RBM12B
geneOn this page
Summary
RBM12B (RNA binding motif protein 12B, HGNC:32310) is a protein-coding gene on chromosome 8q22.1, encoding RNA-binding protein 12B (Q8IXT5).
Enables RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm.
Source: NCBI Gene 389677 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 165 total
- Druggable target: yes
- MANE Select transcript:
NM_001377960
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32310 |
| Approved symbol | RBM12B |
| Name | RNA binding motif protein 12B |
| Location | 8q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000183808 |
| Ensembl biotype | protein_coding |
| Entrez | 389677 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 25 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000399300, ENST00000517700, ENST00000518597, ENST00000519109, ENST00000520560, ENST00000520961, ENST00000891584, ENST00000891585, ENST00000891586, ENST00000891587, ENST00000891588, ENST00000891589, ENST00000891590, ENST00000891591, ENST00000891592, ENST00000891593, ENST00000932408, ENST00000932409, ENST00000932410, ENST00000932411, ENST00000932412, ENST00000932413, ENST00000932414, ENST00000932415, ENST00000963705, ENST00000963706
RefSeq mRNA: 6 — MANE Select: NM_001377960
NM_001377960, NM_001377961, NM_001377962, NM_001377963, NM_001377964, NM_203390
CCDS: CCDS43755
Canonical transcript exons
ENST00000520560 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001537396 | 93728155 | 93736438 |
| ENSE00001537397 | 93737307 | 93737355 |
| ENSE00002096289 | 93740629 | 93740696 |
| ENSE00002111316 | 93740881 | 93741009 |
Expression profiles
Bgee: expression breadth ubiquitous, 271 present calls, max score 91.94.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.0040 / max 618.1161, expressed in 1806 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 93968 | 9.9478 | 1709 |
| 93969 | 8.5200 | 1755 |
| 93965 | 2.1936 | 1093 |
| 93970 | 1.0358 | 609 |
| 93967 | 0.8393 | 495 |
| 93966 | 0.4674 | 251 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 91.94 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.82 | gold quality |
| caput epididymis | UBERON:0004358 | 88.90 | gold quality |
| corpus epididymis | UBERON:0004359 | 88.76 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.78 | gold quality |
| tendon | UBERON:0000043 | 86.93 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.48 | gold quality |
| cauda epididymis | UBERON:0004360 | 86.46 | gold quality |
| ventricular zone | UBERON:0003053 | 85.98 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.98 | gold quality |
| cortical plate | UBERON:0005343 | 84.94 | gold quality |
| endothelial cell | CL:0000115 | 84.80 | gold quality |
| superficial temporal artery | UBERON:0001614 | 84.69 | gold quality |
| ovary | UBERON:0000992 | 84.63 | gold quality |
| left ovary | UBERON:0002119 | 84.63 | gold quality |
| sural nerve | UBERON:0015488 | 84.08 | gold quality |
| lymph node | UBERON:0000029 | 83.90 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.44 | gold quality |
| endometrium | UBERON:0001295 | 83.21 | gold quality |
| right ovary | UBERON:0002118 | 82.85 | gold quality |
| corpus callosum | UBERON:0002336 | 82.31 | gold quality |
| rectum | UBERON:0001052 | 81.93 | gold quality |
| body of uterus | UBERON:0009853 | 81.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.77 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.74 | gold quality |
| embryo | UBERON:0000922 | 81.56 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.44 | gold quality |
| endocervix | UBERON:0000458 | 81.05 | gold quality |
| mammary duct | UBERON:0001765 | 80.58 | gold quality |
| leukocyte | CL:0000738 | 80.54 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.69 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
133 targeting RBM12B, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rbm12ba | ENSDARG00000055889 |
| danio_rerio | rbm12bb | ENSDARG00000079717 |
| mus_musculus | Rbm12b1 | ENSMUSG00000046667 |
| mus_musculus | Rbm12b2 | ENSMUSG00000052137 |
| rattus_norvegicus | Rbm12b | ENSRNOG00000016330 |
| rattus_norvegicus | LOC120102832 | ENSRNOG00000055292 |
| drosophila_melanogaster | fus | FBGN0023441 |
| drosophila_melanogaster | glo | FBGN0259139 |
| caenorhabditis_elegans | WBGENE00006367 | |
| caenorhabditis_elegans | rbm-12 | WBGENE00013703 |
| caenorhabditis_elegans | WBGENE00022253 |
Paralogs (8): HNRNPH3 (ENSG00000096746), ESRP2 (ENSG00000103067), ESRP1 (ENSG00000104413), HNRNPH2 (ENSG00000126945), GRSF1 (ENSG00000132463), HNRNPH1 (ENSG00000169045), HNRNPF (ENSG00000169813), RBM12 (ENSG00000244462)
Protein
Protein identifiers
RNA-binding protein 12B — Q8IXT5 (reviewed: Q8IXT5)
Alternative names: RNA-binding motif protein 12B
All UniProt accessions (5): B9ZVT1, E5RHG1, E5RJ83, E5RJV8, Q8IXT5
RefSeq proteins (6): NP_001364889, NP_001364890, NP_001364891, NP_001364892, NP_001364893, NP_976324 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034588 | RBM12B_RRM2 | Domain |
| IPR034858 | RBM12B_RRM3 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR047188 | RRM4_RBM12B | Domain |
| IPR050666 | ESRP | Family |
Pfam: PF00076
UniProt features (40 total): modified residue 18, cross-link 6, domain 4, compositionally biased region 4, region of interest 4, sequence variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IXT5-F1 | 56.09 | 0.11 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (24): 98, 101, 112, 250, 254, 276, 278, 280, 292, 294, 319, 377, 575, 591, 638, 640, 710, 718, 114, 151 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 77 (showing top):
PATIL_LIVER_CANCER, GOBP_RNA_SPLICING, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, chr8q22, GTGACTT_MIR224, GOBP_REGULATION_OF_RNA_SPLICING, TGGAAA_NFAT_Q4_01, GOCC_RIBONUCLEOPROTEIN_COMPLEX, MMEF2_Q6, STEIN_ESRRA_TARGETS_RESPONSIVE_TO_ESTROGEN_UP, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_7, STAT6_01, DURAND_STROMA_NS_UP, ZWANG_EGF_INTERVAL_UP, FOXN3_TARGET_GENES
GO Biological Process (1): regulation of RNA splicing (GO:0043484)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (2): nucleoplasm (GO:0005654), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| nucleic acid binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1158 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RBM12B | TSKS | Q9UJT2 | 590 |
| RBM12B | TRABD | Q9H4I3 | 504 |
| RBM12B | TBC1D22A | Q8WUA7 | 491 |
| RBM12B | YLPM1 | P49750 | 473 |
| RBM12B | THAP2 | Q9H0W7 | 446 |
| RBM12B | SLCO6A1 | Q86UG4 | 418 |
| RBM12B | C6orf120 | Q7Z4R8 | 373 |
| RBM12B | TMEM68 | Q96MH6 | 371 |
| RBM12B | ZNF253 | O75346 | 366 |
| RBM12B | MTCL1 | Q9Y4B5 | 358 |
| RBM12B | ASB12 | Q8WXK4 | 352 |
| RBM12B | C11orf96 | Q7Z7L8 | 348 |
| RBM12B | NHLRC3 | Q5JS37 | 340 |
| RBM12B | COPS7B | Q9H9Q2 | 340 |
| RBM12B | DAD1 | P46966 | 329 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HNRNPH2 | PLOD2 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM12B | CACNA1A | psi-mi:“MI:0915”(physical association) | 0.510 |
| RBMX | RBM12B | psi-mi:“MI:0915”(physical association) | 0.400 |
| Racgap1 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| Taf15 | BTBD10 | psi-mi:“MI:0914”(association) | 0.350 |
| Ctnnbl1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MATR3 | BCLAF3 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| Slain1 | OARD1 | psi-mi:“MI:0914”(association) | 0.350 |
| Hnrnpa3 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| Fus | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1CC | CLIC1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1CB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Srsf1 | SRRM1 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| AURKB | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAP1LC3A | psi-mi:“MI:0914”(association) | 0.350 | |
| CASP8 | CCN1 | psi-mi:“MI:0914”(association) | 0.350 |
| RB1 | ZNF593 | psi-mi:“MI:0914”(association) | 0.350 |
| SHANK3 | IGKV3D-15 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| RBM12B | RNF40 | psi-mi:“MI:0914”(association) | 0.350 |
| POMGNT2 | FAM83G | psi-mi:“MI:0914”(association) | 0.350 |
| SF3B1 | RBM10 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF3 | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| GATA2 | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| CTNNA1 | EFCAB5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (101): RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Proximity Label-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS), RBM12B (Affinity Capture-MS)
ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A0A1D9BZF0, A0A494C071, A6NDE4, A6NEQ0, A6QL64, A8MQ14, B3KS81, E9Q6E9, O77733, P05995, P0C7P1, P0C8Z4, P0DJD3, P0DJD4, P0DKJ7, P0DKJ8, P0DKL2, P0DPF3, P11088, P18751, P18753, P20930, P97347, Q15415, Q2VIS4, Q3BBV2, Q42626, Q5D862, Q5HY64, Q5JPF3, Q5U7M9, Q6JHY2, Q6P3W6, Q6XPR3, Q86T75, Q86VE3, Q86YZ3, Q8IXT5
Diamond homologs: A1L1G1, A8WPC5, B2RYD2, B2RYJ8, O35737, P31942, P31943, P52597, P55795, P70333, Q12849, Q22708, Q3SZF3, Q3US41, Q5E9J1, Q5RD26, Q5RFT7, Q60HC3, Q6AY09, Q6DEZ7, Q6NXG1, Q794E4, Q7ZY29, Q8C5Q4, Q8IXT5, Q8K0G8, Q8R3C6, Q8VHV7, Q9Y4C8, Q9Z2X1, Q15020, Q5REG1, Q5ZLR4, Q5RBM8, Q66JV4, Q80YR9, Q8R4X3, Q8SQ27, Q9NTZ6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 66 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 |
|---|---|---|---|
| mRNA 3’-end processing | 5 | 25.2× | 8e-05 |
| mRNA Polyadenylation | 10 | 22.5× | 4e-09 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 5 | 19.5× | 2e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 9 | 19.0× | 7e-08 |
| mRNA Splicing | 6 | 16.9× | 8e-05 |
| mRNA Splicing - Major Pathway | 11 | 15.4× | 1e-08 |
| Dengue Virus-Host Interactions | 10 | 11.7× | 6e-07 |
| Metabolism of RNA | 6 | 6.4× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of alternative mRNA splicing, via spliceosome | 5 | 23.5× | 2e-04 |
| mRNA splicing, via spliceosome | 11 | 19.4× | 4e-09 |
| RNA splicing | 9 | 15.3× | 2e-06 |
| mRNA processing | 8 | 12.1× | 5e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 150 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1022 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:93737351:CTTAA:C | acceptor_gain | 1.0000 |
| 8:93737352:TTAA:T | acceptor_gain | 1.0000 |
| 8:93737356:C:CC | acceptor_gain | 1.0000 |
| 8:93728203:A:AG | acceptor_gain | 0.9900 |
| 8:93728204:G:GG | acceptor_gain | 0.9900 |
| 8:93728204:GGT:G | acceptor_gain | 0.9900 |
| 8:93737353:TAA:T | acceptor_gain | 0.9900 |
| 8:93740861:A:AC | donor_gain | 0.9900 |
| 8:93740862:C:CC | donor_gain | 0.9900 |
| 8:93740878:CACCA:C | donor_gain | 0.9900 |
| 8:93740880:CCA:C | donor_gain | 0.9900 |
| 8:93733728:TGCC:T | donor_gain | 0.9800 |
| 8:93738823:CA:C | donor_gain | 0.9700 |
| 8:93740880:C:CT | donor_gain | 0.9700 |
| 8:93736369:C:T | acceptor_gain | 0.9600 |
| 8:93740900:A:T | donor_gain | 0.9600 |
| 8:93728201:A:G | acceptor_gain | 0.9500 |
| 8:93733727:TTGC:T | donor_gain | 0.9500 |
| 8:93736435:TGACC:T | acceptor_loss | 0.9500 |
| 8:93736436:GACC:G | acceptor_loss | 0.9500 |
| 8:93736439:C:CA | acceptor_loss | 0.9500 |
| 8:93736440:T:G | acceptor_loss | 0.9500 |
| 8:93737305:ACC:A | acceptor_loss | 0.9500 |
| 8:93737355:AC:A | acceptor_loss | 0.9500 |
| 8:93737356:C:G | acceptor_loss | 0.9500 |
| 8:93737357:T:A | acceptor_loss | 0.9500 |
| 8:93740624:TATAC:T | donor_loss | 0.9500 |
| 8:93740625:ATAC:A | donor_loss | 0.9500 |
| 8:93740626:TA:T | donor_loss | 0.9500 |
| 8:93740627:ACC:A | donor_loss | 0.9500 |
AlphaMissense
785 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:93736245:C:G | A56P | 0.997 |
| 8:93736244:G:T | A56D | 0.996 |
| 8:93736270:A:C | F47L | 0.996 |
| 8:93736270:A:T | F47L | 0.996 |
| 8:93736272:A:G | F47L | 0.996 |
| 8:93736284:C:G | A43P | 0.996 |
| 8:93736254:C:G | A53P | 0.995 |
| 8:93736271:A:G | F47S | 0.995 |
| 8:93736279:A:C | F44L | 0.995 |
| 8:93736279:A:T | F44L | 0.995 |
| 8:93736281:A:G | F44L | 0.995 |
| 8:93736394:C:G | R6P | 0.995 |
| 8:93736189:A:C | S74R | 0.994 |
| 8:93736189:A:T | S74R | 0.994 |
| 8:93736191:T:G | S74R | 0.994 |
| 8:93736199:A:G | L71P | 0.994 |
| 8:93736382:A:G | L10P | 0.994 |
| 8:93736253:G:T | A53E | 0.993 |
| 8:93736328:A:T | I28N | 0.991 |
| 8:93736343:A:G | F23S | 0.991 |
| 8:93736352:C:G | R20P | 0.991 |
| 8:93736400:A:T | V4D | 0.991 |
| 8:93736249:T:A | R54S | 0.990 |
| 8:93736249:T:G | R54S | 0.990 |
| 8:93736391:A:G | L7S | 0.990 |
| 8:93736247:C:G | R55P | 0.989 |
| 8:93736328:A:C | I28S | 0.989 |
| 8:93736271:A:C | F47C | 0.988 |
| 8:93736277:A:T | I45N | 0.988 |
| 8:93736283:G:T | A43D | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000012792 (8:93731513 A>C), RS1000019856 (8:93739968 A>G), RS1000154700 (8:93733051 GAA>G,GA,GAAA), RS1000218085 (8:93734570 G>A,C), RS1000436730 (8:93741060 A>C,G), RS1001468709 (8:93738763 G>GT), RS1001712613 (8:93742414 C>G,T), RS1001845687 (8:93736422 A>G), RS1001888276 (8:93736084 A>C), RS1002118153 (8:93729516 T>C), RS1002164814 (8:93742072 T>C), RS1002256822 (8:93732875 G>GT), RS1002509829 (8:93739629 C>G,T), RS1002656135 (8:93731099 G>A), RS1002786082 (8:93732633 T>C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): myoepithelial tumor (MONDO:0002380)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009208 | Myoepithelioma | C04.557.435.585 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6196110 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation | 4 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Rotenone | decreases expression | 2 |
| Cadmium Chloride | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | affects phosphorylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| fatostatin | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, 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 |
|---|---|---|---|
| CHEMBL6096343 | Binding | Binding affinity to RBM12B at C204 residue in human MDA-MB-231 cells at 1 uM incubated for 3 hrs in presence of IAA by proteome-wide scale isoTOP ABPP method | Covalent Inhibitors of KEAP1 with Exquisite Selectivity. — J Med Chem |
Clinical trials (associated diseases)
5 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03600649 | PHASE1 | UNKNOWN | Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas |
| NCT05266196 | PHASE1/PHASE2 | UNKNOWN | A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577) |
| NCT06239272 | PHASE1/PHASE2 | RECRUITING | NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS) |
| NCT06625190 | PHASE1/PHASE2 | RECRUITING | Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors |
| NCT06244420 | Not specified | COMPLETED | Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myoepithelial tumor