YLPM1
gene geneOn this page
Also known as ZAPPPP1R169
Summary
YLPM1 (YLP motif containing 1, HGNC:17798) is a protein-coding gene on chromosome 14q24.3, encoding YLP motif-containing protein 1 (P49750). Plays a role in the reduction of telomerase activity during differentiation of embryonic stem cells by binding to the core promoter of TERT and controlling its down-regulation.
Enables RNA binding activity. Predicted to be involved in regulation of telomere maintenance. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nuclear speck.
Source: NCBI Gene 56252 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 396 total
- MANE Select transcript:
NM_019589
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17798 |
| Approved symbol | YLPM1 |
| Name | YLP motif containing 1 |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZAP, PPP1R169 |
| Ensembl gene | ENSG00000119596 |
| Ensembl biotype | protein_coding |
| OMIM | 619766 |
| Entrez | 56252 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000325680, ENST00000546901, ENST00000547879, ENST00000549197, ENST00000549293, ENST00000550021, ENST00000552421, ENST00000553381, ENST00000554107, ENST00000930604
RefSeq mRNA: 2 — MANE Select: NM_019589
NM_001411052, NM_019589
CCDS: CCDS45135, CCDS91906
Canonical transcript exons
ENST00000325680 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000808228 | 74778447 | 74778683 |
| ENSE00000808232 | 74802556 | 74802676 |
| ENSE00000808234 | 74809910 | 74810002 |
| ENSE00000808235 | 74810225 | 74810420 |
| ENSE00000808237 | 74812628 | 74812782 |
| ENSE00000808238 | 74816203 | 74816265 |
| ENSE00000808240 | 74816931 | 74817107 |
| ENSE00000808241 | 74817194 | 74817277 |
| ENSE00000941151 | 74797580 | 74799697 |
| ENSE00000941152 | 74809380 | 74809797 |
| ENSE00001196204 | 74816571 | 74816690 |
| ENSE00001196249 | 74811620 | 74811738 |
| ENSE00001598597 | 74780405 | 74780584 |
| ENSE00001669522 | 74781334 | 74782325 |
| ENSE00003503487 | 74835265 | 74835447 |
| ENSE00003600427 | 74829213 | 74829343 |
| ENSE00003614894 | 74824256 | 74824307 |
| ENSE00003701536 | 74818231 | 74818314 |
| ENSE00003701614 | 74821057 | 74821137 |
| ENSE00003717512 | 74835775 | 74837318 |
| ENSE00003848055 | 74763316 | 74764362 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 96.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.0216 / max 434.1932, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140580 | 39.8582 | 1816 |
| 140579 | 0.7700 | 442 |
| 140584 | 0.3933 | 164 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 96.47 | gold quality |
| cortical plate | UBERON:0005343 | 96.34 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.95 | gold quality |
| sural nerve | UBERON:0015488 | 95.90 | gold quality |
| sperm | CL:0000019 | 95.62 | gold quality |
| ventricular zone | UBERON:0003053 | 95.60 | gold quality |
| right uterine tube | UBERON:0001302 | 95.44 | gold quality |
| male germ cell | CL:0000015 | 95.39 | gold quality |
| left ovary | UBERON:0002119 | 95.31 | gold quality |
| right ovary | UBERON:0002118 | 95.17 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.76 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.71 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.53 | gold quality |
| tibial nerve | UBERON:0001323 | 94.29 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.27 | gold quality |
| body of uterus | UBERON:0009853 | 94.18 | gold quality |
| endocervix | UBERON:0000458 | 94.14 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.09 | gold quality |
| globus pallidus | UBERON:0001875 | 94.02 | gold quality |
| corpus callosum | UBERON:0002336 | 94.02 | gold quality |
| tendon | UBERON:0000043 | 94.00 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.94 | gold quality |
| ovary | UBERON:0000992 | 93.94 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.87 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.81 | gold quality |
| embryo | UBERON:0000922 | 93.79 | gold quality |
| endothelial cell | CL:0000115 | 93.71 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.62 | gold quality |
| ectocervix | UBERON:0012249 | 93.47 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.25 |
| E-MTAB-9801 | yes | 5.79 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
104 targeting YLPM1, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 1)
- ZAP3 is a putative nucleoside kinase that targets protein phosphatase-1 through its highly conserved carboxy-terminal RVRW sequence. (PMID:17890166)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ylpm1 | ENSDARG00000043680 |
| mus_musculus | Ylpm1 | ENSMUSG00000021244 |
| rattus_norvegicus | Ylpm1 | ENSRNOG00000027317 |
| drosophila_melanogaster | ZAP3 | FBGN0052685 |
Protein
Protein identifiers
YLP motif-containing protein 1 — P49750 (reviewed: P49750)
Alternative names: Nuclear protein ZAP3, ZAP113
All UniProt accessions (5): P49750, F8VU51, H0YI23, H0YIQ2, U3KQT9
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the reduction of telomerase activity during differentiation of embryonic stem cells by binding to the core promoter of TERT and controlling its down-regulation.
Subunit / interactions. Interacts with PPP1CA and NCOA5. Forms a complex with ILF2, ILF3, KHDRBS1, RBMX, NCOA5 and PPP1CA.
Subcellular location. Nucleus. Nucleus speckle.
Tissue specificity. Expressed in neuronal, neuroblastoma and embryonic kidney cell lines (at protein level).
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P49750-4 | 4 | yes |
| P49750-3 | 3 | |
| P49750-1 | 1 |
RefSeq proteins (2): NP_001397981, NP_062535* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026314 | YLP_motif_con_p1 | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR058903 | Spectrin_YLPM1-like | Domain |
Pfam: PF13671, PF26583
UniProt features (73 total): compositionally biased region 41, region of interest 8, modified residue 8, cross-link 7, sequence conflict 5, splice variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P49750-F1 | 43.79 | 0.02 |
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 (15): 735, 756, 814, 829, 831, 1100, 1119, 1402, 891, 983, 983, 1053, 1053, 1652, 1710
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, BROWNE_HCMV_INFECTION_6HR_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_TELOMERE_ORGANIZATION, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, chr14q24, BROWNE_HCMV_INFECTION_24HR_DN, GOBP_REGULATION_OF_CHROMOSOME_ORGANIZATION, MARKEY_RB1_ACUTE_LOF_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MARSON_BOUND_BY_E2F4_UNSTIMULATED
GO Biological Process (1): regulation of telomere maintenance (GO:0032204)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| telomere maintenance | 1 |
| regulation of chromosome organization | 1 |
| regulation of DNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
1054 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| YLPM1 | RBMX | P38159 | 581 |
| YLPM1 | ZNF318 | Q5VUA4 | 557 |
| YLPM1 | AREL1 | O15033 | 548 |
| YLPM1 | PROX2 | Q3B8N5 | 521 |
| YLPM1 | BPIFB2 | Q8N4F0 | 486 |
| YLPM1 | DVL3 | Q92997 | 485 |
| YLPM1 | RBM12B | Q8IXT5 | 473 |
| YLPM1 | KHDRBS1 | Q07666 | 469 |
| YLPM1 | RAPH1 | Q70E73 | 468 |
| YLPM1 | GPHN | Q9NQX3 | 462 |
| YLPM1 | WDR3 | Q9UNX4 | 441 |
| YLPM1 | RPS6KL1 | Q9Y6S9 | 437 |
| YLPM1 | VRTN | Q9H8Y1 | 430 |
| YLPM1 | LUC7L3 | O95232 | 427 |
| YLPM1 | HEATR1 | Q9H583 | 425 |
IntAct
137 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP1CB | CCDC85C | psi-mi:“MI:0914”(association) | 0.750 |
| PPP1CB | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.750 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.740 |
| PPP1CC | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.740 |
| PPP1CA | YLPM1 | psi-mi:“MI:0915”(physical association) | 0.690 |
| PPP1CA | CCDC85C | psi-mi:“MI:0914”(association) | 0.670 |
| PPP1CA | CCDC85C | psi-mi:“MI:2364”(proximity) | 0.670 |
| MAGEE1 | MCC | psi-mi:“MI:0914”(association) | 0.670 |
| NCK2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.640 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| NCKIPSD | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
| HNRNPD | HNRNPDL | psi-mi:“MI:0914”(association) | 0.560 |
| YLPM1 | PPP1CC | psi-mi:“MI:0915”(physical association) | 0.550 |
| PCGF1 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| NAGK | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
| ZFC3H1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.530 |
| NONO | YLPM1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| YLPM1 | CACNA1A | psi-mi:“MI:0915”(physical association) | 0.510 |
| CACNA1A | YLPM1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| SRGAP2 | YLPM1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (223): YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), SMARCC1 (Co-fractionation), SMARCC2 (Co-fractionation), YLPM1 (Co-fractionation), YLPM1 (Proximity Label-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS), YLPM1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0
Diamond homologs: P0CB49, P49750, Q9R0I7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 171 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 Polyadenylation | 23 | 16.4× | 2e-19 |
| Dengue Virus Genome Translation and Replication | 5 | 12.9× | 3e-03 |
| mRNA Splicing - Minor Pathway | 7 | 12.7× | 1e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 19 | 12.7× | 9e-14 |
| mRNA Splicing - Major Pathway | 27 | 12.0× | 2e-19 |
| mRNA Splicing | 13 | 11.6× | 1e-08 |
| RHOU GTPase cycle | 5 | 11.3× | 5e-03 |
| mRNA 3’-end processing | 7 | 11.2× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 6 | 29.8× | 8e-06 |
| U2-type prespliceosome assembly | 5 | 20.3× | 5e-04 |
| mRNA splicing, via spliceosome | 23 | 13.7× | 8e-17 |
| autophagosome maturation | 6 | 13.7× | 5e-04 |
| regulation of circadian rhythm | 8 | 13.5× | 2e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 8 | 12.7× | 3e-05 |
| mitophagy | 6 | 12.4× | 8e-04 |
| RNA processing | 7 | 9.9× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
396 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 343 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3125 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:74778439:T:A | acceptor_gain | 1.0000 |
| 14:74778443:GTA:G | acceptor_loss | 1.0000 |
| 14:74778445:A:AG | acceptor_gain | 1.0000 |
| 14:74778445:A:C | acceptor_loss | 1.0000 |
| 14:74778445:AG:A | acceptor_gain | 1.0000 |
| 14:74778446:G:GG | acceptor_gain | 1.0000 |
| 14:74778446:GG:G | acceptor_gain | 1.0000 |
| 14:74778446:GGA:G | acceptor_gain | 1.0000 |
| 14:74778648:G:GT | donor_gain | 1.0000 |
| 14:74778681:CAGG:C | donor_loss | 1.0000 |
| 14:74778682:AGGT:A | donor_loss | 1.0000 |
| 14:74778684:G:GA | donor_loss | 1.0000 |
| 14:74778685:T:G | donor_loss | 1.0000 |
| 14:74780397:A:AG | acceptor_gain | 1.0000 |
| 14:74780398:T:G | acceptor_gain | 1.0000 |
| 14:74780400:TTTA:T | acceptor_loss | 1.0000 |
| 14:74780400:TTTAG:T | acceptor_gain | 1.0000 |
| 14:74780401:TTAGT:T | acceptor_gain | 1.0000 |
| 14:74780402:TAG:T | acceptor_gain | 1.0000 |
| 14:74780403:A:AG | acceptor_gain | 1.0000 |
| 14:74780403:A:T | acceptor_loss | 1.0000 |
| 14:74780403:AG:A | acceptor_gain | 1.0000 |
| 14:74780403:AGTCT:A | acceptor_gain | 1.0000 |
| 14:74780404:G:GG | acceptor_gain | 1.0000 |
| 14:74780404:G:T | acceptor_gain | 1.0000 |
| 14:74780404:GT:G | acceptor_gain | 1.0000 |
| 14:74780404:GTC:G | acceptor_gain | 1.0000 |
| 14:74780404:GTCT:G | acceptor_gain | 1.0000 |
| 14:74780404:GTCTG:G | acceptor_gain | 1.0000 |
| 14:74780405:TCTG:T | acceptor_gain | 1.0000 |
AlphaMissense
13992 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:74763680:T:C | L64P | 1.000 |
| 14:74799640:T:A | L1448H | 1.000 |
| 14:74799655:A:C | H1453P | 1.000 |
| 14:74799661:T:G | I1455S | 1.000 |
| 14:74799664:T:A | I1456N | 1.000 |
| 14:74799664:T:C | I1456T | 1.000 |
| 14:74799664:T:G | I1456S | 1.000 |
| 14:74799667:T:C | L1457S | 1.000 |
| 14:74799672:G:C | A1459P | 1.000 |
| 14:74799673:C:A | A1459D | 1.000 |
| 14:74799675:G:C | A1460P | 1.000 |
| 14:74799685:T:C | L1463P | 1.000 |
| 14:74799697:G:C | R1467P | 1.000 |
| 14:74816207:T:A | V1836D | 1.000 |
| 14:74816210:T:A | V1837D | 1.000 |
| 14:74816213:T:A | I1838K | 1.000 |
| 14:74816213:T:G | I1838R | 1.000 |
| 14:74816221:G:A | G1841R | 1.000 |
| 14:74816221:G:C | G1841R | 1.000 |
| 14:74816222:G:A | G1841E | 1.000 |
| 14:74816222:G:T | G1841V | 1.000 |
| 14:74816230:G:C | G1844R | 1.000 |
| 14:74816231:G:A | G1844D | 1.000 |
| 14:74816237:G:A | G1846E | 1.000 |
| 14:74816249:T:A | V1850D | 1.000 |
| 14:74816258:T:C | L1853P | 1.000 |
| 14:74816264:G:C | R1855P | 1.000 |
| 14:74816602:C:A | P1866H | 1.000 |
| 14:74816611:T:C | L1869P | 1.000 |
| 14:74816620:A:T | D1872V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000047216 (14:74762751 A>G), RS1000173073 (14:74814632 T>C,G), RS1000179794 (14:74810932 T>G), RS1000205600 (14:74765952 C>A), RS1000219731 (14:74773039 G>A), RS1000250282 (14:74775908 A>C,T), RS1000318046 (14:74765670 C>T), RS1000322946 (14:74775565 A>T), RS1000405714 (14:74813582 T>C), RS1000444212 (14:74779002 G>A), RS1000480305 (14:74769251 A>C,G,T), RS1000547361 (14:74771666 A>G), RS1000581507 (14:74774336 G>A,T), RS1000615630 (14:74808779 G>A), RS1000654880 (14:74773967 C>T)
Disease associations
OMIM: gene MIM:619766 | 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
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004603_139 | Platelet count | 5.000000e-09 |
| GCST005237_3 | Mood instability | 1.000000e-06 |
| GCST005238_3 | Mood instability | 3.000000e-09 |
| GCST006976_18 | Macular thickness | 4.000000e-25 |
| GCST007709_128 | General factor of neuroticism | 2.000000e-11 |
| GCST007709_130 | General factor of neuroticism | 1.000000e-09 |
| GCST010241_69 | Apolipoprotein A1 levels | 5.000000e-14 |
| GCST90000514_22 | Gastroesophageal reflux disease | 2.000000e-09 |
| GCST90002400_138 | Plateletcrit | 2.000000e-13 |
| GCST90002402_192 | Platelet count | 2.000000e-12 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0008475 | mood instability measurement |
| EFO:0007660 | neuroticism measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0007985 | platelet crit |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009208 | Myoepithelioma | C04.557.435.585 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Mercuric Chloride | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | decreases expression | 1 |
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): gastroesophageal reflux disease, myoepithelial tumor