BORA
gene geneOn this page
Also known as FLJ22624
Summary
BORA (BORA aurora kinase A activator, HGNC:24724) is a protein-coding gene on chromosome 13q21.33, encoding Protein aurora borealis (Q6PGQ7). Required for the activation of AURKA at the onset of mitosis. It is a selective cancer dependency (DepMap: 79.9% of cell lines).
BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).
Source: NCBI Gene 79866 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 85 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 79.9% of screened cell lines
- MANE Select transcript:
NM_024808
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24724 |
| Approved symbol | BORA |
| Name | BORA aurora kinase A activator |
| Location | 13q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ22624 |
| Ensembl gene | ENSG00000136122 |
| Ensembl biotype | protein_coding |
| OMIM | 610510 |
| Entrez | 79866 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000377814, ENST00000390667, ENST00000464754, ENST00000471712, ENST00000613797, ENST00000618209, ENST00000651376, ENST00000651477, ENST00000652266, ENST00000864459, ENST00000864460, ENST00000864461, ENST00000940591, ENST00000940592
RefSeq mRNA: 4 — MANE Select: NM_024808
NM_001286746, NM_001286747, NM_001366664, NM_024808
CCDS: CCDS66560, CCDS9446
Canonical transcript exons
ENST00000390667 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001612926 | 72753690 | 72753821 |
| ENSE00001695668 | 72745944 | 72746076 |
| ENSE00001766121 | 72746501 | 72747111 |
| ENSE00001789373 | 72744981 | 72745207 |
| ENSE00003502901 | 72744505 | 72744561 |
| ENSE00003506947 | 72743537 | 72743602 |
| ENSE00003522085 | 72731281 | 72731387 |
| ENSE00003622898 | 72737962 | 72738043 |
| ENSE00003671779 | 72727923 | 72728007 |
| ENSE00003687121 | 72734960 | 72735005 |
| ENSE00003847048 | 72728926 | 72729093 |
| ENSE00003895031 | 72755151 | 72756196 |
Expression profiles
Bgee: expression breadth ubiquitous, 211 present calls, max score 90.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8863 / max 198.4478, expressed in 1612 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 135331 | 8.0723 | 1591 |
| 135332 | 0.5981 | 358 |
| 135330 | 0.2159 | 72 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 90.66 | gold quality |
| oocyte | CL:0000023 | 89.47 | gold quality |
| ventricular zone | UBERON:0003053 | 86.85 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.22 | gold quality |
| leukocyte | CL:0000738 | 78.72 | gold quality |
| monocyte | CL:0000576 | 78.63 | gold quality |
| mononuclear cell | CL:0000842 | 78.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 78.39 | gold quality |
| bone marrow | UBERON:0002371 | 78.33 | gold quality |
| rectum | UBERON:0001052 | 78.10 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.90 | gold quality |
| embryo | UBERON:0000922 | 77.83 | gold quality |
| granulocyte | CL:0000094 | 77.70 | gold quality |
| bone marrow cell | CL:0002092 | 76.00 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 75.98 | gold quality |
| colonic mucosa | UBERON:0000317 | 75.87 | gold quality |
| vermiform appendix | UBERON:0001154 | 75.58 | gold quality |
| lymph node | UBERON:0000029 | 75.27 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.85 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 74.59 | gold quality |
| jejunal mucosa | UBERON:0000399 | 74.52 | gold quality |
| calcaneal tendon | UBERON:0003701 | 73.94 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 73.79 | gold quality |
| adrenal tissue | UBERON:0018303 | 73.50 | gold quality |
| duodenum | UBERON:0002114 | 72.84 | gold quality |
| esophagus mucosa | UBERON:0002469 | 72.81 | gold quality |
| colonic epithelium | UBERON:0000397 | 72.69 | gold quality |
| spleen | UBERON:0002106 | 72.62 | gold quality |
| transverse colon | UBERON:0001157 | 72.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.11 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, E2F4
miRNA regulators (miRDB)
59 targeting BORA, 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-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 79.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 13)
- Study concludes that tight regulation of the Bora protein by its synthesis and degradation is critical for cell cycle progression. (PMID:18378770)
- Plk1 controls Aurora A localization and function by regulating cellular levels of hBora. (PMID:18521620)
- study reports that the synergistic action of Bora & the kinase Aurora A controls G2-M transition; Bora accumulates in G2 phase & promotes Aur-A-mediated activation of Polo-like kinase 1, leading to activation of cyclin-dependent kinase 1 & mitotic entry (PMID:18566290)
- Recent advances in the understanding of the functional crosstalk between Plk1 and Aurora-A before and during mitosis. (PMID:19487276)
- Following UV irradiation, ataxia telangiectasia-mutated- and Rad3-related protein phosphorylates Bora at Thr-501. The phosphorylated Thr-501 is subsequently recognized by the E3 ubiquitin ligase SCF-beta-TRCP, which targets Bora for degradation. (PMID:23592782)
- Pin1 acts as a negative regulator of the G2/M transition by interacting with the Aurora-A-Bora complex. (PMID:23970419)
- Activation of Plk1 by Aurora-A may function as a bistable switch (PMID:24338364)
- Bora was found to play a significant role in radiosensitivity through the regulation of MDC1 and DNA repair. (PMID:25742493)
- These results reveal a crucial and conserved role of phosphorylation of the N terminus of Bora for Plk1 activation and mitotic entry. (PMID:27068477)
- the mechanism of Plk1 activation and the potential role of Bora phosphorylation by Cdk1, is reported. (PMID:27831827)
- our findings demonstrated that Bora was overexpressed and served as an independent biomarker for poor prognosis in multiple adenocarcinomas. (PMID:28402276)
- Bora phosphorylation substitutes in trans for T-loop phosphorylation in Aurora A to promote mitotic entry. (PMID:33771996)
- Aurora A kinase activation: Different means to different ends. (PMID:34287649)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bora | ENSDARG00000042688 |
| mus_musculus | Bora | ENSMUSG00000022070 |
| rattus_norvegicus | Bora | ENSRNOG00000024798 |
| drosophila_melanogaster | bora | FBGN0259791 |
| caenorhabditis_elegans | WBGENE00010198 |
Protein
Protein identifiers
Protein aurora borealis — Q6PGQ7 (reviewed: Q6PGQ7)
All UniProt accessions (5): A0A087WV86, A0A087WVC9, A0A494C1R8, Q6PGQ7, H3BLY2
UniProt curated annotations — full annotation on UniProt →
Function. Required for the activation of AURKA at the onset of mitosis.
Subunit / interactions. Interacts with AURKA.
Post-translational modifications. Phosphorylated by AURKA.
Similarity. Belongs to the BORA family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6PGQ7-1 | 1 | yes |
| Q6PGQ7-2 | 2 |
RefSeq proteins (4): NP_001273675, NP_001273676, NP_001353593, NP_079084* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR023252 | Aurora_borealis_protein | Family |
Pfam: PF15280
UniProt features (12 total): modified residue 6, sequence variant 2, chain 1, region of interest 1, sequence conflict 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PGQ7-F1 | 51.50 | 0.02 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 183, 191, 270, 325, 331, 354
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-69273 | Cyclin A/B1/B2 associated events during G2/M transition |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-453274 | Mitotic G2-G2/M phases |
| R-HSA-69275 | G2/M Transition |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 160 (showing top):
chr13q21, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_SPINDLE_ORGANIZATION, PID_PLK1_PATHWAY, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_MITOTIC_CELL_CYCLE, P300_01, FISCHER_DREAM_TARGETS, BASAKI_YBX1_TARGETS_UP, TAATGTG_MIR323, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS
GO Biological Process (4): regulation of mitotic nuclear division (GO:0007088), regulation of protein localization (GO:0032880), cell division (GO:0051301), regulation of mitotic spindle organization (GO:0060236)
GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), meiotic spindle (GO:0072687)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 2 |
| Cell Cycle, Mitotic | 1 |
| Mitotic G2-G2/M phases | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| regulation of mitotic cell cycle | 1 |
| regulation of cell cycle process | 1 |
| regulation of nuclear division | 1 |
| mitotic nuclear division | 1 |
| intracellular protein localization | 1 |
| regulation of localization | 1 |
| cellular process | 1 |
| mitotic spindle organization | 1 |
| regulation of spindle organization | 1 |
| kinase binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| spindle | 1 |
Protein interactions and networks
STRING
1221 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BORA | AURKA | O14965 | 890 |
| BORA | PLK1 | P53350 | 809 |
| BORA | CDK1 | P06493 | 741 |
| BORA | NEDD9 | Q14511 | 706 |
| BORA | AJUBA | Q96IF1 | 660 |
| BORA | ECT2 | Q9H8V3 | 632 |
| BORA | TPX2 | Q9ULW0 | 624 |
| BORA | PIBF1 | Q8WXW3 | 602 |
| BORA | MZT1 | Q08AG7 | 602 |
| BORA | CLSPN | Q9HAW4 | 573 |
| BORA | RACGAP1 | Q9H0H5 | 564 |
| BORA | AURKB | Q96GD4 | 541 |
| BORA | NDEL1 | Q9GZM8 | 540 |
| BORA | MAP2 | P11137 | 522 |
| BORA | CCNB1 | P14635 | 519 |
IntAct
70 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLK1 | BORA | psi-mi:“MI:0915”(physical association) | 0.850 |
| DNAJB11 | HSPA5 | psi-mi:“MI:0914”(association) | 0.830 |
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| AURKA | BORA | psi-mi:“MI:0915”(physical association) | 0.660 |
| BORA | AURKA | psi-mi:“MI:0217”(phosphorylation reaction) | 0.660 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| PLK1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.560 |
| RABGGTB | PIPSL | psi-mi:“MI:0914”(association) | 0.530 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| WNT4 | TOMM40 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE3D | STIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| SKP2 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| DYNLT2B | SNX2 | psi-mi:“MI:0914”(association) | 0.530 |
| WNT7A | LDLR | psi-mi:“MI:0914”(association) | 0.530 |
| PLK1 | PPP6C | psi-mi:“MI:0914”(association) | 0.530 |
| FZR1 | TK1 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKA | PLK1 | psi-mi:“MI:0914”(association) | 0.520 |
| Plk1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| BORA | OBI1 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (85): BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), PIBF1 (Affinity Capture-MS), NGDN (Affinity Capture-MS), RNF219 (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS), BORA (Affinity Capture-MS)
ESM2 similar proteins: A0JMF7, A2ARZ3, A5WUN7, A6H5Y1, A8PUI7, B0BM16, B1H1S4, B2GUZ2, F1QB81, F1R983, P10243, P51960, P52550, P86345, Q06190, Q08AD1, Q12912, Q16533, Q2T9I9, Q3KQW7, Q3T8J9, Q49A88, Q4KLP8, Q4R815, Q58EL7, Q5FBB7, Q5M864, Q5U3U6, Q5XG21, Q65Z40, Q66H35, Q68F53, Q6DJL7, Q6IRN6, Q6PGQ7, Q7Z5K2, Q7ZX27, Q801E2, Q80WQ8, Q8AXF4
Diamond homologs: Q5M864, Q5U3U6, Q6DJL7, Q6PGQ7, Q8BS90, Q9VVR2, Q2LYY4
SIGNOR signaling
10 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| BORA | up-regulates | AURKA | binding |
| PLK1 | down-regulates | BORA | phosphorylation |
| CyclinB/CDK1 | “up-regulates activity” | BORA | phosphorylation |
| BORA | up-regulates | PLK1 | phosphorylation |
| GSK3B | up-regulates | BORA | phosphorylation |
| CyclinA2/CDK1 | “up-regulates activity” | BORA | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 394318 | GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1 | Pathogenic |
SpliceAI
1797 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:72728923:TA:T | acceptor_loss | 1.0000 |
| 13:72728924:A:AG | acceptor_gain | 1.0000 |
| 13:72728924:A:C | acceptor_loss | 1.0000 |
| 13:72728925:G:GA | acceptor_gain | 1.0000 |
| 13:72728925:GT:G | acceptor_gain | 1.0000 |
| 13:72728925:GTT:G | acceptor_gain | 1.0000 |
| 13:72728925:GTTT:G | acceptor_gain | 1.0000 |
| 13:72728925:GTTTT:G | acceptor_gain | 1.0000 |
| 13:72728990:G:GT | donor_gain | 1.0000 |
| 13:72729094:G:GG | donor_gain | 1.0000 |
| 13:72734959:GAATA:G | acceptor_gain | 1.0000 |
| 13:72737960:A:AG | acceptor_gain | 1.0000 |
| 13:72737961:G:GG | acceptor_gain | 1.0000 |
| 13:72745110:G:GT | donor_gain | 1.0000 |
| 13:72745110:G:T | donor_gain | 1.0000 |
| 13:72753684:T:TA | acceptor_gain | 1.0000 |
| 13:72753687:CA:C | acceptor_loss | 1.0000 |
| 13:72753688:A:AG | acceptor_gain | 1.0000 |
| 13:72753688:AGAT:A | acceptor_gain | 1.0000 |
| 13:72753688:AGATG:A | acceptor_gain | 1.0000 |
| 13:72753689:G:GT | acceptor_gain | 1.0000 |
| 13:72753689:GA:G | acceptor_gain | 1.0000 |
| 13:72753689:GAT:G | acceptor_gain | 1.0000 |
| 13:72753689:GATG:G | acceptor_gain | 1.0000 |
| 13:72753689:GATGG:G | acceptor_gain | 1.0000 |
| 13:72753820:AGG:A | donor_loss | 1.0000 |
| 13:72753821:GGTAC:G | donor_loss | 1.0000 |
| 13:72753822:G:A | donor_loss | 1.0000 |
| 13:72753823:T:A | donor_loss | 1.0000 |
| 13:72728008:G:GG | donor_gain | 0.9900 |
AlphaMissense
3741 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:72731299:T:A | W58R | 0.999 |
| 13:72731299:T:C | W58R | 0.999 |
| 13:72737962:T:C | F103L | 0.998 |
| 13:72737964:T:A | F103L | 0.998 |
| 13:72737964:T:G | F103L | 0.998 |
| 13:72737963:T:C | F103S | 0.997 |
| 13:72737995:T:A | W114R | 0.997 |
| 13:72737995:T:C | W114R | 0.997 |
| 13:72745051:A:C | R194S | 0.997 |
| 13:72745051:A:T | R194S | 0.997 |
| 13:72737965:T:C | F104L | 0.996 |
| 13:72737967:C:A | F104L | 0.996 |
| 13:72737967:C:G | F104L | 0.996 |
| 13:72745050:G:C | R194T | 0.996 |
| 13:72731293:T:C | F56L | 0.995 |
| 13:72731295:T:A | F56L | 0.995 |
| 13:72731295:T:G | F56L | 0.995 |
| 13:72731301:G:C | W58C | 0.995 |
| 13:72731301:G:T | W58C | 0.995 |
| 13:72731315:T:C | L63P | 0.995 |
| 13:72734994:G:C | A99P | 0.995 |
| 13:72734998:T:A | I100N | 0.995 |
| 13:72737966:T:C | F104S | 0.995 |
| 13:72745047:G:C | R193T | 0.995 |
| 13:72745048:A:C | R193S | 0.995 |
| 13:72745048:A:T | R193S | 0.995 |
| 13:72745050:G:T | R194I | 0.995 |
| 13:72745056:T:C | L196P | 0.995 |
| 13:72729013:T:C | F25L | 0.994 |
| 13:72729015:T:A | F25L | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000104366 (13:72751810 T>C), RS1000158630 (13:72754915 T>C,G), RS1000368767 (13:72729530 C>A,T), RS1000480381 (13:72748584 T>G), RS1000495450 (13:72756482 C>T), RS1000854631 (13:72743370 G>C), RS1000939267 (13:72755452 T>A,C), RS1000967028 (13:72743093 C>T), RS1001013345 (13:72728397 T>C), RS1001129843 (13:72736144 C>G), RS1001235073 (13:72751137 TA>T), RS1001269340 (13:72751507 A>G), RS1001376519 (13:72749417 G>A), RS1001417186 (13:72736454 A>G), RS1001430105 (13:72737229 G>A)
Disease associations
OMIM: gene MIM:610510 | 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 |
|---|---|---|
| GCST90002396_551 | Mean reticulocyte volume | 5.000000e-19 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
58 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression | 3 |
| Resveratrol | affects cotreatment, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cyclosporine | increases expression, affects expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| lasiocarpine | decreases expression, increases metabolic processing | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| riddelliine | decreases expression, increases metabolic processing | 1 |
| sulforaphane | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| palbociclib | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| NSC668394 | decreases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
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.