ABCF2
geneOn this page
Also known as EST133090ABC28M-ABC1HUSSY-18
Summary
ABCF2 (ATP binding cassette subfamily F member 2, HGNC:71) is a protein-coding gene on chromosome 7q36.1, encoding ATP-binding cassette sub-family F member 2 (Q9UG63).
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. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7.
Source: NCBI Gene 10061 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 41 total — 3 pathogenic, 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_007189
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:71 |
| Approved symbol | ABCF2 |
| Name | ATP binding cassette subfamily F member 2 |
| Location | 7q36.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EST133090, ABC28, M-ABC1, HUSSY-18 |
| Ensembl gene | ENSG00000033050 |
| Ensembl biotype | protein_coding |
| OMIM | 612510 |
| Entrez | 10061 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 19 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000287844, ENST00000441774, ENST00000468073, ENST00000473874, ENST00000477252, ENST00000889547, ENST00000889548, ENST00000889549, ENST00000889550, ENST00000889551, ENST00000889552, ENST00000889553, ENST00000889554, ENST00000889555, ENST00000889556, ENST00000926792, ENST00000926793, ENST00000926794, ENST00000926795, ENST00000970627, ENST00000970628
RefSeq mRNA: 1 — MANE Select: NM_007189
NM_007189
CCDS: CCDS5923
Canonical transcript exons
ENST00000287844 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001354848 | 151211484 | 151214191 |
| ENSE00001354863 | 151227163 | 151227205 |
| ENSE00003817063 | 151214879 | 151215082 |
| ENSE00003817212 | 151226305 | 151226500 |
| ENSE00003817476 | 151215967 | 151216029 |
| ENSE00003818251 | 151223678 | 151223849 |
| ENSE00003819593 | 151219064 | 151219159 |
| ENSE00003821046 | 151215604 | 151215732 |
| ENSE00003821589 | 151218561 | 151218650 |
| ENSE00003822627 | 151221578 | 151221680 |
| ENSE00003822729 | 151222521 | 151222616 |
| ENSE00003824210 | 151223932 | 151224114 |
| ENSE00003825168 | 151218081 | 151218191 |
| ENSE00003828022 | 151218754 | 151218873 |
| ENSE00003830244 | 151224776 | 151224988 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 91.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.0270 / max 155.1186, expressed in 1808 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86883 | 28.0270 | 1808 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 91.89 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.45 | gold quality |
| muscle of leg | UBERON:0001383 | 90.78 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.51 | silver quality |
| endothelial cell | CL:0000115 | 88.32 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.98 | gold quality |
| cortical plate | UBERON:0005343 | 87.90 | gold quality |
| secondary oocyte | CL:0000655 | 87.42 | gold quality |
| muscle organ | UBERON:0001630 | 87.41 | gold quality |
| apex of heart | UBERON:0002098 | 87.26 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.05 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.62 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.58 | gold quality |
| oocyte | CL:0000023 | 86.14 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.14 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.11 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.94 | gold quality |
| deltoid | UBERON:0001476 | 85.93 | silver quality |
| cardiac ventricle | UBERON:0002082 | 85.80 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.72 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.66 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.40 | gold quality |
| lower esophagus | UBERON:0013473 | 85.36 | gold quality |
| left testis | UBERON:0004533 | 85.35 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.34 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.12 | gold quality |
| right testis | UBERON:0004534 | 85.02 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.01 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.61 |
| E-GEOD-124858 | no | 155.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
1 targeting ABCF2, 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-432-5P | 98.00 | 68.13 | 989 |
Literature-anchored findings (GeneRIF, showing 6)
- ABCF2 may have a role in progression of clear cell ovarian adenocarcinomas (PMID:16203778)
- Data suggest that ABCF2 protein may be a candidate marker for clear cell adenocarcinomas of the ovary and the uterine corpus and may be important for the pathogenesis of these diseases. (PMID:16996567)
- Among cervical cancer cases, 149 (55.8%) expressed ABCF2. The overall survival was longer in ABCF2-negative than ABCF2-positive cases (PMID:19002184)
- Overexpression of ABCF2 suppressed RVD. (PMID:22252987)
- The NRF2-overexpressing cell line, containing high levels of ABCF2, was more resistant to cisplatin-induced apoptosis compared to its control ovarian cancer cell line; whereas the NRF2 knockdown cell line with low levels of ABCF2, was more sensitive to cisplatin treatment than its control cell line. (PMID:28112439)
- Circular RNA Eps15-homology domain-containing protein 2 induce resistance of renal cell carcinoma to sunitinib via microRNA-4731-5p/ABCF2 axis. (PMID:35412955)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | abcf2a | ENSDARG00000038785 |
| danio_rerio | abcf2b | ENSDARG00000052331 |
| mus_musculus | Abcf2 | ENSMUSG00000028953 |
| rattus_norvegicus | Abcf2 | ENSRNOG00000010609 |
| drosophila_melanogaster | CG9281 | FBGN0030672 |
| caenorhabditis_elegans | WBGENE00012097 |
Paralogs (2): ABCF3 (ENSG00000161204), ABCF1 (ENSG00000204574)
Protein
Protein identifiers
ATP-binding cassette sub-family F member 2 — Q9UG63 (reviewed: Q9UG63)
Alternative names: Iron-inhibited ABC transporter 2
All UniProt accessions (4): A0A090N7X1, C9JHK9, C9JZV3, Q9UG63
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UG63-1 | 1 | yes |
| Q9UG63-2 | 2 |
RefSeq proteins (1): NP_009120* (*=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 |
Pfam: PF00005, PF12848
UniProt features (13 total): modified residue 3, domain 2, sequence conflict 2, binding site 2, chain 1, splice variant 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UG63-F1 | 83.57 | 0.45 |
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): 118–125; 430–437
Post-translational modifications (3): 218, 304, 512
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-9818032 | NFE2L2 regulating MDR associated enzymes |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-9711123 | Cellular response to chemical stress |
| R-HSA-9755511 | KEAP1-NFE2L2 pathway |
| R-HSA-9759194 | Nuclear events mediated by NFE2L2 |
MSigDB gene sets: 173 (showing top):
ELVIDGE_HYPOXIA_DN, E2F_Q4_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, ROVERSI_GLIOMA_COPY_NUMBER_UP, AP2_Q3, WEI_MYCN_TARGETS_WITH_E_BOX, E2F_Q3, SOX9_B1, WANG_LMO4_TARGETS_DN, GARY_CD5_TARGETS_DN, SCHLOSSER_SERUM_RESPONSE_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, GFI1_01
GO Biological Process (0):
GO Molecular Function (3): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Nuclear events mediated by NFE2L2 | 1 |
| Cellular responses to stimuli | 1 |
| Cellular responses to stress | 1 |
| Cellular response to chemical stress | 1 |
| KEAP1-NFE2L2 pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| ATP-dependent activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
3014 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ABCF2 | ABCB1 | P08183 | 804 |
| ABCF2 | ABCE1 | P61221 | 714 |
| ABCF2 | ABCB6 | Q9NP58 | 643 |
| ABCF2 | ABCD4 | O14678 | 623 |
| ABCF2 | ABCB7 | O75027 | 580 |
| ABCF2 | ABCC5 | O15440 | 565 |
| ABCF2 | ABCC11 | Q96J66 | 554 |
| ABCF2 | ABCG4 | Q9H172 | 554 |
| ABCF2 | ABCB8 | Q9NUT2 | 548 |
| ABCF2 | ABCC12 | Q96J65 | 524 |
| ABCF2 | ABCB9 | Q9NP78 | 522 |
| ABCF2 | ABCC2 | Q92887 | 495 |
| ABCF2 | ABCG2 | Q9UNQ0 | 484 |
| ABCF2 | ABCC10 | Q5T3U5 | 481 |
| ABCF2 | ABCA13 | Q86UQ4 | 475 |
IntAct
84 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RAF1 | CALU | psi-mi:“MI:0914”(association) | 0.640 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| ILK | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| ABCF2 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNW1 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.530 |
| ABCF2 | HADHA | psi-mi:“MI:0915”(physical association) | 0.370 |
| ACAD9 | NDUFS2 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Nfyc | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP5C | PSEN2 | psi-mi:“MI:0914”(association) | 0.350 |
| Uso1 | SLC30A6 | psi-mi:“MI:0914”(association) | 0.350 |
| Mis12 | CTNNB1 | psi-mi:“MI:0914”(association) | 0.350 |
| Smc1a | PDS5B | psi-mi:“MI:0914”(association) | 0.350 |
| TM9SF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| NPM1 | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| MAD2L1 | MAD1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | psi-mi:“MI:0914”(association) | 0.350 | |
| BCAR1 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (253): ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-RNA), ABCF2 (Affinity Capture-RNA), ABCF2 (Affinity Capture-RNA), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation)
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 117 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of MAPK cascade | 9 | 7.6× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 20 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1330211 | GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1 | Pathogenic |
| 145486 | GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1 | Pathogenic |
| 527120 | NC_000007.13:g.(?150642433)(151573725_?)del | Pathogenic |
| 149569 | GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 | Likely pathogenic |
SpliceAI
2217 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:151214187:GCAAC:G | acceptor_gain | 1.0000 |
| 7:151214188:CAAC:C | acceptor_gain | 1.0000 |
| 7:151214188:CAACC:C | acceptor_gain | 1.0000 |
| 7:151214189:AAC:A | acceptor_gain | 1.0000 |
| 7:151214190:AC:A | acceptor_gain | 1.0000 |
| 7:151214191:CC:C | acceptor_gain | 1.0000 |
| 7:151214192:C:CC | acceptor_gain | 1.0000 |
| 7:151214873:CCTCA:C | donor_loss | 1.0000 |
| 7:151214877:AC:A | donor_loss | 1.0000 |
| 7:151214878:CC:C | donor_loss | 1.0000 |
| 7:151214878:CCTG:C | donor_gain | 1.0000 |
| 7:151214919:C:CT | donor_gain | 1.0000 |
| 7:151214993:C:CT | acceptor_gain | 1.0000 |
| 7:151215601:GAC:G | donor_loss | 1.0000 |
| 7:151215603:C:CT | donor_loss | 1.0000 |
| 7:151215642:T:TA | donor_gain | 1.0000 |
| 7:151215728:AAATG:A | acceptor_gain | 1.0000 |
| 7:151215729:AATG:A | acceptor_gain | 1.0000 |
| 7:151215730:ATG:A | acceptor_gain | 1.0000 |
| 7:151215731:TG:T | acceptor_gain | 1.0000 |
| 7:151215731:TGCTA:T | acceptor_loss | 1.0000 |
| 7:151215732:GCTAC:G | acceptor_loss | 1.0000 |
| 7:151215733:C:CC | acceptor_gain | 1.0000 |
| 7:151215961:CTGTA:C | donor_loss | 1.0000 |
| 7:151215962:TGTA:T | donor_loss | 1.0000 |
| 7:151215963:GTAC:G | donor_loss | 1.0000 |
| 7:151215964:TACC:T | donor_loss | 1.0000 |
| 7:151215965:A:C | donor_loss | 1.0000 |
| 7:151215966:CCTG:C | donor_loss | 1.0000 |
| 7:151215984:T:C | donor_gain | 1.0000 |
AlphaMissense
4117 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:151214889:A:G | L575P | 1.000 |
| 7:151214898:T:A | D572V | 1.000 |
| 7:151214898:T:C | D572G | 1.000 |
| 7:151214898:T:G | D572A | 1.000 |
| 7:151214900:A:C | H571Q | 1.000 |
| 7:151214900:A:T | H571Q | 1.000 |
| 7:151214902:G:C | H571D | 1.000 |
| 7:151214903:G:C | S570R | 1.000 |
| 7:151214903:G:T | S570R | 1.000 |
| 7:151214905:T:G | S570R | 1.000 |
| 7:151214947:C:G | A556P | 1.000 |
| 7:151214949:A:G | L555P | 1.000 |
| 7:151214970:T:A | D548V | 1.000 |
| 7:151214973:A:G | L547P | 1.000 |
| 7:151214978:A:C | N545K | 1.000 |
| 7:151214978:A:T | N545K | 1.000 |
| 7:151214985:G:T | P543H | 1.000 |
| 7:151214987:T:A | E542D | 1.000 |
| 7:151214987:T:G | E542D | 1.000 |
| 7:151214988:T:A | E542V | 1.000 |
| 7:151214988:T:C | E542G | 1.000 |
| 7:151214988:T:G | E542A | 1.000 |
| 7:151214989:C:T | E542K | 1.000 |
| 7:151214991:T:A | D541V | 1.000 |
| 7:151214992:C:G | D541H | 1.000 |
| 7:151215030:G:T | A528D | 1.000 |
| 7:151215054:C:A | G520V | 1.000 |
| 7:151215054:C:T | G520E | 1.000 |
| 7:151215055:C:A | G520W | 1.000 |
| 7:151215055:C:G | G520R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000038159 (7:151217529 G>A), RS1000146707 (7:151225174 C>G), RS1000374572 (7:151211129 C>T), RS1000560000 (7:151228216 C>T), RS1000831940 (7:151218638 A>C), RS1001022204 (7:151212767 A>G), RS1001026718 (7:151222058 A>C), RS1001039489 (7:151215888 C>T), RS1001112917 (7:151215538 C>A,G,T), RS1001251641 (7:151225418 C>T), RS1001438379 (7:151211902 C>T), RS1001592735 (7:151220725 T>C), RS1001765685 (7:151217876 T>A,G), RS1001965499 (7:151227174 G>A), RS1002092332 (7:151214267 C>A,T)
Disease associations
OMIM: gene MIM:612510 | disease phenotypes: MIM:617768
GenCC curated gene-disease
Mondo (2): Kleefstra syndrome 2 (MONDO:0054701), long QT syndrome (MONDO:0002442)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001848_161 | IgG glycosylation | 2.000000e-10 |
| GCST001848_453 | IgG glycosylation | 2.000000e-09 |
| GCST001848_557 | IgG glycosylation | 1.000000e-09 |
| GCST001848_60 | IgG glycosylation | 7.000000e-06 |
| GCST001848_603 | IgG glycosylation | 6.000000e-10 |
| GCST003476_9 | Eyebrow thickness | 7.000000e-06 |
| GCST007691_24 | Femoral neck bone mineral density | 7.000000e-09 |
| GCST008758_66 | Pre-treatment viral load in HIV-1 infection | 4.000000e-17 |
| GCST008839_24 | Height | 1.000000e-09 |
| GCST009860_4 | IgG N-glycosylation phenotypes (multivariate analysis) | 2.000000e-22 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005193 | serum IgG glycosylation measurement |
| EFO:0007785 | femoral neck bone mineral density |
| EFO:0010125 | viral load |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067160 (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 |
|---|---|---|---|---|
| 5.26 | Kd | 5468 | nM | CHEMBL3752910 |
| 5.26 | ED50 | 5468 | nM | CHEMBL3752910 |
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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149821: Binding affinity to human ABCF2 incubated for 45 mins by Kinobead based pull down assay | kd | 5.4678 | uM |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression | 3 |
| Nickel | decreases expression, increases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| uranyl acetate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| quercitrin | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects binding, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Sarin | decreases expression, increases expression | 1 |
| Smoke | decreases 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 |
|---|---|---|---|
| CHEMBL5652863 | Binding | Binding affinity to human ABCF2 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 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2R3 | Abcam HEK293T ABCF2 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
66 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04675788 | PHASE4 | COMPLETED | Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening |
| NCT01648205 | PHASE2 | COMPLETED | Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients |
| NCT02412709 | PHASE2 | UNKNOWN | Long QT Syndrome Screening in Newborns |
| NCT04581408 | PHASE2 | COMPLETED | Mutation-specific Therapy for the Long QT Syndrome |
| NCT00316459 | PHASE1 | COMPLETED | Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects |
| NCT01849003 | PHASE1 | COMPLETED | Study of the Effect of GS-6615 in Subjects With LQT-3 |
| NCT02365532 | PHASE1 | COMPLETED | Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults |
| NCT02412098 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function |
| NCT02441829 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function |
| NCT05759962 | PHASE1 | COMPLETED | Phase 1 Study of LQT-1213 in Healthy Adults |
| NCT05906732 | PHASE1/PHASE2 | TERMINATED | Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2). |
| NCT00005176 | Not specified | COMPLETED | Long QT Syndrome-Population Genetics and Cardiac Studies |
| NCT00005250 | Not specified | COMPLETED | Linkage Study of Long QT Syndrome In An Amish Kindred |
| NCT00005367 | Not specified | COMPLETED | Epidemiology of Long QTand Asian Sudden Death in Sleep |
| NCT00221832 | Not specified | UNKNOWN | Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases |
| NCT00292032 | Not specified | COMPLETED | Registry of Unexplained Cardiac Arrest |
| NCT00335036 | Not specified | TERMINATED | Pediatric Lead Extractability and Survival Evaluation (PLEASE) |
| NCT00399412 | Not specified | COMPLETED | ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients |
| NCT00488254 | Not specified | COMPLETED | The Long QT Syndrome in Pregnancy |
| NCT00588965 | Not specified | COMPLETED | Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects |
| NCT01705925 | Not specified | COMPLETED | Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome |
| NCT01903564 | Not specified | COMPLETED | Fetal and Neonatal Magnetophysiology |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02413450 | Not specified | ENROLLING_BY_INVITATION | Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
| NCT02425189 | Not specified | COMPLETED | The Canadian National Long QT Syndrome Registry |
| NCT02439645 | Not specified | TERMINATED | A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes |
| NCT02439658 | Not specified | UNKNOWN | Genetics of QT Prolongation With Antiarrhythmics |
| NCT02549664 | Not specified | COMPLETED | Exercise in Genetic Cardiovascular Conditions |
| NCT02581241 | Not specified | COMPLETED | Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome |
| NCT02680080 | Not specified | COMPLETED | Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome |
| NCT02775513 | Not specified | UNKNOWN | Metabolism of Patients With Genetically Caused Cardiac Arrhythmia |
| NCT02814981 | Not specified | UNKNOWN | Hydroxyzine and Risk of Prolongation of QT Interval |
| NCT02876380 | Not specified | COMPLETED | Prospective Identification of Long QT Syndrome in Fetal Life |
| NCT03182777 | Not specified | COMPLETED | Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies |
| NCT03544918 | Not specified | COMPLETED | Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort |
| NCT03642405 | Not specified | UNKNOWN | Drug-induced Repolarization ECG Changes |
| NCT03678311 | Not specified | COMPLETED | Long QT Syndrome and Sleep Apnea |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Kleefstra syndrome 2