ABCF3
gene geneOn this page
Also known as EST201864
Summary
ABCF3 (ATP binding cassette subfamily F member 3, HGNC:72) is a protein-coding gene on chromosome 3q27.1, encoding ATP-binding cassette sub-family F member 3 (Q9NUQ8). Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B.
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 55324 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 139 total
- MANE Select transcript:
NM_018358
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:72 |
| Approved symbol | ABCF3 |
| Name | ATP binding cassette subfamily F member 3 |
| Location | 3q27.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EST201864 |
| Ensembl gene | ENSG00000161204 |
| Ensembl biotype | protein_coding |
| OMIM | 618967 |
| Entrez | 55324 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 15 retained_intron, 11 protein_coding, 1 nonsense_mediated_decay
ENST00000292808, ENST00000421340, ENST00000429586, ENST00000463685, ENST00000466416, ENST00000466742, ENST00000468892, ENST00000471226, ENST00000472608, ENST00000473311, ENST00000475728, ENST00000478288, ENST00000480539, ENST00000480562, ENST00000481116, ENST00000485921, ENST00000489719, ENST00000498136, ENST00000874864, ENST00000874865, ENST00000874866, ENST00000874867, ENST00000939999, ENST00000940000, ENST00000971452, ENST00000971453, ENST00000971454
RefSeq mRNA: 4 — MANE Select: NM_018358
NM_001351298, NM_001351299, NM_001351300, NM_018358
CCDS: CCDS3254, CCDS87173
Canonical transcript exons
ENST00000429586 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001302698 | 184193540 | 184194005 |
| ENSE00001902109 | 184186199 | 184186280 |
| ENSE00003469097 | 184192601 | 184192689 |
| ENSE00003475451 | 184189255 | 184189277 |
| ENSE00003484525 | 184189388 | 184189443 |
| ENSE00003515334 | 184187397 | 184187443 |
| ENSE00003524470 | 184188141 | 184188407 |
| ENSE00003537133 | 184187861 | 184187983 |
| ENSE00003541071 | 184192805 | 184192896 |
| ENSE00003566093 | 184187664 | 184187761 |
| ENSE00003569811 | 184186507 | 184186654 |
| ENSE00003573866 | 184190999 | 184191043 |
| ENSE00003578096 | 184189855 | 184189931 |
| ENSE00003619121 | 184186796 | 184186875 |
| ENSE00003627476 | 184193102 | 184193234 |
| ENSE00003641600 | 184188929 | 184188988 |
| ENSE00003642918 | 184191123 | 184191255 |
| ENSE00003648406 | 184189088 | 184189144 |
| ENSE00003669034 | 184193365 | 184193452 |
| ENSE00003672091 | 184188761 | 184188841 |
| ENSE00003673723 | 184189557 | 184189757 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 98.43.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.7464 / max 108.5483, expressed in 1818 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 40147 | 27.7464 | 1818 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 98.43 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.43 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.08 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.04 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.46 | gold quality |
| adrenal gland | UBERON:0002369 | 97.23 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.62 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.55 | gold quality |
| apex of heart | UBERON:0002098 | 96.19 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.09 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.57 | gold quality |
| body of pancreas | UBERON:0001150 | 95.52 | gold quality |
| right ovary | UBERON:0002118 | 95.44 | gold quality |
| left ovary | UBERON:0002119 | 95.42 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.34 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.27 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.07 | gold quality |
| granulocyte | CL:0000094 | 94.96 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.94 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.89 | gold quality |
| pituitary gland | UBERON:0000007 | 94.68 | gold quality |
| cerebellum | UBERON:0002037 | 94.63 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.53 | gold quality |
| right uterine tube | UBERON:0001302 | 94.50 | gold quality |
| body of stomach | UBERON:0001161 | 94.48 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.43 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.42 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.31 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.22 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.21 |
| E-MTAB-4850 | no | 678.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting ABCF3, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-4524A-5P | 99.57 | 71.73 | 1193 |
| HSA-MIR-4524B-5P | 99.57 | 71.68 | 1195 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-3944-5P | 98.50 | 67.55 | 997 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-4665-5P | 97.91 | 67.69 | 1536 |
| HSA-MIR-503-5P | 97.87 | 66.83 | 575 |
| HSA-MIR-6793-3P | 97.66 | 65.78 | 1084 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
Literature-anchored findings (GeneRIF, showing 1)
- hABCF3 positively regulates cell proliferation, at least partially through the interaction with a tumor protein D52 protein family member: TPD52L2. (PMID:24052230)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | abcf3 | ENSDARG00000089705 |
| mus_musculus | Abcf3 | ENSMUSG00000003234 |
| rattus_norvegicus | Abcf3 | ENSRNOG00000001710 |
| drosophila_melanogaster | CG9330 | FBGN0036888 |
| caenorhabditis_elegans | WBGENE00018339 |
Paralogs (2): ABCF2 (ENSG00000033050), ABCF1 (ENSG00000204574)
Protein
Protein identifiers
ATP-binding cassette sub-family F member 3 — Q9NUQ8 (reviewed: Q9NUQ8)
All UniProt accessions (3): A0A0S2Z5L1, Q9NUQ8, F8WCU6
UniProt curated annotations — full annotation on UniProt →
Function. Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B.
Similarity. Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NUQ8-1 | 1 | yes |
| Q9NUQ8-2 | 2 |
RefSeq proteins (4): NP_001338227, NP_001338228, NP_001338229, NP_060828* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003439 | ABC_transporter-like_ATP-bd | Domain |
| IPR003593 | AAA+_ATPase | Domain |
| IPR017871 | ABC_transporter-like_CS | Conserved_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR032781 | ABC_tran_Xtn | Domain |
| IPR050611 | ABCF | Family |
| IPR058770 | PWI_ABCF3 | Domain |
Pfam: PF00005, PF12848, PF26051
UniProt features (21 total): modified residue 6, sequence conflict 3, sequence variant 2, domain 2, compositionally biased region 2, binding site 2, initiator methionine 1, chain 1, splice variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NUQ8-F1 | 81.77 | 0.28 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (2): 210–217; 525–532
Post-translational modifications (6): 83, 155, 157, 161, 283, 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 96 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, AP1_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, TGACCTY_ERR1_Q2, AP1_Q4_01, TGCTGAY_UNKNOWN, BACH2_01, E4F1_Q6, TGANTCA_AP1_C, GOBP_DEFENSE_RESPONSE_TO_VIRUS, NFE2_01, GOBP_RESPONSE_TO_VIRUS, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, WANG_TUMOR_INVASIVENESS_UP
GO Biological Process (1): defense response to virus (GO:0051607)
GO Molecular Function (5): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), cadherin binding (GO:0045296), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| defense response | 1 |
| response to virus | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| ATP-dependent activity | 1 |
| cell adhesion molecule binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
3486 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ABCF3 | GCN1 | Q92616 | 782 |
| ABCF3 | ABCD4 | O14678 | 666 |
| ABCF3 | ABCB9 | Q9NP78 | 607 |
| ABCF3 | ABCC5 | O15440 | 597 |
| ABCF3 | ABCG4 | Q9H172 | 586 |
| ABCF3 | ABCB6 | Q9NP58 | 575 |
| ABCF3 | ABCC6 | P78420 | 551 |
| ABCF3 | ABCA5 | Q8WWZ7 | 551 |
| ABCF3 | ABCA10 | Q8WWZ4 | 528 |
| ABCF3 | TAP1 | Q03518 | 526 |
| ABCF3 | ABCE1 | P61221 | 518 |
| ABCF3 | ABCG8 | Q9H221 | 475 |
| ABCF3 | CFAP99 | D6REC4 | 475 |
| ABCF3 | ABCG5 | Q9H222 | 472 |
| ABCF3 | ABCA6 | Q8N139 | 462 |
IntAct
117 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM27 | ABCF3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ABCF3 | TRIM27 | psi-mi:“MI:0915”(physical association) | 0.780 |
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ABCF3 | FCHSD2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| FCHSD2 | ABCF3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ABCF3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ABCF3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| ASB6 | POLR2D | psi-mi:“MI:0914”(association) | 0.530 |
| HUS1B | RAD1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SKA2 | VSIG8 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| PIP5KL1 | ABCF3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ABCF3 | CCDC33 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Skp1 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R1A | INTS2 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA5 | NCOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXL1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (137): ABCF3 (Two-hybrid), ABCF3 (Two-hybrid), CCDC33 (Two-hybrid), ABCF3 (Affinity Capture-RNA), ABCF3 (Affinity Capture-RNA), ABCF3 (Affinity Capture-MS), ABCF2 (Co-fractionation), ABCF3 (Co-fractionation), ABCF3 (Co-fractionation), ABCF3 (Co-fractionation), NLRP9 (Co-fractionation), ABCF3 (Affinity Capture-MS), TRIM27 (Two-hybrid), ABCF3 (Affinity Capture-MS), ABCF3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0D1CLQ4, A0A139AVY4, A9X4T1, B9FK36, C5E4D9, D0MYB4, G5EES6, J9VQZ9, O14134, O42943, O59672, O93796, O94489, P06625, P08240, P16521, P16638, P25997, P29551, P40024, P43535, P53396, P53585, P53978, Q08972, Q2KJA2, Q2TCH3, Q32PF2, Q3MHE8, Q4HY71, Q5KIM6, Q5R9Z5, Q66H39, Q6MG08, Q75EV6, Q767L0, Q7YR37, Q8H0V6, Q8K268, Q8NE71
Diamond homologs: A0A0H2VBH0, A0A0H2VFI8, A0KPH6, A1AC19, A1B9H9, A1JRI2, A1U776, O05519, O06476, O31716, O34512, O34631, O42943, O59672, P0A9U3, P0A9U4, P0A9U5, P0A9W3, P0A9W4, P0A9W5, P0A9X1, P0A9X2, P0A9X3, P12622, P25256, P40024, P43535, P43672, P44808, P45127, P57403, P63389, P63390, P9WQK2, P9WQK3, Q0I4A9, Q0T3U8, Q0TGX4, Q0VTB6, Q1C1S0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 151 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 Splicing | 9 | 11.2× | 6e-05 |
| PKR-mediated signaling | 6 | 9.6× | 5e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 9 | 8.4× | 4e-04 |
| mRNA Splicing - Major Pathway | 10 | 6.2× | 9e-04 |
| Metabolism of RNA | 11 | 5.2× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
139 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2533 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:184186276:GACCG:G | donor_gain | 1.0000 |
| 3:184186279:CGGT:C | donor_loss | 1.0000 |
| 3:184186280:GGTAA:G | donor_loss | 1.0000 |
| 3:184186281:G:GG | donor_gain | 1.0000 |
| 3:184186281:G:T | donor_loss | 1.0000 |
| 3:184186282:T:A | donor_loss | 1.0000 |
| 3:184186473:C:CA | acceptor_gain | 1.0000 |
| 3:184186491:ACCAC:A | acceptor_gain | 1.0000 |
| 3:184186495:C:CA | acceptor_gain | 1.0000 |
| 3:184186506:GGC:G | acceptor_gain | 1.0000 |
| 3:184186651:GTCT:G | donor_gain | 1.0000 |
| 3:184186655:G:GG | donor_gain | 1.0000 |
| 3:184186666:G:GT | donor_gain | 1.0000 |
| 3:184186792:ATAG:A | acceptor_gain | 1.0000 |
| 3:184187452:G:GT | donor_gain | 1.0000 |
| 3:184187455:G:GT | donor_gain | 1.0000 |
| 3:184187463:G:GT | donor_gain | 1.0000 |
| 3:184187464:G:T | donor_gain | 1.0000 |
| 3:184187607:T:TA | acceptor_gain | 1.0000 |
| 3:184187608:G:A | acceptor_gain | 1.0000 |
| 3:184187620:T:A | acceptor_gain | 1.0000 |
| 3:184187762:G:GG | donor_gain | 1.0000 |
| 3:184188140:GA:G | acceptor_gain | 1.0000 |
| 3:184188406:AGGTG:A | donor_loss | 1.0000 |
| 3:184188407:GGTGA:G | donor_loss | 1.0000 |
| 3:184188408:GTG:G | donor_loss | 1.0000 |
| 3:184188409:T:A | donor_loss | 1.0000 |
| 3:184188755:CTCCA:C | acceptor_loss | 1.0000 |
| 3:184188756:TCCA:T | acceptor_loss | 1.0000 |
| 3:184188759:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
4612 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:184188215:G:A | G215E | 1.000 |
| 3:184188221:C:T | T217I | 1.000 |
| 3:184189391:C:A | P354H | 1.000 |
| 3:184189870:T:C | F444L | 1.000 |
| 3:184189872:T:A | F444L | 1.000 |
| 3:184189872:T:G | F444L | 1.000 |
| 3:184188190:G:T | G207W | 0.999 |
| 3:184188191:G:A | G207E | 0.999 |
| 3:184188200:G:A | G210E | 0.999 |
| 3:184188207:T:A | N212K | 0.999 |
| 3:184188207:T:G | N212K | 0.999 |
| 3:184188209:G:A | G213E | 0.999 |
| 3:184188214:G:A | G215R | 0.999 |
| 3:184188214:G:C | G215R | 0.999 |
| 3:184188215:G:T | G215V | 0.999 |
| 3:184188217:A:C | K216Q | 0.999 |
| 3:184188219:G:C | K216N | 0.999 |
| 3:184188219:G:T | K216N | 0.999 |
| 3:184188943:T:A | L311H | 0.999 |
| 3:184188943:T:C | L311P | 0.999 |
| 3:184188957:T:C | F316L | 0.999 |
| 3:184188958:T:C | F316S | 0.999 |
| 3:184188959:T:A | F316L | 0.999 |
| 3:184188959:T:G | F316L | 0.999 |
| 3:184189102:G:A | G331D | 0.999 |
| 3:184189114:G:T | R335M | 0.999 |
| 3:184189123:T:C | L338P | 0.999 |
| 3:184189126:C:A | A339D | 0.999 |
| 3:184189263:T:C | L348P | 0.999 |
| 3:184189266:T:A | L349Q | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000284977 (3:184184665 C>T), RS1000401479 (3:184184938 A>C,G), RS1000628076 (3:184190250 T>C,G), RS1000855803 (3:184192210 A>G), RS1000908285 (3:184189219 G>A,T), RS1001245947 (3:184191459 T>C), RS1001290429 (3:184185827 G>A), RS1001573599 (3:184192589 A>G,T), RS1001795487 (3:184187161 G>A,C,T), RS1003150817 (3:184188659 T>C), RS1003415520 (3:184188688 C>A,T), RS1003468276 (3:184188431 A>G,T), RS1003647810 (3:184194001 G>A,C), RS1004175091 (3:184192524 A>C,G), RS1004426132 (3:184186686 C>T)
Disease associations
OMIM: gene MIM:618967 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001469_1 | Major depressive disorder | 5.000000e-06 |
| GCST010699_102 | Brain morphology (min-P) | 2.000000e-11 |
| GCST010701_37 | Cortical surface area (MOSTest) | 2.000000e-24 |
| GCST010702_18 | Subcortical volume (MOSTest) | 5.000000e-08 |
| GCST010703_130 | Brain morphology (MOSTest) | 3.000000e-08 |
| GCST90000025_678 | Appendicular lean mass | 1.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects splicing, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| azoxystrobin | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | increases expression | 1 |
| Environmental Pollutants | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Selenium | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression, affects cotreatment | 1 |
| Triiodothyronine | affects cotreatment, decreases expression | 1 |
| Zidovudine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1IM | Abcam HeLa ABCF3 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.