ABCF2

Chr 7

ATP binding cassette subfamily F member 2

Also known as: ABC28, EST133090, HUSSY-18, HUSSY18

NCBI Gene: 10061ENSG00000033050UniProt: 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. [provided by RefSeq, Mar 2019]

101
ClinVar variants
74
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— ABCF2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.
📋
ClinVar Variants
74 Pathogenic / Likely Pathogenic· 27 VUS of 101 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.48LOEUF
pLI 0.011
Z-score 4.07
OE 0.29 (0.18–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.48Z-score
OE missense 0.64 (0.57–0.71)
235 obs / 369.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.29 (0.18–0.48)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.64 (0.57–0.71)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.00
0≤1.21.6
LoF obs/exp: 11 / 38.1Missense obs/exp: 235 / 369.2Syn Z: 0.02

ClinVar Variant Classifications

101 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic70
Likely Pathogenic4
VUS27
70
Pathogenic
4
Likely Pathogenic
27
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
70
0
70
Likely Pathogenic
0
0
4
0
4
VUS
0
20
7
0
27
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total020810101

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ABCF2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Relationship between ABCF2 expression and response to chemotherapy or prognosis in clear cell adenocarcinoma of the ovary.
Tsuda H et al.·Int J Gynecol Cancer
2010
The association of ABC proteins with multidrug resistance in cancer.
Marques AVL et al.·Biochim Biophys Acta Mol Cell Res
2025Review
Can ABCF2 protein expression predict the prognosis of uterine cancer?
Nishimura S et al.·Br J Cancer
2008
Clinical role of ABCF2 expression in breast cancer.
Ogawa Y et al.·Anticancer Res
2006
Identification of overexpression and amplification of ABCF2 in clear cell ovarian adenocarcinomas by cDNA microarray analyses.
Tsuda H et al.·Clin Cancer Res
2005
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis.
Musumeci A et al.·Genes (Basel)
2025Case report
Early targets of miR-34a in neuroblastoma.
De Antonellis P et al.·Mol Cell Proteomics
2014
Effect of elexacaftor-tezacaftor-ivacaftor on bronchial dilatations in adolescents with cystic fibrosis: a multicentre prospective observational study.
Sermet-Gaudelus I et al.·Lancet Respir Med
2026
Association of ABC gene profiles with time to progression and resistance in ovarian cancer revealed by bioinformatics analyses.
Seborova K et al.·Cancer Med
2019
Keratinocyte ATP binding cassette transporter expression is regulated by ultraviolet light.
Markó L et al.·J Photochem Photobiol B
2012
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools