PYM1
gene geneOn this page
Also known as PYM
Summary
PYM1 (PYM1 exon junction complex associated factor, HGNC:30258) is a protein-coding gene on chromosome 12q13.2, encoding Partner of Y14 and mago (Q9BRP8). Key regulator of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon-exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post-transcriptional processes in the cytoplasm…. It is a selective cancer dependency (DepMap: 29.7% of cell lines).
Enables ribosome binding activity. Involved in exon-exon junction complex disassembly; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; and positive regulation of translation. Located in cell junction; cytosol; and nuclear lumen. Part of exon-exon junction complex.
Source: NCBI Gene 84305 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 11 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 29.7% of screened cell lines
- MANE Select transcript:
NM_032345
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30258 |
| Approved symbol | PYM1 |
| Name | PYM1 exon junction complex associated factor |
| Location | 12q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PYM |
| Ensembl gene | ENSG00000170473 |
| Ensembl biotype | protein_coding |
| OMIM | 619753 |
| Entrez | 84305 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000302533, ENST00000398213, ENST00000408946, ENST00000454792, ENST00000547925, ENST00000549939, ENST00000557259, ENST00000859965
RefSeq mRNA: 2 — MANE Select: NM_032345
NM_001143853, NM_032345
CCDS: CCDS41795, CCDS44916
Canonical transcript exons
ENST00000408946 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001143351 | 55901413 | 55902355 |
| ENSE00001568505 | 55927725 | 55927894 |
| ENSE00003560435 | 55903387 | 55903480 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 95.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.3793 / max 165.9154, expressed in 1816 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 131450 | 13.3040 | 1756 |
| 131447 | 11.0752 | 1785 |
| 131448 | 3.4678 | 1430 |
| 131449 | 0.9620 | 600 |
| 131453 | 0.3615 | 136 |
| 131452 | 0.2088 | 92 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 95.77 | gold quality |
| esophagus mucosa | UBERON:0002469 | 95.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.95 | gold quality |
| upper arm skin | UBERON:0004263 | 94.09 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.46 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 93.45 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.28 | silver quality |
| tibialis anterior | UBERON:0001385 | 92.99 | gold quality |
| skin of leg | UBERON:0001511 | 92.87 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.50 | gold quality |
| esophagus | UBERON:0001043 | 92.33 | gold quality |
| granulocyte | CL:0000094 | 91.70 | gold quality |
| rectum | UBERON:0001052 | 91.65 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.54 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.51 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.48 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.40 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.38 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.31 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.21 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.19 | gold quality |
| leukocyte | CL:0000738 | 91.17 | gold quality |
| monocyte | CL:0000576 | 91.01 | gold quality |
| pancreatic ductal cell | CL:0002079 | 90.94 | gold quality |
| zone of skin | UBERON:0000014 | 90.93 | gold quality |
| transverse colon | UBERON:0001157 | 90.90 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.90 | gold quality |
| lymph node | UBERON:0000029 | 90.79 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.79 | gold quality |
| mouth mucosa | UBERON:0003729 | 90.79 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6524 | no | 99.87 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting PYM1, 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-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 29.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- suggest that PYM functions as a bridge between EJC-bearing spliced mRNAs and the translation machinery to enhance translation of the mRNAs (PMID:18026120)
- PYM is an Exon junction complexes(EJC) disassembly factor that acts both in vitro and in living cells, and that antagonizes important EJC functions. (PMID:19410547)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pym1 | ENSDARG00000046024 |
| mus_musculus | Pym1 | ENSMUSG00000064030 |
| rattus_norvegicus | Pym1 | ENSRNOG00000058130 |
| rattus_norvegicus | ENSRNOG00000079680 | |
| rattus_norvegicus | ENSRNOG00000087436 | |
| drosophila_melanogaster | Pym | FBGN0034918 |
| caenorhabditis_elegans | WBGENE00011871 |
Protein
Protein identifiers
Partner of Y14 and mago — Q9BRP8 (reviewed: Q9BRP8)
Alternative names: PYM homolog 1 exon junction complex-associated factor, Protein wibg homolog
All UniProt accessions (3): Q9BRP8, F8VT68, H0YJW5
UniProt curated annotations — full annotation on UniProt →
Function. Key regulator of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon-exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post-transcriptional processes in the cytoplasm such as mRNA export, nonsense-mediated mRNA decay (NMD) or translation. Acts as an EJC disassembly factor, allowing translation-dependent EJC removal and recycling by disrupting mature EJC from spliced mRNAs. Its association with the 40S ribosomal subunit probably prevents a translation-independent disassembly of the EJC from spliced mRNAs, by restricting its activity to mRNAs that have been translated. Interferes with NMD and enhances translation of spliced mRNAs, probably by antagonizing EJC functions. May bind RNA; the relevance of RNA-binding remains unclear in vivo, RNA-binding was detected by PubMed:14968132, while PubMed:19410547 did not detect RNA-binding activity independently of the EJC.
Subunit / interactions. Interacts (via N-terminus) with MAGOH and RBM8A; the interaction is direct. Associates (eIF2A-like region) with the 40S ribosomal subunit and the 48S preinitiation complex.
Subcellular location. Cytoplasm. Nucleus. Nucleolus. Nucleoplasm.
Domain organisation. The eIF2A-like region shares sequence similarity with eIF2A and mediates the interaction with the 40S ribosomal subunit and the 48S preinitiation complex.
Similarity. Belongs to the pym family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRP8-1 | 1 | yes |
| Q9BRP8-2 | 2 |
RefSeq proteins (2): NP_001137325, NP_115721* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015362 | WIBG_mago-bd | Domain |
| IPR036348 | WIBG_N_sf | Homologous_superfamily |
| IPR039333 | PYM1 | Family |
Pfam: PF09282
UniProt features (18 total): modified residue 5, region of interest 4, compositionally biased region 3, coiled-coil region 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRP8-F1 | 76.01 | 0.36 |
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 (5): 1, 6, 64, 72, 117
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 142 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, AREB6_03, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACTGCAG_MIR173P, YY1_Q6, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, CCANNAGRKGGC_UNKNOWN, SOX9_B1, IRF1_Q6, IRF_Q6, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B, TCCAGAG_MIR518C, ELK1_01
GO Biological Process (4): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), positive regulation of translation (GO:0045727), exon-exon junction complex disassembly (GO:1903259), regulation of translation (GO:0006417)
GO Molecular Function (3): RNA binding (GO:0003723), ribosome binding (GO:0043022), protein binding (GO:0005515)
GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), cell junction (GO:0030054), exon-exon junction complex (GO:0035145), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| translation | 2 |
| nuclear lumen | 2 |
| nuclear-transcribed mRNA catabolic process | 1 |
| regulation of translation | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of protein metabolic process | 1 |
| protein-containing complex disassembly | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| nucleic acid binding | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
792 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PYM1 | MAGOHB | Q96A72 | 964 |
| PYM1 | MAGOH | P50606 | 964 |
| PYM1 | RBM8A | Q9Y5S9 | 705 |
| PYM1 | UPF3B | Q9BZI7 | 618 |
| PYM1 | EIF4A3 | P38919 | 597 |
| PYM1 | UPF1 | Q92900 | 543 |
| PYM1 | UPF2 | Q9HAU5 | 524 |
| PYM1 | UPF3A | Q9H1J1 | 449 |
| PYM1 | ADCY10 | Q96PN6 | 420 |
| PYM1 | STOML2 | Q9UJZ1 | 419 |
| PYM1 | CASC3 | O15234 | 407 |
| PYM1 | SEC63 | Q9UGP8 | 386 |
| PYM1 | SUOX | P51687 | 386 |
| PYM1 | SMG7 | Q92540 | 382 |
| PYM1 | AAR2 | Q9Y312 | 376 |
IntAct
132 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CASC3 | EIF4A3 | psi-mi:“MI:0915”(physical association) | 0.980 |
| RBM8A | MAGOH | psi-mi:“MI:0915”(physical association) | 0.980 |
| RBM8A | MAGOH | psi-mi:“MI:0914”(association) | 0.980 |
| MAGOH | CASC3 | psi-mi:“MI:0914”(association) | 0.970 |
| CDKN2C | CDK4 | psi-mi:“MI:0914”(association) | 0.970 |
| PYM1 | MAGOH | psi-mi:“MI:0914”(association) | 0.940 |
| PYM1 | MAGOH | psi-mi:“MI:0915”(physical association) | 0.940 |
| MAGOH | PYM1 | psi-mi:“MI:0914”(association) | 0.940 |
| MAGOH | PYM1 | psi-mi:“MI:0915”(physical association) | 0.940 |
| MAGOH | EIF4A3 | psi-mi:“MI:0914”(association) | 0.940 |
| RBM8A | CASC3 | psi-mi:“MI:0914”(association) | 0.900 |
| LARP7 | CCNT1 | psi-mi:“MI:0914”(association) | 0.850 |
| MOB1B | LATS1 | psi-mi:“MI:0914”(association) | 0.840 |
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| CDA | LIN7A | psi-mi:“MI:0914”(association) | 0.640 |
| PYM1 | CASC3 | psi-mi:“MI:0914”(association) | 0.620 |
BioGRID (189): RTN4IP1 (Two-hybrid), WIBG (Affinity Capture-RNA), WIBG (Affinity Capture-RNA), WIBG (Affinity Capture-MS), WIBG (Affinity Capture-MS), WIBG (Affinity Capture-MS), NELFE (Co-fractionation), WIBG (Co-fractionation), WIBG (Co-fractionation), WIBG (Co-fractionation), RTN4IP1 (Two-hybrid), WIBG (Affinity Capture-MS), WIBG (Affinity Capture-MS), WIBG (Affinity Capture-MS), WIBG (Affinity Capture-MS)
ESM2 similar proteins: A1A4P4, A1CH36, A2ALW5, A5AAL8, B0BN56, O42911, O70279, P0C2B7, P58468, P83565, Q0CLE8, Q1ECT8, Q290P4, Q2GVC2, Q3SZ86, Q4G0I0, Q4V7Q1, Q5B4U6, Q5BJW9, Q5RFR4, Q5XJW2, Q61733, Q6RUT7, Q753F1, Q7SDU5, Q7SHR9, Q80ZS3, Q86TS9, Q8BGX2, Q8BK72, Q8CHP5, Q8SPE7, Q8TAE8, Q8VD26, Q8WUQ7, Q96AN5, Q96DF8, Q9BRP8, Q9BSF4, Q9BYN8
Diamond homologs: A6QPH1, B0WII7, B1WB17, B4NSP6, B5XDD3, B5XG19, P82804, Q16LW2, Q2F5J3, Q640E9, Q6PH11, Q7Q6B5, Q8CHP5, Q9BRP8, Q9LPZ4, Q5ZKC1, Q4QRJ7, Q8BJW6, Q9BY44
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 137 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 |
|---|---|---|---|
| Nonsense-Mediated Decay (NMD) | 10 | 26.2× | 3e-10 |
| Eukaryotic Translation Initiation | 7 | 24.3× | 2e-07 |
| Cap-dependent Translation Initiation | 7 | 24.3× | 2e-07 |
| SARS-CoV-1 modulates host translation machinery | 7 | 24.3× | 2e-07 |
| Eukaryotic Translation Elongation | 7 | 21.9× | 5e-07 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 7 | 21.4× | 5e-07 |
| SARS-CoV-2 modulates host translation machinery | 8 | 20.1× | 1e-07 |
| Influenza Viral RNA Transcription and Replication | 8 | 19.4× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 13 | 19.6× | 8e-11 |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 5 | 19.0× | 5e-04 |
| mRNA export from nucleus | 7 | 16.8× | 3e-05 |
| ribosomal small subunit biogenesis | 7 | 13.0× | 1e-04 |
| rRNA processing | 11 | 12.7× | 3e-07 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 9.9× | 9e-03 |
| translation | 10 | 8.3× | 5e-05 |
| mRNA splicing, via spliceosome | 10 | 7.5× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 8 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
865 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:55902351:CATAT:C | acceptor_gain | 1.0000 |
| 12:55903370:AAAG:A | donor_gain | 1.0000 |
| 12:55903385:A:AC | donor_gain | 1.0000 |
| 12:55903385:A:AT | donor_loss | 1.0000 |
| 12:55903386:C:CC | donor_gain | 1.0000 |
| 12:55903386:CA:C | donor_gain | 1.0000 |
| 12:55903396:T:TA | donor_gain | 1.0000 |
| 12:55903399:T:TA | donor_gain | 1.0000 |
| 12:55903412:AT:A | donor_gain | 1.0000 |
| 12:55903413:T:C | donor_gain | 1.0000 |
| 12:55903413:T:TA | donor_gain | 1.0000 |
| 12:55903476:CTTGC:C | acceptor_gain | 1.0000 |
| 12:55903477:TTGC:T | acceptor_gain | 1.0000 |
| 12:55903478:TGCCT:T | acceptor_loss | 1.0000 |
| 12:55903479:GC:G | acceptor_gain | 1.0000 |
| 12:55903479:GCCTA:G | acceptor_loss | 1.0000 |
| 12:55903480:CC:C | acceptor_gain | 1.0000 |
| 12:55903480:CCTAA:C | acceptor_loss | 1.0000 |
| 12:55903481:C:A | acceptor_loss | 1.0000 |
| 12:55903481:C:CC | acceptor_gain | 1.0000 |
| 12:55902353:TAT:T | acceptor_gain | 0.9900 |
| 12:55902353:TATC:T | acceptor_loss | 0.9900 |
| 12:55902354:ATCTG:A | acceptor_loss | 0.9900 |
| 12:55902355:TCTG:T | acceptor_loss | 0.9900 |
| 12:55902356:C:CC | acceptor_gain | 0.9900 |
| 12:55902356:CTGCA:C | acceptor_loss | 0.9900 |
| 12:55902357:T:G | acceptor_loss | 0.9900 |
| 12:55903379:CCA:C | donor_gain | 0.9900 |
| 12:55903384:TAC:T | donor_gain | 0.9900 |
| 12:55903385:ACA:A | donor_gain | 0.9900 |
AlphaMissense
1303 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:55903439:G:T | R27S | 1.000 |
| 12:55902354:A:C | Y45D | 0.999 |
| 12:55902354:A:G | Y45H | 0.999 |
| 12:55903447:C:A | G24V | 0.999 |
| 12:55903447:C:T | G24E | 0.999 |
| 12:55903448:C:A | G24W | 0.999 |
| 12:55902346:G:C | N47K | 0.998 |
| 12:55902346:G:T | N47K | 0.998 |
| 12:55902354:A:T | Y45N | 0.998 |
| 12:55903419:T:A | K33N | 0.998 |
| 12:55903419:T:G | K33N | 0.998 |
| 12:55903471:A:T | I16N | 0.998 |
| 12:55901987:A:G | L167P | 0.997 |
| 12:55902017:A:G | L157P | 0.997 |
| 12:55903393:A:T | V42D | 0.997 |
| 12:55903412:A:G | Y36H | 0.997 |
| 12:55903415:C:G | G35R | 0.997 |
| 12:55903415:C:T | G35R | 0.997 |
| 12:55903434:C:A | K28N | 0.997 |
| 12:55903434:C:G | K28N | 0.997 |
| 12:55903438:C:G | R27P | 0.997 |
| 12:55903451:C:G | D23H | 0.997 |
| 12:55901931:T:C | K186E | 0.996 |
| 12:55902005:A:G | L161P | 0.996 |
| 12:55902009:T:C | K160E | 0.996 |
| 12:55902012:T:C | K159E | 0.996 |
| 12:55902222:G:T | R89S | 0.996 |
| 12:55902347:T:A | N47I | 0.996 |
| 12:55902353:T:C | Y45C | 0.996 |
| 12:55903405:G:T | P38H | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000000622 (12:55926607 A>C), RS1000160488 (12:55925061 C>T), RS1000165254 (12:55902108 C>T), RS1000181334 (12:55920841 T>C), RS1000260623 (12:55924795 A>T), RS1000282407 (12:55908856 A>C), RS1000398860 (12:55926879 C>A,G), RS1000552715 (12:55905656 T>C,G), RS1000578731 (12:55925708 GCAGTTTATTCCTTTTTCTCTTC>G), RS1000648158 (12:55921772 A>G), RS1000792386 (12:55918728 C>T), RS1000956503 (12:55921945 C>T), RS1000989935 (12:55913233 A>T), RS1000995049 (12:55927826 C>T), RS1001003427 (12:55901039 G>A)
Disease associations
OMIM: gene MIM:619753 | 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 |
|---|---|---|
| GCST010002_217 | Refractive error | 6.000000e-174 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066359 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.14 | Kd | 7239 | nM | CHEMBL5653589 |
| 5.14 | ED50 | 7239 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149782: Binding affinity to human WIBG incubated for 45 mins by Kinobead based pull down assay | kd | 7.2391 | uM |
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| bisphenol A | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | decreases expression, affects localization, increases expression, affects cotreatment | 1 |
| trichostatin A | affects expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| scriptaid | 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 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Panobinostat | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cannabidiol | increases expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Deoxyglucose | increases expression | 1 |
| Doxorubicin | decreases 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 |
|---|---|---|---|
| CHEMBL5652824 | Binding | Binding affinity to human WIBG 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 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3FH | Abcam HEK293T PYM1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.