EBNA1BP2
gene geneOn this page
Also known as NOBPEBP2P40
Summary
EBNA1BP2 (EBNA1 binding protein 2, HGNC:15531) is a protein-coding gene on chromosome 1p34.2, encoding Probable rRNA-processing protein EBP2 (Q99848). Required for the processing of the 27S pre-rRNA. It is a common-essential gene (DepMap: required in 98.0% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in rRNA processing and ribosomal large subunit biogenesis. Located in chromosome and nucleolus.
Source: NCBI Gene 10969 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 49 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 98.0% of screened cell lines (common-essential)
- MANE Select transcript:
NM_006824
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15531 |
| Approved symbol | EBNA1BP2 |
| Name | EBNA1 binding protein 2 |
| Location | 1p34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NOBP, EBP2, P40 |
| Ensembl gene | ENSG00000117395 |
| Ensembl biotype | protein_coding |
| OMIM | 614443 |
| Entrez | 10969 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding_CDS_not_defined, 4 protein_coding
ENST00000236051, ENST00000431635, ENST00000461557, ENST00000463906, ENST00000466927, ENST00000472982, ENST00000474566, ENST00000483082, ENST00000491223, ENST00000894725, ENST00000954564
RefSeq mRNA: 2 — MANE Select: NM_006824
NM_001159936, NM_006824
CCDS: CCDS478, CCDS53308
Canonical transcript exons
ENST00000236051 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001080522 | 43172053 | 43172290 |
| ENSE00001080525 | 43164184 | 43164493 |
| ENSE00001189528 | 43170756 | 43170879 |
| ENSE00003485480 | 43167160 | 43167235 |
| ENSE00003583248 | 43168939 | 43169028 |
| ENSE00003589524 | 43171479 | 43171651 |
| ENSE00003641116 | 43164643 | 43164805 |
| ENSE00003644947 | 43166826 | 43166919 |
| ENSE00003678448 | 43171886 | 43171969 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 97.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.1031 / max 454.9824, expressed in 1821 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12022 | 61.1709 | 1821 |
| 12023 | 0.3604 | 166 |
| 12027 | 0.2663 | 134 |
| 12021 | 0.2123 | 73 |
| 12020 | 0.0795 | 17 |
| 12019 | 0.0093 | 4 |
| 12026 | 0.0043 | 4 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 97.75 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.54 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.68 | gold quality |
| pituitary gland | UBERON:0000007 | 95.53 | gold quality |
| right testis | UBERON:0004534 | 95.24 | gold quality |
| left testis | UBERON:0004533 | 95.09 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.85 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.60 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.50 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.44 | gold quality |
| tendon | UBERON:0000043 | 94.31 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.26 | gold quality |
| right uterine tube | UBERON:0001302 | 94.14 | gold quality |
| cortical plate | UBERON:0005343 | 94.06 | gold quality |
| testis | UBERON:0000473 | 93.87 | gold quality |
| cingulate cortex | UBERON:0003027 | 93.87 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.84 | gold quality |
| body of pancreas | UBERON:0001150 | 93.73 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.71 | gold quality |
| rectum | UBERON:0001052 | 93.70 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.69 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.65 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.65 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.64 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.59 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.55 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.51 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.47 | gold quality |
| frontal pole | UBERON:0002795 | 93.44 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 57.20 |
| E-HCAD-13 | yes | 20.51 |
| E-CURD-112 | yes | 8.59 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC, RB1
miRNA regulators (miRDB)
12 targeting EBNA1BP2, 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-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-520G-3P | 98.91 | 67.38 | 1914 |
| HSA-MIR-520H | 98.91 | 67.38 | 1914 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-10395-3P | 98.10 | 66.70 | 1726 |
| HSA-MIR-4680-5P | 96.43 | 67.15 | 893 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.0% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 8)
- attaches to yeast mitotic chromosomes in a cell cycle-dependent manner and causes EBNA1 to attach to the mitotic chromosomes and effect EBV plasmid segregation (PMID:12768013)
- Data show that human EBNA1 binding protein 2 (hEBP2 is essential for the proliferation of human cells and that repression of hEBP2 severely decreases the ability of EBNA1 and EBV-based plasmids to bind mitotic chromosomes. (PMID:15923612)
- RNA and protein levels of cyclin E1, a dominant oncoprotein, were elevated in the EBP2- enhanced green fluorescent protein stable clones. (PMID:18959818)
- BXDC1 and EBNA1BP2 function in a dynamic scaffold for ribosome biogenesis. (PMID:19170763)
- EBP2 is a novel binding partner of c-Myc that regulates cell proliferation, and tumorigenesis via a positive feedback loop. (PMID:24481446)
- We further show that the primary tumors as well as metastasized lesions derived from EBV antigen-expressing cancer cells( EBNA3C or EBNA1 ) in nude mice model display EMT markers expression pattern (PMID:25501510)
- Targeted profiling of RNA translation reveals mTOR-4EBP1/2-independent translation regulation of mRNAs encoding ribosomal proteins. (PMID:30224479)
- EBP2, a novel NPM-ALK-interacting protein in the nucleolus, contributes to the proliferation of ALCL cells by regulating tumor suppressor p53. (PMID:33040459)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ebna1bp2 | ENSDARG00000054980 |
| mus_musculus | Ebna1bp2 | ENSMUSG00000028729 |
| rattus_norvegicus | Ebna1bp2 | ENSRNOG00000045760 |
| drosophila_melanogaster | CG1542 | FBGN0039828 |
| caenorhabditis_elegans | WBGENE00015941 |
Protein
Protein identifiers
Probable rRNA-processing protein EBP2 — Q99848 (reviewed: Q99848)
Alternative names: EBNA1-binding protein 2, Nucleolar protein p40
All UniProt accessions (3): Q99848, H7C2Q8, Q6IB29
UniProt curated annotations — full annotation on UniProt →
Function. Required for the processing of the 27S pre-rRNA.
Subunit / interactions. Specifically interacts with EBV EBNA1. The EBNA1-EBP2 interaction is important for the stable segregation of EBV episomes during cell division. Interacts with WDR46.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the EBP2 family.
RefSeq proteins (2): NP_001153408, NP_006815* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008610 | Ebp2 | Family |
Pfam: PF05890
UniProt features (20 total): modified residue 9, region of interest 3, cross-link 3, chain 1, sequence variant 1, sequence conflict 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99848-F1 | 76.02 | 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 (12): 11, 13, 16, 264, 270, 94, 179, 218, 1, 3, 7, 9
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 170 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, MORF_DNMT1, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RIBOSOME_BIOGENESIS, BASSO_B_LYMPHOCYTE_NETWORK, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, KENNY_CTNNB1_TARGETS_UP, CAGCTG_AP4_Q5, EFC_Q6, SCHUHMACHER_MYC_TARGETS_UP, GGAANCGGAANY_UNKNOWN, chr1p34, GARY_CD5_TARGETS_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN
GO Biological Process (3): rRNA processing (GO:0006364), ribosomal large subunit biogenesis (GO:0042273), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (5): chromosome (GO:0005694), nucleolus (GO:0005730), preribosome, large subunit precursor (GO:0030687), nuclear periphery (GO:0034399), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| intracellular membraneless organelle | 2 |
| nuclear lumen | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| preribosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2972 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EBNA1BP2 | RPF2 | Q9H7B2 | 867 |
| EBNA1BP2 | PWP1 | Q13610 | 860 |
| EBNA1BP2 | WDR12 | Q9GZL7 | 853 |
| EBNA1BP2 | DDX21 | Q9NR30 | 826 |
| EBNA1BP2 | WDR74 | Q6RFH5 | 806 |
| EBNA1BP2 | PDCD11 | Q14690 | 789 |
| EBNA1BP2 | DDX56 | Q9NY93 | 767 |
| EBNA1BP2 | NIP7 | Q9Y221 | 757 |
| EBNA1BP2 | NOP2 | P46087 | 744 |
| EBNA1BP2 | GNL2 | Q13823 | 735 |
| EBNA1BP2 | SURF6 | O75683 | 710 |
| EBNA1BP2 | RSL24D1 | Q9UHA3 | 687 |
| EBNA1BP2 | NIFK | Q9BYG3 | 670 |
| EBNA1BP2 | GNL3 | Q9BVP2 | 661 |
| EBNA1BP2 | RRP15 | Q9Y3B9 | 657 |
IntAct
209 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BRIX1 | EBNA1BP2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| EBNA1BP2 | BRIX1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| SRP68 | SRP72 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| CEP70 | EBNA1BP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM9B | EBNA1BP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ING4 | KAT7 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| KNOP1 | DHX15 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3HAV1 | KHNYN | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (470): FAM9B (Two-hybrid), EBNA1BP2 (Affinity Capture-MS), EBNA1BP2 (Affinity Capture-MS), EBNA1BP2 (Affinity Capture-MS), EBNA1BP2 (Affinity Capture-MS), EBNA1BP2 (Affinity Capture-MS), RPL34 (Affinity Capture-MS), RPL3 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), RPL6 (Affinity Capture-MS), HIST1H1A (Affinity Capture-MS), HIST1H1E (Affinity Capture-MS), NPM1 (Affinity Capture-MS), RPL8 (Affinity Capture-MS), DDX21 (Affinity Capture-MS)
ESM2 similar proteins: A4R1G4, A5DLD1, A6QNR1, A6QR31, A6RKG5, A6ZZL7, A7E4K0, A7SL20, B2RYG1, B5VM59, B6HGB5, B6K8A0, C4Y4A0, C7YTL6, C9S8J9, D5GA77, P0CR21, P34247, P78794, Q09462, Q09867, Q09958, Q0V389, Q10106, Q3UFY0, Q55C50, Q5R9E5, Q5RAS1, Q5RJT2, Q5ZKM1, Q6BGV5, Q6CFU2, Q6CXA6, Q6DRJ4, Q752L7, Q75A47, Q75D81, Q8IY81, Q96EU6, Q99848
Diamond homologs: O13802, P36049, Q09958, Q99848, Q9D903, Q9I8J6, Q9LUJ5, Q9V9Z9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 214 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 |
|---|---|---|---|
| SRP-dependent cotranslational protein targeting to membrane | 16 | 12.2× | 9e-11 |
| Selenocysteine synthesis | 13 | 11.9× | 7e-09 |
| Eukaryotic Translation Initiation | 5 | 11.8× | 2e-03 |
| Cap-dependent Translation Initiation | 5 | 11.8× | 2e-03 |
| SARS-CoV-1 modulates host translation machinery | 5 | 11.8× | 2e-03 |
| Peptide chain elongation | 12 | 11.6× | 4e-08 |
| Viral mRNA Translation | 12 | 11.6× | 4e-08 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 12 | 11.5× | 4e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription by RNA polymerase I | 5 | 17.7× | 7e-04 |
| cytoplasmic translation | 15 | 15.2× | 3e-11 |
| ribosomal large subunit biogenesis | 6 | 14.5× | 3e-04 |
| rRNA processing | 18 | 13.9× | 7e-13 |
| ribosomal small subunit biogenesis | 11 | 13.7× | 1e-07 |
| regulation of alternative mRNA splicing, via spliceosome | 8 | 10.7× | 1e-04 |
| regulation of signal transduction by p53 class mediator | 5 | 10.5× | 6e-03 |
| negative regulation of viral genome replication | 5 | 10.2× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5391 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:43164489:CTCTT:C | acceptor_gain | 1.0000 |
| 1:43164491:CTT:C | acceptor_gain | 1.0000 |
| 1:43164494:C:CC | acceptor_gain | 1.0000 |
| 1:43164641:A:AC | donor_gain | 1.0000 |
| 1:43164642:C:CC | donor_gain | 1.0000 |
| 1:43164644:TTTG:T | donor_gain | 1.0000 |
| 1:43164801:TGGGC:T | acceptor_gain | 1.0000 |
| 1:43164803:GGC:G | acceptor_gain | 1.0000 |
| 1:43164806:C:CA | acceptor_loss | 1.0000 |
| 1:43164806:C:CC | acceptor_gain | 1.0000 |
| 1:43164807:T:A | acceptor_loss | 1.0000 |
| 1:43166824:ACC:A | donor_gain | 1.0000 |
| 1:43166825:CCC:C | donor_gain | 1.0000 |
| 1:43166830:T:TA | donor_gain | 1.0000 |
| 1:43166836:T:C | donor_gain | 1.0000 |
| 1:43166916:AAGCC:A | acceptor_loss | 1.0000 |
| 1:43166917:AGCCT:A | acceptor_loss | 1.0000 |
| 1:43166918:GCC:G | acceptor_loss | 1.0000 |
| 1:43166919:CCTG:C | acceptor_loss | 1.0000 |
| 1:43166920:C:CC | acceptor_gain | 1.0000 |
| 1:43166920:C:CG | acceptor_loss | 1.0000 |
| 1:43166921:T:A | acceptor_loss | 1.0000 |
| 1:43167155:CCAA:C | donor_loss | 1.0000 |
| 1:43167156:CAA:C | donor_loss | 1.0000 |
| 1:43167157:AAC:A | donor_loss | 1.0000 |
| 1:43167158:ACCT:A | donor_loss | 1.0000 |
| 1:43167159:C:T | donor_loss | 1.0000 |
| 1:43167159:CCTTT:C | donor_gain | 1.0000 |
| 1:43168976:G:C | donor_gain | 1.0000 |
| 1:43169029:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
2005 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:43170777:T:A | K142N | 0.997 |
| 1:43170777:T:G | K142N | 0.997 |
| 1:43170763:A:G | M147T | 0.996 |
| 1:43164769:A:C | F248L | 0.995 |
| 1:43164769:A:T | F248L | 0.995 |
| 1:43164771:A:G | F248L | 0.995 |
| 1:43170783:C:A | M140I | 0.995 |
| 1:43170783:C:G | M140I | 0.995 |
| 1:43170783:C:T | M140I | 0.995 |
| 1:43168967:A:G | L170P | 0.994 |
| 1:43170869:C:G | A112P | 0.994 |
| 1:43168954:C:A | R174S | 0.993 |
| 1:43168954:C:G | R174S | 0.993 |
| 1:43168964:C:G | R171P | 0.993 |
| 1:43170790:G:T | A138E | 0.993 |
| 1:43171491:C:G | R104P | 0.993 |
| 1:43171606:A:G | W66R | 0.993 |
| 1:43171606:A:T | W66R | 0.993 |
| 1:43170792:A:C | F137L | 0.992 |
| 1:43170792:A:T | F137L | 0.992 |
| 1:43170794:A:G | F137L | 0.992 |
| 1:43170762:C:A | M147I | 0.991 |
| 1:43170762:C:G | M147I | 0.991 |
| 1:43170762:C:T | M147I | 0.991 |
| 1:43170778:T:A | K142I | 0.990 |
| 1:43170779:T:C | K142E | 0.990 |
| 1:43164781:T:A | K244N | 0.989 |
| 1:43164781:T:G | K244N | 0.989 |
| 1:43168958:A:G | L173P | 0.989 |
| 1:43169015:A:G | L154P | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000165339 (1:43170516 C>T), RS1001063133 (1:43165994 T>C), RS1001410962 (1:43166274 A>G), RS1001461199 (1:43165203 T>C), RS1001513304 (1:43164719 T>C,G), RS1001855635 (1:43163701 G>T), RS1002075195 (1:43171212 T>C), RS1002415553 (1:43169784 C>T), RS1002518071 (1:43166371 G>A), RS1002747764 (1:43171209 T>C), RS1003136685 (1:43172396 C>A,G), RS1003198743 (1:43173168 C>T), RS1003321053 (1:43164969 A>G), RS1003833059 (1:43166728 T>C), RS1004084840 (1:43174391 A>G)
Disease associations
OMIM: gene MIM:614443 | 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 |
|---|---|---|
| GCST009391_619 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009793 | isoleucine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066269 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.37 | Kd | 43.16 | nM | CHEMBL5653589 |
| 7.37 | ED50 | 43.16 | nM | CHEMBL5653589 |
| 6.53 | Kd | 298.9 | nM | CHEMBL3752910 |
| 6.53 | ED50 | 298.9 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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 | 2148277: Binding affinity to human EBNA1BP2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0432 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148277: Binding affinity to human EBNA1BP2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2989 | uM |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, affects cotreatment | 6 |
| Cyclosporine | decreases expression, increases expression, increases methylation | 3 |
| bisphenol A | decreases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Aflatoxin B1 | affects cotreatment, decreases expression, increases methylation | 2 |
| TAK-243 | increases sumoylation | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | decreases expression | 1 |
| deguelin | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| LDN 193189 | decreases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benztropine | affects cotreatment, decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Cuprizone | decreases expression, affects cotreatment | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Hydrogen Peroxide | 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 |
|---|---|---|---|
| CHEMBL5651319 | Binding | Binding affinity to human EBNA1BP2 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.