this effect is mediated by the 67LR. (PMID:15946647)
- Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
- The study data show that manipulation of the activation sites (Thr18/Ser19) significantly alters myosin II function in a number of these assays while manipulation of the putative inhibitory sites (Ser1/Ser2/Thr9) does not. (PMID:22136066)
- These results suggest that 2P-MRLC has a role different from that of 1P-MRLC at the midzone, and is not a subunit of myosin II. (PMID:22166199)
- phosphorylated MRLC temporally controls its own accumulation, but not that of actin, in cultured mammalian cells. (PMID:22374324)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myl12.2 | ENSDARG00000025326 |
| mus_musculus | Myl12b | ENSMUSG00000034868 |
| rattus_norvegicus | Myl12b | ENSRNOG00000091388 |
| caenorhabditis_elegans | WBGENE00003369 | |
| caenorhabditis_elegans | WBGENE00003370 |
Paralogs (7): MYL9 (ENSG00000101335), MYL12A (ENSG00000101608), MYL10 (ENSG00000106436), MYL7 (ENSG00000106631), MYL2 (ENSG00000111245), MYL11 (ENSG00000180209), MYL5 (ENSG00000215375)
Protein
Protein identifiers
Myosin regulatory light chain 12B — O14950 (reviewed: O14950)
Alternative names: MLC-2A, Myosin regulatory light chain 2-B, smooth muscle isoform, Myosin regulatory light chain 20 kDa, Myosin regulatory light chain MRLC2, SHUJUN-1
All UniProt accessions (1): O14950
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. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion.
Subunit / interactions. Myosin is a hexamer of 2 heavy chains and 4 light chains: interacts with myosin heavy chain MYO19.
Tissue specificity. Ubiquitously expressed in various hematopoietic cells.
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. Phosphorylation is reduced following epigallocatechin-3-O-gallate treatment.
Miscellaneous. This chain binds calcium.
RefSeq proteins (3): NP_001138416, NP_001138417, NP_291024* (*=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 (19 total): sequence conflict 4, binding site 4, domain 3, modified residue 2, mutagenesis site 2, chain 1, sequence variant 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14950-F1 | 83.78 | 0.60 |
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): 42; 44; 46; 53
Post-translational modifications (2): 19, 20
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 19–20 | shows a decrease in the number of actin filament bundles. |
| 19–20 | shows a larger number of actin filament bundles. |
Function
Pathways and Gene Ontology
Reactome pathways
18 pathways
| ID | Pathway |
|---|---|
| R-HSA-3928663 | EPHA-mediated growth cone collapse |
| R-HSA-416572 | Sema4D induced cell migration and growth-cone collapse |
| R-HSA-445355 | Smooth Muscle Contraction |
| R-HSA-5625740 | RHO GTPases activate PKNs |
| R-HSA-5625900 | RHO GTPases activate CIT |
| R-HSA-5627117 | RHO GTPases Activate ROCKs |
| R-HSA-5627123 | RHO GTPases activate PAKs |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-2682334 | EPH-Ephrin signaling |
| R-HSA-373755 | Semaphorin interactions |
| R-HSA-397014 | Muscle contraction |
| R-HSA-400685 | Sema4D in semaphorin signaling |
| R-HSA-422475 | Axon guidance |
| R-HSA-9675108 | Nervous system development |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 200 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, MODULE_151, MORI_IMMATURE_B_LYMPHOCYTE_UP, KEGG_TIGHT_JUNCTION, RIZKI_TUMOR_INVASIVENESS_3D_DN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, REACTOME_SMOOTH_MUSCLE_CONTRACTION, LAIHO_COLORECTAL_CANCER_SERRATED_UP, MODULE_114, GOBP_REGULATION_OF_CELL_SHAPE, GOCC_I_BAND, GOCC_APICAL_PART_OF_CELL, GOCC_ACTIN_FILAMENT_BUNDLE
GO Biological Process (1): regulation of cell shape (GO:0008360)
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 (12): stress fiber (GO:0001725), cytoplasm (GO:0005737), cytosol (GO:0005829), brush border (GO:0005903), cell cortex (GO:0005938), myosin II complex (GO:0016460), myofibril (GO:0030016), Z disc (GO:0030018), extracellular exosome (GO:0070062), myosin complex (GO:0016459), protein-containing complex (GO:0032991), apical part of cell (GO:0045177)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase Effectors | 4 |
| Axon guidance | 2 |
| EPH-Ephrin signaling | 1 |
| Sema4D in semaphorin signaling | 1 |
| Muscle contraction | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Semaphorin interactions | 1 |
| Nervous system development | 1 |
| Developmental Biology | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| metal ion binding | 1 |
| myosin binding | 1 |
| binding | 1 |
| cation binding | 1 |
| actomyosin | 1 |
| contractile actin filament bundle | 1 |
| intracellular anatomical structure | 1 |
| microvillus | 1 |
| apical part of cell | 1 |
| cluster of actin-based cell projections | 1 |
| cell periphery | 1 |
| myosin complex | 1 |
| contractile muscle fiber | 1 |
| I band | 1 |
| extracellular vesicle | 1 |
| actin cytoskeleton | 1 |
| protein-containing complex | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
2724 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYL12B | CNPY2 | Q9Y2B0 | 827 |
| MYL12B | MYH9 | P35579 | 809 |
| MYL12B | MYOD1 | P15172 | 774 |
| MYL12B | PPP1R12A | O14974 | 756 |
| MYL12B | MYLIP | Q8WY64 | 684 |
| MYL12B | RHOA | P06749 | 671 |
| MYL12B | MYLK3 | Q32MK0 | 657 |
| MYL12B | PPP1R14A | Q96A00 | 639 |
| MYL12B | MYL6 | P16475 | 595 |
| MYL12B | ROCK1 | Q13464 | 568 |
| MYL12B | MYH7 | P12883 | 567 |
| MYL12B | PPP1R12C | Q9BZL4 | 536 |
| MYL12B | ROCK2 | O75116 | 530 |
| MYL12B | XPR1 | Q9UBH6 | 497 |
| MYL12B | MYBPC2 | Q14324 | 495 |
IntAct
98 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| MYH9 | MYL12B | psi-mi:“MI:0914”(association) | 0.640 |
| MYL12B | NSMF | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYL12B | MYH11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACTB | MYL12B | psi-mi:“MI:0915”(physical association) | 0.540 |
| MYL12B | ACTB | psi-mi:“MI:0914”(association) | 0.540 |
| ACTB | MYL12B | psi-mi:“MI:0403”(colocalization) | 0.540 |
| MYO19 | MYL12B | psi-mi:“MI:0914”(association) | 0.530 |
| VCAM1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE3B | MYL12B | psi-mi:“MI:0915”(physical association) | 0.500 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| MYL12B | psi-mi:“MI:0914”(association) | 0.460 | |
| MYL12B | DAPK3 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| MYL12B | ACTA2 | psi-mi:“MI:0403”(colocalization) | 0.430 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| MYL12B | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FOXD3 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| FOXP1 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| Prkaa1 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| Prkab1 | MYL12B | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHA7 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| OCRL | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (173): MYL12B (Affinity Capture-MS), MYL12B (Two-hybrid), MYL12B (Affinity Capture-MS), MYL12B (Affinity Capture-MS), MYL12B (Affinity Capture-MS), MYL12B (Affinity Capture-MS), MYL12B (Affinity Capture-MS), PA2G4 (Affinity Capture-MS), TRAP1 (Affinity Capture-MS), SND1 (Affinity Capture-MS), CPSF6 (Affinity Capture-MS), UBE2N (Affinity Capture-MS), MYL12B (Affinity Capture-MS), MYL12B (Affinity Capture-MS), MYL12B (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
10 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ILK | “up-regulates activity” | MYL12B | phosphorylation |
| MAP3K12 | up-regulates | MYL12B | phosphorylation |
| DAPK3 | up-regulates | MYL12B | phosphorylation |
| ROCK2 | “up-regulates activity” | MYL12B | phosphorylation |
| PAK1 | “up-regulates activity” | MYL12B | phosphorylation |
| ROCK1 | up-regulates | MYL12B | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 100 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 |
|---|---|---|---|
| Oncogenic MAPK signaling | 5 | 20.0× | 1e-03 |
| Signaling by BRAF and RAF1 fusions | 6 | 16.5× | 9e-04 |
| Activation of STAT3 by cadherin engagement | 5 | 13.2× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 5 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
564 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:3262139:G:GT | donor_gain | 1.0000 |
| 18:3272877:A:AG | acceptor_gain | 1.0000 |
| 18:3272878:A:G | acceptor_gain | 1.0000 |
| 18:3272879:TCCAG:T | acceptor_loss | 1.0000 |
| 18:3272882:A:AC | acceptor_loss | 1.0000 |
| 18:3272882:A:AG | acceptor_gain | 1.0000 |
| 18:3272883:G:GG | acceptor_gain | 1.0000 |
| 18:3272883:GA:G | acceptor_gain | 1.0000 |
| 18:3272883:GAA:G | acceptor_gain | 1.0000 |
| 18:3272883:GAAT:G | acceptor_gain | 1.0000 |
| 18:3272883:GAATT:G | acceptor_gain | 1.0000 |
| 18:3273052:G:T | donor_gain | 1.0000 |
| 18:3273052:GAAGA:G | donor_gain | 1.0000 |
| 18:3273053:A:T | donor_gain | 1.0000 |
| 18:3273065:A:G | donor_gain | 1.0000 |
| 18:3277244:T:G | acceptor_gain | 1.0000 |
| 18:3277249:ACAG:A | acceptor_gain | 1.0000 |
| 18:3277250:C:G | acceptor_gain | 1.0000 |
| 18:3277250:CA:C | acceptor_loss | 1.0000 |
| 18:3277251:A:AG | acceptor_gain | 1.0000 |
| 18:3277251:A:AT | acceptor_loss | 1.0000 |
| 18:3277251:AG:A | acceptor_gain | 1.0000 |
| 18:3277251:AGG:A | acceptor_gain | 1.0000 |
| 18:3277252:G:GC | acceptor_gain | 1.0000 |
| 18:3277252:GG:G | acceptor_gain | 1.0000 |
| 18:3277252:GGG:G | acceptor_gain | 1.0000 |
| 18:3277252:GGGA:G | acceptor_gain | 1.0000 |
| 18:3277252:GGGAA:G | acceptor_gain | 1.0000 |
| 18:3277410:AACAG:A | donor_gain | 1.0000 |
| 18:3277411:ACAG:A | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000145143 (18:3275045 C>T), RS1000271933 (18:3263728 TCTTC>T), RS1000451010 (18:3269261 G>T), RS1000699477 (18:3273798 G>A,T), RS1000737064 (18:3269472 A>G), RS1000897054 (18:3274828 T>C), RS1001017278 (18:3267263 T>G), RS1001191559 (18:3270527 C>G), RS1001219292 (18:3262263 G>C), RS1001319257 (18:3270800 A>T), RS1001343964 (18:3268155 A>G), RS1001471215 (18:3267471 A>G), RS1001795086 (18:3268466 A>T), RS1002133871 (18:3264471 A>G), RS1002233309 (18:3260787 C>T)
Disease associations
OMIM: gene MIM:609211 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002408_15 | Response to methotrexate in juvenile idiopathic arthritis | 5.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295652 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression | 4 |
| Valproic Acid | increases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Dronabinol | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| moringin | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tetrabromobisphenol A | decreases 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 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cannabidiol | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Bucladesine | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Methotrexate | 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 |
|---|---|---|---|
| CHEMBL4118949 | Binding | Binding affinity to MYL12B in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
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): juvenile idiopathic arthritis