ABCF2

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): 42 total — 4 pathogenic, 1 likely-pathogenic
• GTEx eGene: eQTL in 39 tissues, sQTL in 28 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.61 (unconstrained)
• MANE Select transcript: NM_007189
• Interaction hub: 1,924 STRING partners (top 8% of genes corpus-wide)

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: 29 — 22 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000287844

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 3

ENST00000287844, ENST00000441774, ENST00000468073, ENST00000473874, ENST00000477252, ENST00000889547, ENST00000889548, ENST00000889549, ENST00000889550, ENST00000889551, ENST00000889552, ENST00000889553, ENST00000889554, ENST00000889555, ENST00000889556, ENST00000926792, ENST00000926793, ENST00000926794, ENST00000926795, ENST00000970627, ENST00000970628, ENST00000995975, ENST00000995976, ENST00001042411, ENST00001042414, ENST00001088670, ENST00001088671, ENST00001102938, ENST00001134836

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.

Highest expression (Bgee): sural nerve, gastrocnemius, muscle of leg, tibialis anterior, endothelial cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ABCF2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 39 tissues and its splicing (sQTL) in 28 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 67 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	sqtl	8.1e-86	-1.19	7:151211180:T:C
Thyroid	sqtl	1.3e-61	+1.09	7:151217750:A:AC
Thyroid	eqtl	4.4e-54	-0.32	7:151224864:A:G
Nerve Tibial	sqtl	2.7e-53	-1.00	7:151217750:A:AC
Skin Not Sun Exposed Suprapubic	sqtl	1.7e-50	-1.07	7:151217750:A:AC
Muscle Skeletal	sqtl	3.6e-26	+0.71	7:151217750:A:AC
Cells EBV-transformed lymphocytes	sqtl	4.1e-24	-1.06	7:151210600:C:G
Skin Sun Exposed Lower leg	sqtl	3.1e-21	+0.66	7:151233879:C:T
Whole Blood	eqtl	1.4e-19	-0.19	7:151224864:A:G
Pancreas	eqtl	2.4e-17	-0.27	7:151221828:G:C
Esophagus Mucosa	eqtl	5.6e-17	-0.14	7:151224864:A:G
Spleen	eqtl	4.7e-16	-0.31	7:151217750:A:AC
Skin Sun Exposed Lower leg	eqtl	6.2e-15	-0.16	7:151230677:T:C
Esophagus Mucosa	sqtl	5.5e-14	+0.59	7:151234878:C:CCA
Adipose Subcutaneous	sqtl	1.0e-13	+0.57	7:151227871:C:A
Breast Mammary Tissue	sqtl	1.2e-13	+0.64	7:151231571:T:C
Pituitary	eqtl	1.3e-12	-0.33	7:151227871:C:A
Skin Not Sun Exposed Suprapubic	eqtl	1.8e-12	-0.17	7:151211180:T:C
Nerve Tibial	eqtl	4.2e-11	-0.12	7:151217750:A:AC
Colon Transverse	eqtl	8.6e-11	-0.20	7:151221828:G:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
86883	28.0270	1808

Top tissues by expression

showing 100 of 287 tissues 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
esophagogastric junction muscularis propria	UBERON:0035841	84.89	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.81	gold quality
cingulate cortex	UBERON:0003027	84.67	gold quality
cerebellum	UBERON:0002037	84.59	gold quality
right atrium auricular region	UBERON:0006631	84.47	gold quality
anterior cingulate cortex	UBERON:0009835	84.42	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.37	gold quality
nucleus accumbens	UBERON:0001882	84.28	gold quality
hypothalamus	UBERON:0001898	84.22	gold quality
smooth muscle tissue	UBERON:0001135	84.15	gold quality
esophagus	UBERON:0001043	84.14	gold quality
putamen	UBERON:0001874	84.11	gold quality
embryo	UBERON:0000922	84.07	gold quality
neocortex	UBERON:0001950	84.02	gold quality
heart	UBERON:0000948	84.00	gold quality
frontal cortex	UBERON:0001870	83.97	gold quality
monocyte	CL:0000576	83.91	gold quality
metanephros cortex	UBERON:0010533	83.90	gold quality
left uterine tube	UBERON:0001303	83.89	gold quality
testis	UBERON:0000473	83.87	gold quality
right ovary	UBERON:0002118	83.85	gold quality
mononuclear cell	CL:0000842	83.81	gold quality
pituitary gland	UBERON:0000007	83.79	gold quality
left adrenal gland	UBERON:0001234	83.73	gold quality
leukocyte	CL:0000738	83.70	gold quality
caudate nucleus	UBERON:0001873	83.67	gold quality
left adrenal gland cortex	UBERON:0035825	83.47	gold quality
right adrenal gland	UBERON:0001233	83.34	gold quality
cardiac atrium	UBERON:0002081	83.31	gold quality
peritoneum	UBERON:0002358	83.30	gold quality
omental fat pad	UBERON:0010414	83.30	gold quality
esophagus mucosa	UBERON:0002469	83.26	gold quality
granulocyte	CL:0000094	83.25	gold quality
upper lobe of left lung	UBERON:0008952	83.12	gold quality
right adrenal gland cortex	UBERON:0035827	83.10	gold quality
mucosa of stomach	UBERON:0001199	83.04	gold quality
adrenal cortex	UBERON:0001235	83.03	gold quality
amygdala	UBERON:0001876	82.99	gold quality
skeletal muscle tissue	UBERON:0001134	82.95	gold quality
sigmoid colon	UBERON:0001159	82.93	gold quality
adrenal gland	UBERON:0002369	82.88	gold quality
forebrain	UBERON:0001890	82.86	gold quality
cerebral cortex	UBERON:0000956	82.82	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.81	gold quality
brain	UBERON:0000955	82.80	gold quality
telencephalon	UBERON:0001893	82.77	gold quality
central nervous system	UBERON:0001017	82.75	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.72	gold quality
body of uterus	UBERON:0009853	82.70	gold quality
lower esophagus mucosa	UBERON:0035834	82.68	gold quality
transverse colon	UBERON:0001157	82.65	gold quality
left ovary	UBERON:0002119	82.60	gold quality
left coronary artery	UBERON:0001626	82.51	gold quality
adipose tissue of abdominal region	UBERON:0007808	82.50	gold quality
body of stomach	UBERON:0001161	82.42	gold quality
upper lobe of lung	UBERON:0008948	82.42	gold quality
cartilage tissue	UBERON:0002418	82.37	gold quality
skin of leg	UBERON:0001511	82.28	gold quality
calcaneal tendon	UBERON:0003701	82.27	gold quality
tibial nerve	UBERON:0001323	82.25	gold quality
ascending aorta	UBERON:0001496	82.24	gold quality
thoracic aorta	UBERON:0001515	82.23	gold quality
gluteal muscle	UBERON:0002000	82.22	silver quality
coronary artery	UBERON:0001621	82.09	gold quality
substantia nigra pars reticulata	UBERON:0001966	82.07	silver quality
aorta	UBERON:0000947	82.04	gold quality
gall bladder	UBERON:0002110	82.04	gold quality
popliteal artery	UBERON:0002250	81.97	gold quality
tibial artery	UBERON:0007610	81.96	gold quality
pancreas	UBERON:0001264	81.91	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

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Frontal cortex	tissue	78.8
Caudate putamen	tissue	73.3
Cerebral cortex	tissue	28.0	medium
Somatosensory cortex	tissue	28.0
Postcentral gyrus	tissue	27.9
Superior colliculi	tissue	27.2
Thalamus	tissue	26.5
Pons	tissue	26.1
Occipital cortex	tissue	25.5
Motor cortex	tissue	25.3
Locus coeruleus	tissue	24.6
Prefrontal cortex	tissue	23.9
Putamen	tissue	23.9
Midbrain	tissue	23.3
Basal ganglia	tissue	22.7	medium
Hippocampal formation	tissue	22.5
Entorhinal cortex	tissue	22.5
Retrosplenial and cingulate cortex	tissue	22.5
Temporal cortex	tissue	22.2
Medulla oblongata	tissue	21.1
Retrosplenial cortex	tissue	21.1
Hippocampus	tissue	21.0	low
Substantia nigra	tissue	20.3
Ventral forebrain	tissue	20.1
Nucleus accumbens	tissue	19.8
Choroid plexus	tissue	19.7
Cerebellum	tissue	19.7	not detected
Insular cortex	tissue	19.2
Tongue	tissue	18.9
Hypothalamus	tissue	18.9
Skeletal muscle	tissue	18.8	not detected
Spinal cord	tissue	18.8
Septum	tissue	18.5
Amygdala	tissue	18.1
Periaqueductal gray	tissue	17.6
Olfactory bulb	tissue	14.6
Heart muscle	tissue	14.3	not detected
Tonsil	tissue	14.2	medium
Urinary bladder	tissue	14.0	low
Testis	tissue	13.5	medium
Parathyroid gland	tissue	13.5	not detected
Smooth muscle	tissue	13.2	not detected
Corpus callosum	tissue	12.3
Pituitary gland	tissue	12.0
Skin 1	tissue	11.7	medium
Adipose tissue	tissue	11.6	not detected
Epididymis	tissue	11.4	not detected
Lymph node	tissue	10.8	medium
Thymus	tissue	10.7
Appendix	tissue	10.4	low
Rectum	tissue	10.2	medium
Retina	tissue	10.0
Esophagus	tissue	9.8	medium
Seminal vesicle	tissue	9.6	medium
Placenta	tissue	9.6	medium
Vagina	tissue	9.2	not detected
Pancreas	tissue	8.9	medium
Endometrium 1	tissue	8.8	low
Adrenal gland	tissue	8.6	medium
Thyroid gland	tissue	8.4	low

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Precentral gyrus (30.1), Nucleus ambiguus (27.6), Nuclei of the trapezoid body (25.9), Inferior parietal lobule (25.8), Nucleus raphe magnus (25.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ABCF2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

1 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-432-5P	98.00	68.13	989

Functional genomics

gnomAD constraint: pLI 0.00338, LOEUF 0.61, missense Z 3.71 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000287844 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
7:151,214,057–151,218,866	194 / 348.6	0.56	no
7:151,218,867–151,226,458	330 / 433.6	0.76	no

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)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Escherichia coli K-12	P0A9U3	100.0%	Diamond
Escherichia coli CFT073	P0A9U4	100.0%	Diamond
Escherichia coli O157:H7	P0A9U5	100.0%	Diamond
Shigella flexneri	P0A9W5	100.0%	Diamond
Pongo abelii	Q5R9Z5	99.2%	Diamond
Bos taurus	Q2KJA2	97.8%	Diamond
Sus scrofa	Q767L0	94.6%	Diamond
Pan troglodytes	Q7YR37	94.6%	Diamond
Arabidopsis thaliana	Q9FIB4	81.8%	Diamond
Haemophilus influenzae Rd KW20	P44808	69.0%	Diamond
Saccharomyces cerevisiae S288C	P40024	58.3%	Diamond
Dictyostelium discoideum	Q8T6B7	57.9%	Diamond
Schizosaccharomyces pombe 972h-	O59672	55.1%	Diamond
Bacillus subtilis subsp. subtilis str. 168	O31716	45.8%	Diamond
Encephalitozoon cuniculi GB-M1	Q8SRV5	38.6%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ABCF2-H2BK1	protein-coding	114483834
ASB10	protein-coding	136371
DRC11L	protein-coding	392843
CHPF2	protein-coding	54480
MIR671	ncRNA	768213
H2BK1	protein-coding	114483833
SMARCD3	protein-coding	6604
WDR86-AS1	ncRNA	100131176
WDR86	protein-coding	349136
NUB1	protein-coding	51667
GBX1	protein-coding	2636

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

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UG63-F1	83.57	0.45

Human Protein Atlas

Protein class: Transporters, Primary Active Transporters, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol

Antibody reliability (HPA): IH approved · IF enhanced

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)

Position	Role
118–125	ATP
430–437	ATP

Post-translational modifications (3)

Type	Positions
Phosphothreonine	218
N6-acetyllysine	304
Phosphoserine	512

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 6; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

6 pathways:

ID	Pathway	Evidence
R-HSA-9818032	NFE2L2 regulating MDR associated enzymes	curated
R-HSA-9711123	Cellular response to chemical stress	—
R-HSA-8953897	Cellular responses to stimuli	—
R-HSA-2262752	Cellular responses to 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 Molecular Function (3): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166)

GO Cellular Component (3): cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

5 top-level categories:

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

11 GO namespaces:

Category	Terms
cellular anatomical structure	2
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
cytoplasm	1
membrane	1
cell periphery	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 6 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
cytosol	CC	direct assay
membrane	CC	high-throughput assay

Protein interactions and networks

STRING

showing 15 of 1,924 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABCF2	ABCB1	P08183	795
ABCF2	ABCE1	P61221	706
ABCF2	ABCD4	O14678	618
ABCF2	ABCB6	Q9NP58	617
ABCF2	ABCC5	O15440	599
ABCF2	ABCC11	Q96J66	577
ABCF2	ABCB7	O75027	572
ABCF2	ABCG5	Q9H222	568
ABCF2	ABCB8	Q9NUT2	537
ABCF2	ABCC12	Q96J65	536
ABCF2	ABCB9	Q9NP78	535
ABCF2	ABCG4	Q9H172	517
ABCF2	ABCA13	Q86UQ4	497
ABCF2	ABCC2	Q92887	487
ABCF2	ABCC10	Q5T3U5	468

IntAct

Human interaction partners of ABCF2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
AHCYL1	association	0.530	3
HADHA	physical association	0.370	1
ANKRD28	physical association	0.000	1

BioGRID (269 interactions; top human partners by supporting records): CCNF (Affinity Capture-MS; 3 records), HIST1H1C (Cross-Linking-MS (XL-MS); 3 records), PARK2 (Affinity Capture-MS; 3 records), RPL10A (Cross-Linking-MS (XL-MS); 3 records), AHCYL1 (Affinity Capture-MS; 2 records), AHCYL2 (Affinity Capture-MS; 2 records), ANLN (Affinity Capture-MS; 2 records), ATG16L1 (Affinity Capture-MS; 2 records), CDK9 (Affinity Capture-MS; 2 records), GNL1 (Affinity Capture-MS; 2 records), HSPA5 (Co-fractionation; 2 records), ISG15 (Affinity Capture-MS; 2 records), MYC (Affinity Capture-MS; 2 records), NPM1 (Affinity Capture-MS; 2 records), NUDCD1 (Affinity Capture-MS; 2 records)

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
★ SNW1 complex	18	SNW1, TUBB, ABCF2, DDB1, DDX23, EEF1A1, HSPA5, PFKL, CDC5L, EFTUD2, PRPF8, SFPQ, MATR3, MSH2, UBR5, EEF1G, HNRNPU, SNRNP200

Disease & clinical

Genetic variants

Variant evidence for ABCF2: 42 ClinVar records (5 pathogenic / likely pathogenic); 10 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

42 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	20
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (5)

Showing all 5 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
527120	NC_000007.13:g.(?150642433)(151573725_?)del	Pathogenic	criteria provided, single submitter	1
1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	Pathogenic	criteria provided, single submitter	1
3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	Pathogenic	criteria provided, single submitter	1
145486	GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1	Pathogenic	no assertion criteria provided	1
149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore ABCF2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 42 predictions of 1,152):

Position(s)	Effect	Δscore	Sites
7:151214192–151214193	acceptor_loss	1.0000	6
7:151214877–151214878	donor_loss	1.0000	5
7:151215602–151215603	donor_loss	1.0000	5
7:151215734	acceptor_loss	1.0000	2
7:151215965–151215966	donor_loss	1.0000	5
7:151215984	donor_gain	1.0000
7:151216030–151216031	acceptor_loss	1.0000	6
7:151218651–151218652	acceptor_loss	1.0000	6
7:151218752–151218753	donor_loss	1.0000	5
7:151218758	donor_gain	1.0000

AlphaMissense

2,479 missense substitutions predicted likely pathogenic (of 4,117 scored), across 516 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M235	9	0.990	0.999
M366	9	0.913	0.995
M338	9	0.903	0.993
M397	9	0.877	0.977
M221	9	0.870	0.979
M496	9	0.850	0.992
D253	8	0.999	1.000
H283	8	0.999	1.000
D541	8	0.999	1.000
D548	8	0.999	1.000
H571	8	0.999	1.000
D572	8	0.999	1.000
D260	8	0.998	0.999
F217	8	0.996	1.000
N120	8	0.995	1.000
D85	8	0.993	0.998
S230	8	0.993	0.999
F287	8	0.991	0.999
D286	8	0.990	0.997
F345	8	0.990	1.000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	1.81e-09
Kidney Chromophobe (TCGA)	unfavorable	4.51e-05

Disease associations

OMIM: gene MIM:612510 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): long QT syndrome (MONDO:0002442)

GWAS associations

10 associations:

Study	Trait	p-value
GCST009860_4	IgG N-glycosylation phenotypes (multivariate analysis)	2e-22
GCST008758_92	Pre-treatment viral load in HIV-1 infection	4e-17
GCST001848_186	IgG glycosylation	2e-10
GCST001848_628	IgG glycosylation	6e-10
GCST001848_607	IgG glycosylation	1e-9
GCST008839_99	Height	1e-9
GCST001848_494	IgG glycosylation	2e-9
GCST007691_17	Femoral neck bone mineral density	7e-9
GCST001848_163	IgG glycosylation	7e-6
GCST003476_6	Eyebrow thickness	7e-6

EFO canonical traits (from GWAS)

3 canonical traits:

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 disease descriptors:

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 (CPIC guideline: no)

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	increases reaction, affects binding	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, decreases expression	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)

Via MONDO — disease-level, not drug-specific.

showing 60 of 68 trials:

NCT	Phase	Status	Title
NCT02513940	Phase 4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	Phase 4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	Phase 4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	Phase 4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205	Phase 2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	Phase 2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	Phase 2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT00316459	Phase 1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	Phase 1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	Phase 1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	Phase 1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	Phase 1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	Phase 1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT05906732	Phase 1/2	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
NCT02931695	Not specified	COMPLETED	Ventricular Repolarization During the Pregnancy-to-Postpartum Transition (QuTe)
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
NCT03775954	Not specified	RECRUITING	Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise
NCT03783975	Not specified	TERMINATED	KCNQ1 Cascade Screening
NCT03868657	Not specified	COMPLETED	The Physiological Effects of Human Ether-a-go-go-Related Gene (hERG)Blockade on Metabolism
NCT04074122	Not specified	UNKNOWN	Electromechanical Profiling of the Long-QT Syndrome (LQTS)
NCT04124237	Not specified	COMPLETED	Long Term Monitoring for Risk of Sudden Death
NCT04189822	Not specified	ENROLLING_BY_INVITATION	Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank
NCT04328376	Not specified	COMPLETED	Measurement of the Electromechanical Window to Improve the Diagnosis of Congenital Long QT Syndrome
NCT04336644	Not specified	RECRUITING	Continuous Versus Intermittent cARdiac Electrical moNitorinG
NCT04441892	Not specified	TERMINATED	Low Cost QTc Meter for Long QT Syndrome Screening in Primary Care
NCT04650009	Not specified	COMPLETED	Physical Activity in Children With Inherited Cardiac Diseases
NCT04699097	Not specified	COMPLETED	The Effect of Azithromycin Use on Conduction System of Heart in COVID-19 Positive Children
NCT04706104	Not specified	COMPLETED	QT Measurement Techniques and Anesthesia Management
NCT04712136	Not specified	COMPLETED	Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations
NCT04715256	Not specified	UNKNOWN	Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients.
NCT04728100	Not specified	COMPLETED	LQT and Smartphone/Smartwatch
NCT05274646	Not specified	COMPLETED	Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A
NCT05348564	Not specified	RECRUITING	Comparing Direct vs Indirect Methods for Cascade Screening
NCT05521451	Not specified	RECRUITING	Clinical Cohort Study - TRUST
NCT05903313	Not specified	UNKNOWN	A Study to Evaluate Accuracy and Validity of the Chang Gung ECG Abnormality Detection Software

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for ABCF2 across ~30M SureChEMBL compounds — explore on Sugi Predict.