FUBP3
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Summary
FUBP3 (far upstream element binding protein 3, HGNC:4005) is a protein-coding gene on chromosome 9q34.11-q34.12, encoding Far upstream element-binding protein 3 (Q96I24). May interact with single-stranded DNA from the far-upstream element (FUSE).
Enables single-stranded DNA binding activity. Involved in DNA-templated transcription; positive regulation of DNA-templated transcription; and positive regulation of gene expression. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus.
Source: NCBI Gene 8939 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 87 total
- Druggable target: yes
- MANE Select transcript:
NM_003934
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4005 |
| Approved symbol | FUBP3 |
| Name | far upstream element binding protein 3 |
| Location | 9q34.11-q34.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000107164 |
| Ensembl biotype | protein_coding |
| OMIM | 603536 |
| Entrez | 8939 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 16 protein_coding, 5 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000319725, ENST00000465949, ENST00000467100, ENST00000472006, ENST00000487406, ENST00000492199, ENST00000650723, ENST00000699747, ENST00000863494, ENST00000863495, ENST00000863496, ENST00000863497, ENST00000863498, ENST00000863499, ENST00000936134, ENST00000936135, ENST00000936136, ENST00000936137, ENST00000964142, ENST00000964143, ENST00000964144, ENST00000964145, ENST00000964146
RefSeq mRNA: 1 — MANE Select: NM_003934
NM_003934
CCDS: CCDS43893
Canonical transcript exons
ENST00000319725 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000868110 | 130617797 | 130617895 |
| ENSE00000868111 | 130620354 | 130620458 |
| ENSE00000984581 | 130634667 | 130634738 |
| ENSE00001142533 | 130616355 | 130616517 |
| ENSE00001142545 | 130612956 | 130613027 |
| ENSE00001142682 | 130637014 | 130638352 |
| ENSE00001325924 | 130614288 | 130614345 |
| ENSE00001809698 | 130579577 | 130579764 |
| ENSE00003277251 | 130632202 | 130632278 |
| ENSE00003474044 | 130635999 | 130636126 |
| ENSE00003510910 | 130623611 | 130623711 |
| ENSE00003524972 | 130612456 | 130612505 |
| ENSE00003543965 | 130631557 | 130631630 |
| ENSE00003589683 | 130631942 | 130632022 |
| ENSE00003599527 | 130622708 | 130622810 |
| ENSE00003653985 | 130609954 | 130609987 |
| ENSE00003656711 | 130626364 | 130626505 |
| ENSE00003664435 | 130630628 | 130630788 |
| ENSE00003666938 | 130595483 | 130595588 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 95.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.3119 / max 177.2784, expressed in 1822 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99024 | 32.3119 | 1822 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of uterus | UBERON:0009853 | 95.83 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.81 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.67 | gold quality |
| thyroid gland | UBERON:0002046 | 95.22 | gold quality |
| left ovary | UBERON:0002119 | 94.77 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.72 | gold quality |
| right ovary | UBERON:0002118 | 94.71 | gold quality |
| endocervix | UBERON:0000458 | 94.56 | gold quality |
| left uterine tube | UBERON:0001303 | 94.29 | gold quality |
| ventricular zone | UBERON:0003053 | 94.24 | gold quality |
| ectocervix | UBERON:0012249 | 94.18 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.15 | gold quality |
| popliteal artery | UBERON:0002250 | 94.12 | gold quality |
| tibial artery | UBERON:0007610 | 94.12 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.12 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.06 | gold quality |
| lower esophagus | UBERON:0013473 | 94.05 | gold quality |
| penis | UBERON:0000989 | 94.02 | gold quality |
| aorta | UBERON:0000947 | 93.95 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.95 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.94 | gold quality |
| right uterine tube | UBERON:0001302 | 93.91 | gold quality |
| tibial nerve | UBERON:0001323 | 93.77 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.76 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.74 | gold quality |
| ovary | UBERON:0000992 | 93.69 | gold quality |
| ascending aorta | UBERON:0001496 | 93.69 | gold quality |
| vagina | UBERON:0000996 | 93.68 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.53 | gold quality |
| right coronary artery | UBERON:0001625 | 93.50 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.75 |
| E-MTAB-10290 | no | 70.60 |
| E-HCAD-5 | no | 2.24 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| FGF9 | Unknown |
| MYC | Activation |
miRNA regulators (miRDB)
113 targeting FUBP3, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
Literature-anchored findings (GeneRIF, showing 4)
- study found that FBP1 as well as FBP3 are more frequently expressed in prostate and bladder cancer than in renal cancer; in addition, a positive correlation between levels of FBP1, FBP3 and c-Myc was exclusively detectable in renal cell carcinomas (PMID:19087307)
- The redistribution of FBP3 in subcellular compartments was observed after Enterovirus 71 (EV71) infection, and the decreased expression of FBP3 in host neuronal cells markedly inhibited viral replication. The results reveal various host proteins that potentially interact with the EV71 5’UTR in neuronal cells, and study found that FBP3 could serve as a positive regulator in host cells. (PMID:27291656)
- Long noncoding RNA CMPK2 promotes colorectal cancer progression by activating the FUBP3-c-Myc axis. (PMID:32203166)
- FUBP3 regulates chronic myeloid leukaemia progression through PRC2 complex regulated PAK1-ERK signalling. (PMID:36478132)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fubp3 | ENSDARG00000086896 |
| mus_musculus | Fubp3 | ENSMUSG00000026843 |
| rattus_norvegicus | Fubp3 | ENSRNOG00000009139 |
| drosophila_melanogaster | ps | FBGN0261552 |
| drosophila_melanogaster | mub | FBGN0262737 |
| drosophila_melanogaster | Imp | FBGN0285926 |
| caenorhabditis_elegans | WBGENE00003978 | |
| caenorhabditis_elegans | WBGENE00010908 | |
| caenorhabditis_elegans | WBGENE00013347 | |
| caenorhabditis_elegans | WBGENE00016489 | |
| caenorhabditis_elegans | fubl-4 | WBGENE00019692 |
Paralogs (12): IGF2BP2 (ENSG00000073792), KHSRP (ENSG00000088247), PCBP4 (ENSG00000090097), NOVA2 (ENSG00000104967), IGF2BP3 (ENSG00000136231), NOVA1 (ENSG00000139910), IGF2BP1 (ENSG00000159217), FUBP1 (ENSG00000162613), HNRNPK (ENSG00000165119), PCBP1 (ENSG00000169564), PCBP3 (ENSG00000183570), PCBP2 (ENSG00000197111)
Protein
Protein identifiers
Far upstream element-binding protein 3 — Q96I24 (reviewed: Q96I24)
All UniProt accessions (3): Q96I24, A0A494C1K6, A0A8V8TNQ2
UniProt curated annotations — full annotation on UniProt →
Function. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression.
Subcellular location. Nucleus.
Tissue specificity. Detected in a number of cell lines.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96I24-1 | 1 | yes |
| Q96I24-2 | 2 |
RefSeq proteins (1): NP_003925* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004087 | KH_dom | Domain |
| IPR004088 | KH_dom_type_1 | Domain |
| IPR036612 | KH_dom_type_1_sf | Homologous_superfamily |
Pfam: PF00013
UniProt features (18 total): modified residue 5, domain 4, cross-link 2, splice variant 2, initiator methionine 1, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96I24-F1 | 66.40 | 0.23 |
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 (7): 296, 539, 569, 15, 57, 2, 76
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 116 (showing top):
LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, XU_RESPONSE_TO_TRETINOIN_DN, MORF_PPP6C, GARY_CD5_TARGETS_DN, SCHLOSSER_SERUM_RESPONSE_DN, GOCC_NEURON_PROJECTION, DORN_ADENOVIRUS_INFECTION_32HR_DN, MODULE_277, GOBP_RNA_LOCALIZATION, GOMF_SINGLE_STRANDED_DNA_BINDING, GOCC_RIBOSOME, NUYTTEN_EZH2_TARGETS_DN, GOCC_DENDRITIC_SHAFT, GOCC_CELL_BODY, GOCC_SOMATODENDRITIC_COMPARTMENT
GO Biological Process (6): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), intracellular mRNA localization (GO:0008298), positive regulation of gene expression (GO:0010628), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (6): single-stranded DNA binding (GO:0003697), RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), ribosome (GO:0005840), membrane (GO:0016020), neuronal cell body (GO:0043025), dendritic shaft (GO:0043198)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| gene expression | 2 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| nucleic acid binding | 2 |
| binding | 2 |
| RNA biosynthetic process | 1 |
| RNA localization | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| DNA binding | 1 |
| RNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| dendrite | 1 |
Protein interactions and networks
STRING
1680 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FUBP3 | FBP1 | P09467 | 886 |
| FUBP3 | HNRNPF | P52597 | 818 |
| FUBP3 | PUF60 | Q9UHX1 | 683 |
| FUBP3 | AIMP2 | Q13155 | 551 |
| FUBP3 | MYC | P01106 | 507 |
| FUBP3 | PARN | O95453 | 497 |
| FUBP3 | IMP3 | Q9NV31 | 495 |
| FUBP3 | KHDC4 | Q7Z7F0 | 473 |
| FUBP3 | HNRNPM | P52272 | 458 |
| FUBP3 | XRN2 | Q9H0D6 | 458 |
| FUBP3 | CPZ | Q66K79 | 445 |
| FUBP3 | HNRNPK | P61978 | 441 |
| FUBP3 | MATR3 | P43243 | 433 |
| FUBP3 | TMEM64 | Q6YI46 | 427 |
| FUBP3 | RRM1 | P23921 | 424 |
IntAct
137 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GDI1 | RAB4A | psi-mi:“MI:0914”(association) | 0.820 |
| FUBP3 | QKI | psi-mi:“MI:0915”(physical association) | 0.740 |
| QKI | FUBP3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SAV1 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.570 |
| CDK18 | UBL4A | psi-mi:“MI:0914”(association) | 0.530 |
| FOXP3 | FOXP2 | psi-mi:“MI:0914”(association) | 0.530 |
| BCOR | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| PAX9 | FUBP3 | psi-mi:“MI:0915”(physical association) | 0.520 |
| FMR1 | ACOT7 | psi-mi:“MI:0914”(association) | 0.500 |
| KIF1C | KIF1B | psi-mi:“MI:2364”(proximity) | 0.480 |
| steC | SCD | psi-mi:“MI:0914”(association) | 0.460 |
| FUBP3 | GRB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| FUBP3 | ORF20 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| FUBP3 | E7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FUBP3 | QKI | psi-mi:“MI:0915”(physical association) | 0.370 |
| SSX1 | FUBP3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| XBP1 | FUBP3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATXN1 | FUBP3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| Akap8 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| MATR3 | BCLAF3 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| SEC16A | NCOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| KIF21B | psi-mi:“MI:0914”(association) | 0.350 | |
| RHOA | SYNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (405): QKI (Two-hybrid), FUBP3 (Affinity Capture-MS), FUBP3 (Affinity Capture-MS), FUBP3 (Affinity Capture-MS), FUBP3 (Affinity Capture-MS), FUBP3 (Affinity Capture-MS), FUBP3 (Affinity Capture-MS), CTSD (Co-fractionation), FUBP3 (Co-fractionation), FUBP3 (Co-fractionation), FUBP3 (Co-fractionation), FUBP3 (Co-fractionation), FUBP3 (Co-fractionation), NDUFS4 (Co-fractionation), NQO1 (Co-fractionation)
ESM2 similar proteins: A0A1W2P872, A1L1C7, A4IIM2, B2RYD2, F1LQ48, O57406, O88532, O95319, P14866, P28659, P51513, P57723, P57724, Q28HE9, Q2PFW9, Q32PX7, Q3U0V1, Q3US41, Q4QQT3, Q4R535, Q58A45, Q5F3T7, Q5NVC8, Q5R8Y8, Q5R995, Q5U231, Q640Q5, Q6DGV1, Q6GPM1, Q6NXG1, Q6P0B1, Q6PF35, Q792H5, Q7T2T1, Q7TSY6, Q7ZXE2, Q80WA4, Q8R081, Q8UVD9, Q91WJ8
Diamond homologs: A0A0B4KGY6, A0A1W2P872, O19048, O19049, O73932, O74919, P51513, P57721, P57722, P60335, P61978, P61979, P61980, Q15365, Q15366, Q2PFW9, Q32PX7, Q3T0D0, Q4R4M6, Q5E9A3, Q5R5H8, Q5RB68, Q5SF07, Q5ZIQ3, Q5ZLP8, Q61990, Q80WA4, Q8UVD9, Q91WJ8, Q96AE4, Q96I24, Q9JKN6, Q9LZ82, Q9SZH4, Q9UNW9, Q9Y6M1, F4KDN0, Q3U0V1, Q86XN8, Q92945
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 158 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| mRNA 3’-end processing | 7 | 13.2× | 6e-04 |
| mRNA Polyadenylation | 9 | 7.6× | 6e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 8 | 6.3× | 5e-03 |
| Dengue Virus-Host Interactions | 12 | 5.3× | 6e-04 |
| mRNA Splicing - Major Pathway | 10 | 5.2× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA stabilization | 6 | 16.0× | 6e-04 |
| negative regulation of translation | 10 | 14.3× | 2e-06 |
| mRNA transport | 7 | 13.4× | 5e-04 |
| anatomical structure morphogenesis | 8 | 8.1× | 1e-03 |
| mRNA processing | 11 | 6.3× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3651 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:130579762:CAGG:C | donor_loss | 1.0000 |
| 9:130579764:GGT:G | donor_loss | 1.0000 |
| 9:130579765:GT:G | donor_loss | 1.0000 |
| 9:130579766:T:A | donor_loss | 1.0000 |
| 9:130595586:GAGGT:G | donor_loss | 1.0000 |
| 9:130595589:GTAA:G | donor_loss | 1.0000 |
| 9:130595590:T:A | donor_loss | 1.0000 |
| 9:130612504:TA:T | donor_gain | 1.0000 |
| 9:130612506:G:GG | donor_gain | 1.0000 |
| 9:130612951:TTCA:T | acceptor_loss | 1.0000 |
| 9:130612952:TCA:T | acceptor_loss | 1.0000 |
| 9:130612953:CA:C | acceptor_loss | 1.0000 |
| 9:130612954:A:AG | acceptor_gain | 1.0000 |
| 9:130612955:G:GA | acceptor_gain | 1.0000 |
| 9:130612955:GT:G | acceptor_gain | 1.0000 |
| 9:130612955:GTT:G | acceptor_gain | 1.0000 |
| 9:130613023:TTCAG:T | donor_loss | 1.0000 |
| 9:130613024:TCAGG:T | donor_loss | 1.0000 |
| 9:130613025:CAGGT:C | donor_loss | 1.0000 |
| 9:130613026:AGGT:A | donor_loss | 1.0000 |
| 9:130613027:GGTA:G | donor_loss | 1.0000 |
| 9:130613029:T:A | donor_loss | 1.0000 |
| 9:130614287:GAGA:G | acceptor_gain | 1.0000 |
| 9:130614344:GA:G | donor_gain | 1.0000 |
| 9:130614346:G:GG | donor_gain | 1.0000 |
| 9:130617792:CACAG:C | acceptor_loss | 1.0000 |
| 9:130617794:CAG:C | acceptor_loss | 1.0000 |
| 9:130617795:A:AG | acceptor_gain | 1.0000 |
| 9:130617795:AG:A | acceptor_gain | 1.0000 |
| 9:130617796:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
3764 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:130612497:T:A | V89D | 1.000 |
| 9:130612499:G:A | G90R | 1.000 |
| 9:130612499:G:C | G90R | 1.000 |
| 9:130612500:G:A | G90E | 1.000 |
| 9:130612956:T:A | I92N | 1.000 |
| 9:130612959:T:A | I93N | 1.000 |
| 9:130612961:G:C | G94R | 1.000 |
| 9:130612962:G:A | G94D | 1.000 |
| 9:130612962:G:T | G94V | 1.000 |
| 9:130612971:G:A | G97D | 1.000 |
| 9:130612980:T:A | I100N | 1.000 |
| 9:130612980:T:G | I100S | 1.000 |
| 9:130612992:A:C | Q104P | 1.000 |
| 9:130613000:T:C | S107P | 1.000 |
| 9:130613006:T:C | C109R | 1.000 |
| 9:130613007:G:A | C109Y | 1.000 |
| 9:130613008:C:G | C109W | 1.000 |
| 9:130613013:T:A | I111N | 1.000 |
| 9:130613013:T:G | I111S | 1.000 |
| 9:130614309:G:C | R123T | 1.000 |
| 9:130614309:G:T | R123M | 1.000 |
| 9:130614310:G:C | R123S | 1.000 |
| 9:130614310:G:T | R123S | 1.000 |
| 9:130614314:T:C | C125R | 1.000 |
| 9:130614316:T:G | C125W | 1.000 |
| 9:130614321:T:A | L127H | 1.000 |
| 9:130614321:T:C | L127P | 1.000 |
| 9:130614321:T:G | L127R | 1.000 |
| 9:130614326:G:A | G129R | 1.000 |
| 9:130614326:G:C | G129R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006511 (9:130621920 A>G), RS1000007291 (9:130629444 G>A), RS1000022754 (9:130634645 T>C,G), RS1000027999 (9:130589216 T>C), RS1000045265 (9:130595664 C>G), RS1000065954 (9:130627641 G>A,T), RS1000074901 (9:130620606 G>T), RS1000080239 (9:130629627 A>G), RS1000150022 (9:130589375 G>A), RS1000173522 (9:130616432 A>G), RS1000189687 (9:130601190 G>A), RS1000203257 (9:130605419 C>T), RS1000220033 (9:130611248 G>A), RS1000269669 (9:130607577 CATCTGCCTCCTTAGTGTG>C), RS1000275303 (9:130605781 T>C,G)
Disease associations
OMIM: gene MIM:603536 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000176_5 | Height | 8.000000e-07 |
| GCST000817_177 | Height | 3.000000e-17 |
| GCST001956_30 | Height | 2.000000e-10 |
| GCST002492_4 | Bone mineral density (paediatric, lower limb) | 5.000000e-06 |
| GCST002492_5 | Bone mineral density (paediatric, lower limb) | 2.000000e-08 |
| GCST002494_4 | Bone mineral density (paediatric, total body less head) | 3.000000e-08 |
| GCST002647_33 | Height | 1.000000e-27 |
| GCST005795_28 | Femoral neck bone mineral density | 2.000000e-08 |
| GCST006423_9 | Fracture | 5.000000e-19 |
| GCST007485_7 | Anthropometric traits | 2.000000e-29 |
| GCST007490_18 | Anthropometric traits (multi-trait analysis) | 6.000000e-17 |
| GCST007691_16 | Femoral neck bone mineral density | 3.000000e-22 |
| GCST008059_227 | Estimated glomerular filtration rate | 5.000000e-07 |
| GCST008163_208 | Height | 2.000000e-07 |
| GCST008839_9 | Height | 8.000000e-28 |
| GCST90000025_382 | Appendicular lean mass | 1.000000e-13 |
| GCST90011900_210 | Serum alkaline phosphatase levels | 2.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0004324 | body weights and measures |
| EFO:0004980 | appendicular lean mass |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067301 (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 |
|---|---|---|---|---|
| 5.51 | Kd | 3073 | nM | CHEMBL5653589 |
| 5.51 | ED50 | 3073 | 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 | 2148403: Binding affinity to human FUBP3 incubated for 45 mins by Kinobead based pull down assay | kd | 3.0731 | uM |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | decreases expression | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| TAK-243 | decreases sumoylation | 1 |
| urushiol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | increases expression | 1 |
| cyclic 3’,5’-uridine monophosphate | affects binding | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | increases secretion, affects cotreatment | 1 |
| bisphenol B | increases expression | 1 |
| bromovanin | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dactinomycin | increases secretion, affects cotreatment | 1 |
| Doxorubicin | affects expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 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 |
|---|---|---|---|
| CHEMBL5651445 | Binding | Binding affinity to human FUBP3 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 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1XV | HAP1 FUBP3 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bone fracture