BYSL
gene geneOn this page
Also known as Enp1
Summary
BYSL (bystin like, HGNC:1157) is a protein-coding gene on chromosome 6p21.1, encoding Bystin (Q13895). Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi.
Source: NCBI Gene 705 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 108 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_004053
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1157 |
| Approved symbol | BYSL |
| Name | bystin like |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Enp1 |
| Ensembl gene | ENSG00000112578 |
| Ensembl biotype | protein_coding |
| OMIM | 603871 |
| Entrez | 705 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000230340, ENST00000372996, ENST00000475702, ENST00000489290, ENST00000494032, ENST00000715726, ENST00000920331, ENST00000920332, ENST00000920333, ENST00000920334
RefSeq mRNA: 1 — MANE Select: NM_004053
NM_004053
CCDS: CCDS34450
Canonical transcript exons
ENST00000230340 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001812166 | 41930132 | 41930270 |
| ENSE00003471874 | 41931396 | 41931556 |
| ENSE00003596859 | 41931728 | 41931830 |
| ENSE00003614422 | 41927374 | 41927536 |
| ENSE00003652226 | 41930635 | 41930768 |
| ENSE00004027708 | 41932361 | 41933046 |
| ENSE00004027709 | 41921499 | 41921830 |
Expression profiles
Bgee: expression breadth ubiquitous, 187 present calls, max score 91.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.2451 / max 248.2774, expressed in 1803 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67779 | 23.0911 | 1784 |
| 67780 | 3.7698 | 1551 |
| 67778 | 0.3842 | 161 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.74 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.41 | gold quality |
| muscle of leg | UBERON:0001383 | 87.16 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.23 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.32 | gold quality |
| muscle organ | UBERON:0001630 | 85.30 | gold quality |
| embryo | UBERON:0000922 | 84.96 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.87 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.59 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.42 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.29 | gold quality |
| cortical plate | UBERON:0005343 | 84.22 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 84.11 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.05 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.03 | gold quality |
| cartilage tissue | UBERON:0002418 | 84.02 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.00 | gold quality |
| ventricular zone | UBERON:0003053 | 83.71 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.17 | gold quality |
| adrenal gland | UBERON:0002369 | 82.99 | gold quality |
| endometrium epithelium | UBERON:0004811 | 82.98 | silver quality |
| smooth muscle tissue | UBERON:0001135 | 82.95 | gold quality |
| adrenal cortex | UBERON:0001235 | 82.70 | gold quality |
| left uterine tube | UBERON:0001303 | 82.67 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.41 | gold quality |
| apex of heart | UBERON:0002098 | 82.31 | gold quality |
| triceps brachii | UBERON:0001509 | 81.95 | gold quality |
| gluteal muscle | UBERON:0002000 | 81.93 | silver quality |
| lower esophagus mucosa | UBERON:0035834 | 81.68 | gold quality |
| heart left ventricle | UBERON:0002084 | 81.52 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.49 |
| E-MTAB-3929 | no | 383.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting BYSL, 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-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-146B-3P | 97.83 | 65.29 | 782 |
| HSA-MIR-3157-5P | 97.41 | 67.61 | 998 |
| HSA-MIR-6748-3P | 97.20 | 65.66 | 836 |
| HSA-MIR-6854-5P | 96.77 | 65.96 | 848 |
| HSA-MIR-621 | 96.76 | 66.89 | 371 |
| HSA-MIR-4512 | 95.26 | 63.08 | 371 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 6)
- These results suggest that, while bystin may play multiple roles in mammalian cells, a conserved function is to facilitate ribosome biogenesis required for cell growth. (PMID:17381424)
- review of the roles of bystin in embryo implantation, assembly of ribosomes, and as a target of c-MYC (PMID:17917702)
- bystin is necessary for efficient cleavage of the internal transcribed spacer 1 at site 2 and for further processing of the pre-rRNA. (PMID:20805244)
- BYSL contributes to tumor growth by cooperating with the mTORC2 complex in gliomas. (PMID:33628587)
- DDX10 and BYSL as the potential targets of chondrosarcoma and glioma. (PMID:34797290)
- Increased Expression and Prognostic Significance of BYSL in Melanoma. (PMID:38980088)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bysl | ENSDARG00000001057 |
| mus_musculus | Bysl | ENSMUSG00000023988 |
| rattus_norvegicus | Bysl | ENSRNOG00000049121 |
| drosophila_melanogaster | bys | FBGN0010292 |
| caenorhabditis_elegans | WBGENE00000276 |
Protein
Protein identifiers
Bystin — Q13895 (reviewed: Q13895)
All UniProt accessions (3): Q13895, F8WBL2, H7BY94
UniProt curated annotations — full annotation on UniProt →
Function. Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos.
Subunit / interactions. Binds trophinin, tastin and cytokeratins.
Subcellular location. Cytoplasm. Nucleus. Nucleolus.
Tissue specificity. Found in the placenta from the sixth week of pregnancy. Was localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the level decreased and then disappeared from placental villi.
Miscellaneous. HeLa cells lacking BYSL show a delay in the processing of the 18S rRNA component of the 40S ribosomal subunit. HT-H cells lacking BYSL show trophinin-independent signaling through ERBB4.
Similarity. Belongs to the bystin family.
RefSeq proteins (1): NP_004044* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007955 | Bystin | Family |
Pfam: PF05291
UniProt features (37 total): helix 21, modified residue 6, sequence variant 2, sequence conflict 2, turn 2, chain 1, region of interest 1, compositionally biased region 1, strand 1
Structure
Experimental structures (PDB)
13 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7WTU | ELECTRON MICROSCOPY | 3 |
| 7WTZ | ELECTRON MICROSCOPY | 3 |
| 7WTT | ELECTRON MICROSCOPY | 3.1 |
| 7WTX | ELECTRON MICROSCOPY | 3.1 |
| 7WTW | ELECTRON MICROSCOPY | 3.2 |
| 7WU0 | ELECTRON MICROSCOPY | 3.3 |
| 7WTV | ELECTRON MICROSCOPY | 3.5 |
| 6G18 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
| 6G4S | ELECTRON MICROSCOPY | 4 |
| 6G4W | ELECTRON MICROSCOPY | 4.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13895-F1 | 78.24 | 0.50 |
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 (6): 40, 55, 98, 156, 167, 414
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 210 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_RIBOSOME_BIOGENESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_MATURATION_OF_SSU_RRNA, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_BLASTOCYST_FORMATION, WEI_MYCN_TARGETS_WITH_E_BOX, MUELLER_PLURINET, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, ENGELMANN_CANCER_PROGENITORS_UP, GOBP_BLASTOCYST_DEVELOPMENT
GO Biological Process (8): maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462), trophectodermal cell differentiation (GO:0001829), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254), stem cell proliferation (GO:0072089), regulation of protein localization to nucleolus (GO:1904749), in utero embryonic development (GO:0001701), blastocyst formation (GO:0001825)
GO Molecular Function (3): RNA binding (GO:0003723), snoRNA binding (GO:0030515), protein binding (GO:0005515)
GO Cellular Component (9): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), preribosome, small subunit precursor (GO:0030688), apical part of cell (GO:0045177), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 1 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| maturation of SSU-rRNA | 1 |
| blastocyst formation | 1 |
| cell differentiation | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| cell population proliferation | 1 |
| stem cell division | 1 |
| regulation of protein localization to nucleus | 1 |
| protein localization to nucleolus | 1 |
| chordate embryonic development | 1 |
| blastocyst development | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| preribosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2650 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BYSL | TRO | Q12816 | 999 |
| BYSL | TROAP | Q12815 | 998 |
| BYSL | LTV1 | Q96GA3 | 991 |
| BYSL | TSR1 | Q2NL82 | 963 |
| BYSL | RIOK2 | Q9BVS4 | 942 |
| BYSL | RPS3 | P23396 | 923 |
| BYSL | PNO1 | Q9NRX1 | 905 |
| BYSL | NOB1 | Q9ULX3 | 902 |
| BYSL | RRP12 | Q5JTH9 | 872 |
| BYSL | NOP14 | P78316 | 863 |
| BYSL | RIOK1 | Q9BRS2 | 841 |
| BYSL | DDX49 | Q9Y6V7 | 823 |
| BYSL | PDCD11 | Q14690 | 812 |
| BYSL | NAT10 | Q9H0A0 | 811 |
| BYSL | EMG1 | Q92979 | 806 |
IntAct
773 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BYSL | LTV1 | psi-mi:“MI:0915”(physical association) | 0.870 |
| LTV1 | BYSL | psi-mi:“MI:0915”(physical association) | 0.870 |
| BYSL | COIL | psi-mi:“MI:0915”(physical association) | 0.840 |
| BYSL | MRFAP1L1 | psi-mi:“MI:0915”(physical association) | 0.840 |
| MRFAP1L1 | BYSL | psi-mi:“MI:0915”(physical association) | 0.840 |
| BYSL | TRIM37 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TRAF4 | BYSL | psi-mi:“MI:0915”(physical association) | 0.780 |
| BYSL | TRAF4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| BYSL | PNMA2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CCDC102B | BYSL | psi-mi:“MI:0915”(physical association) | 0.720 |
| NECAB2 | BYSL | psi-mi:“MI:0915”(physical association) | 0.720 |
| BYSL | ZBTB14 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZBTB14 | BYSL | psi-mi:“MI:0915”(physical association) | 0.720 |
| STX11 | BYSL | psi-mi:“MI:0915”(physical association) | 0.720 |
| BYSL | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.720 |
| BYSL | EMD | psi-mi:“MI:0915”(physical association) | 0.720 |
| FXR2 | BYSL | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (555): BYSL (Two-hybrid), PHC2 (Two-hybrid), EMD (Two-hybrid), EPS8 (Two-hybrid), GOLGA2 (Two-hybrid), KRT31 (Two-hybrid), MID1 (Two-hybrid), TRIM37 (Two-hybrid), TRIM27 (Two-hybrid), SMN2 (Two-hybrid), TRIP6 (Two-hybrid), UBE2H (Two-hybrid), ZBTB14 (Two-hybrid), AIMP2 (Two-hybrid), COIL (Two-hybrid)
ESM2 similar proteins: A0A097I2D0, A0A1W2PP81, A0A1W2PPE2, A0A1W2PPH5, A0A1W2PPL8, A0A1W2PPW3, A0A1W2PQ09, A0A1W2PR64, A0A1W2PRV1, A6NLC8, F4HR03, O54825, O75461, P0C1H6, P0CV38, P0DMV1, P0DMV2, P0DW11, P0DW12, P0DW13, P0DW14, P40914, P49585, P49906, P81195, Q0MTC0, Q13895, Q15544, Q2N2K6, Q3SZB8, Q5DJT8, Q5RA91, Q5U1X0, Q6CER9, Q6RG77, Q6XL73, Q75DE4, Q7XHR2, Q7Z2G1, Q80WL2
Diamond homologs: A7S7F2, A9UNU6, O54825, O60071, P38333, P51406, Q13895, Q20932, Q54IS0, Q5E9N0, Q80WL2, Q8RWS4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Keratinization | 5 | 11.1× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
108 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 11 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
767 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:41921829:GG:G | donor_gain | 1.0000 |
| 6:41921830:GG:G | donor_gain | 1.0000 |
| 6:41927370:CTA:C | acceptor_loss | 1.0000 |
| 6:41927371:TAGGT:T | acceptor_loss | 1.0000 |
| 6:41927372:A:AG | acceptor_gain | 1.0000 |
| 6:41927372:AGGT:A | acceptor_loss | 1.0000 |
| 6:41927373:G:GG | acceptor_gain | 1.0000 |
| 6:41927373:G:GT | acceptor_loss | 1.0000 |
| 6:41927536:GGT:G | donor_loss | 1.0000 |
| 6:41927537:G:GA | donor_loss | 1.0000 |
| 6:41927538:T:G | donor_loss | 1.0000 |
| 6:41930627:A:AG | acceptor_gain | 1.0000 |
| 6:41930628:T:G | acceptor_gain | 1.0000 |
| 6:41930631:CTAG:C | acceptor_loss | 1.0000 |
| 6:41930633:A:AG | acceptor_gain | 1.0000 |
| 6:41930633:AG:A | acceptor_gain | 1.0000 |
| 6:41930634:G:GG | acceptor_gain | 1.0000 |
| 6:41930634:GG:G | acceptor_gain | 1.0000 |
| 6:41930634:GGT:G | acceptor_gain | 1.0000 |
| 6:41930634:GGTAT:G | acceptor_gain | 1.0000 |
| 6:41930765:CCAG:C | donor_loss | 1.0000 |
| 6:41930767:AGGT:A | donor_loss | 1.0000 |
| 6:41930768:GGTAG:G | donor_loss | 1.0000 |
| 6:41930769:GTAGA:G | donor_loss | 1.0000 |
| 6:41930770:T:G | donor_loss | 1.0000 |
| 6:41931394:A:AG | acceptor_gain | 1.0000 |
| 6:41931394:A:AT | acceptor_loss | 1.0000 |
| 6:41931394:AG:A | acceptor_gain | 1.0000 |
| 6:41931395:G:GG | acceptor_gain | 1.0000 |
| 6:41931395:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
2817 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:41930701:T:A | W213R | 1.000 |
| 6:41930701:T:C | W213R | 1.000 |
| 6:41930703:G:C | W213C | 1.000 |
| 6:41930703:G:T | W213C | 1.000 |
| 6:41930737:T:A | W225R | 1.000 |
| 6:41930737:T:C | W225R | 1.000 |
| 6:41931556:G:A | G289R | 1.000 |
| 6:41931556:G:C | G289R | 1.000 |
| 6:41931556:G:T | G289W | 1.000 |
| 6:41931728:G:A | G289E | 1.000 |
| 6:41931775:G:C | A305P | 1.000 |
| 6:41921735:T:C | I58T | 0.999 |
| 6:41930152:T:A | I151N | 0.999 |
| 6:41930657:G:A | G198E | 0.999 |
| 6:41930670:G:C | K202N | 0.999 |
| 6:41930670:G:T | K202N | 0.999 |
| 6:41930677:A:G | K205E | 0.999 |
| 6:41930714:T:A | L217H | 0.999 |
| 6:41930714:T:C | L217P | 0.999 |
| 6:41930739:G:C | W225C | 0.999 |
| 6:41930739:G:T | W225C | 0.999 |
| 6:41930750:C:A | A229D | 0.999 |
| 6:41930762:C:A | A233D | 0.999 |
| 6:41931413:T:C | L241P | 0.999 |
| 6:41931428:C:A | A246D | 0.999 |
| 6:41931436:T:C | F249L | 0.999 |
| 6:41931437:T:C | F249S | 0.999 |
| 6:41931438:C:A | F249L | 0.999 |
| 6:41931438:C:G | F249L | 0.999 |
| 6:41931446:T:C | L252P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000020550 (6:41907062 C>A), RS1000020825 (6:41929266 T>G), RS1000053120 (6:41907386 C>A,G,T), RS1000067246 (6:41917979 T>C), RS1000087810 (6:41914761 C>T), RS1000135353 (6:41916654 C>T), RS1000205243 (6:41911209 G>T), RS1000250025 (6:41914444 G>A), RS1000383840 (6:41921265 C>G), RS1000477092 (6:41927228 G>C), RS1000490405 (6:41913041 T>C,G), RS1000847759 (6:41926867 G>A), RS1000919211 (6:41922701 C>A), RS1001041665 (6:41908876 A>G), RS1001236599 (6:41918301 C>T)
Disease associations
OMIM: gene MIM:603871 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000498_6 | Hematological parameters | 7.000000e-19 |
| GCST000503_2 | Mean corpuscular volume | 1.000000e-31 |
| GCST000504_1 | Mean corpuscular hemoglobin | 8.000000e-20 |
| GCST000585_11 | Mean corpuscular volume | 4.000000e-27 |
| GCST000587_12 | Mean corpuscular hemoglobin | 2.000000e-20 |
| GCST000588_5 | Red blood cell count | 1.000000e-10 |
| GCST001781_8 | Mean corpuscular volume | 9.000000e-08 |
| GCST002541_21 | Menarche (age at onset) | 1.000000e-12 |
| GCST003993_12 | Menarche (age at onset) | 5.000000e-08 |
| GCST009391_1889 | Metabolite levels | 6.000000e-07 |
| GCST90002394_155 | Monocyte percentage of white cells | 1.000000e-13 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004305 | erythrocyte count |
| EFO:0004703 | age at menarche |
| EFO:0010414 | triacylglycerol 52:2 measurement |
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067430 (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 |
|---|---|---|---|---|
| 5.49 | Kd | 3263 | nM | CHEMBL5653589 |
| 5.49 | ED50 | 3263 | 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 | 2147965: Binding affinity to human BYSL incubated for 45 mins by Kinobead based pull down assay | kd | 3.2627 | uM |
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | decreases expression, increases expression, affects expression, affects cotreatment | 4 |
| sodium arsenite | affects binding, increases reaction, decreases expression, increases abundance, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment, increases methylation | 2 |
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| Estradiol | increases expression | 2 |
| Nickel | increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| glycidamide | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | increases abundance, affects expression | 1 |
| Phenobarbital | affects 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 |
|---|---|---|---|
| CHEMBL5651007 | Binding | Binding affinity to human BYSL 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 |
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.