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] See more...

Aliases for ABCF2 Gene

Aliases for ABCF2 Gene

  • ATP Binding Cassette Subfamily F Member 2 2 3 5
  • ATP-Binding Cassette, Sub-Family F (GCN20), Member 2 2 3
  • ATP-Binding Cassette Sub-Family F Member 2 3 4
  • Iron-Inhibited ABC Transporter 2 3 4
  • EST133090 2 3
  • HUSSY-18 2 3
  • ABC28 2 3
  • ABC-Type Transport Protein 3
  • EC 3.6.3.17 51
  • EC 3.6.3 51
  • HUSSY18 3
  • M-ABC1 2
  • ABCF2 5

External Ids for ABCF2 Gene

Previous GeneCards Identifiers for ABCF2 Gene

  • GC07M149151
  • GC07M150219
  • GC07M150296
  • GC07M150342
  • GC07M150535
  • GC07M150904
  • GC07M144715
  • GC07M151207

Summaries for ABCF2 Gene

Entrez Gene Summary for ABCF2 Gene

  • 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]

GeneCards Summary for ABCF2 Gene

ABCF2 (ATP Binding Cassette Subfamily F Member 2) is a Protein Coding gene. Diseases associated with ABCF2 include Cystic Fibrosis and Osteogenesis Imperfecta, Type I. Among its related pathways are Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include transporter activity and ATPase activity. An important paralog of this gene is ABCF2-H2BE1.

Gene Wiki entry for ABCF2 Gene

Additional gene information for ABCF2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCF2 Gene

Genomics for ABCF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J151225 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 628.7 +0.0 1 3.2 CEBPG SP1 CREB1 PRDM10 REST ZNF629 SIX5 LEF1 SOX13 IKZF1 ABCF2 ABCF2-H2BE1 lnc-CHPF2-4 lnc-SMARCD3-1 H2BE1 RF00017-6756
GH07J151223 Promoter 0.3 EPDnew 600.7 +3.4 3443 0.1 ABCF2 ABCF2-H2BE1 lnc-SMARCD3-1 H2BE1 RF00017-6756
GH07J151218 Promoter 0.3 EPDnew 600.4 +9.1 9078 0.1 ABCF2 ABCF2-H2BE1 H2BE1 lnc-SMARCD3-1 RF00017-6756
GH07J151244 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 39.3 -21.8 -21750 9.9 ARHGAP35 HNRNPL CTCF PRDM10 ZNF512 RFX1 IKZF1 KDM1A ZNF692 BACH1 SMARCD3 ENSG00000243018 ENSG00000244151 ABCF2 NUB1 ASB10 GBX1 SLC4A2 AGAP3 TMUB1
GH07J151231 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 27.8 -5.8 -5805 2.8 ARHGAP35 SP1 HNRNPL PRDM10 ZNF629 RFX1 IKZF1 ZNF692 POLR2A BACH1 CHPF2 lnc-ABCF2-2 ABCF2 NUB1 ENSG00000244151 SMARCD3 RF00017-6756
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCF2

Top Transcription factor binding sites by QIAGEN in the ABCF2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Ik-2
  • MyoD
  • SEF-1 (1)

Genomic Locations for ABCF2 Gene

Genomic Locations for ABCF2 Gene
chr7:151,211,484-151,227,205
(GRCh38/hg38)
Size:
15,722 bases
Orientation:
Minus strand
chr7:150,904,923-150,924,317
(GRCh37/hg19)
Size:
19,395 bases
Orientation:
Minus strand

Genomic View for ABCF2 Gene

Genes around ABCF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCF2 Gene

Proteins for ABCF2 Gene

  • Protein details for ABCF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UG63-ABCF2_HUMAN
    Recommended name:
    ATP-binding cassette sub-family F member 2
    Protein Accession:
    Q9UG63
    Secondary Accessions:
    • O60864
    • Q75MJ0
    • Q75MJ1
    • Q96TE8

    Protein attributes for ABCF2 Gene

    Size:
    623 amino acids
    Molecular mass:
    71290 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCF2 Gene

Selected DME Specific Peptides for ABCF2 Gene

Q9UG63:
  • NGAGKST
  • NGAGKSTLLK
  • GPNGAGKS

Post-translational modifications for ABCF2 Gene

  • Ubiquitination at Lys315, Lys339, Lys365, Lys436, Lys508, Lys602, and Lys618
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ABCF2 Gene

Gene Families for ABCF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABCF2 Gene

Suggested Antigen Peptide Sequences for ABCF2 Gene

GenScript: Design optimal peptide antigens:
  • Iron-inhibited ABC transporter 2 (ABCF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UG63

UniProtKB/Swiss-Prot:

ABCF2_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.
Family:
  • Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.
genes like me logo Genes that share domains with ABCF2: view

Function for ABCF2 Gene

Molecular function for ABCF2 Gene

GENATLAS Biochemistry:
ATP-binding cassette superfamily,subfamily F (GCN20),member 2

Enzyme Numbers (IUBMB) for ABCF2 Gene

Phenotypes From GWAS Catalog for ABCF2 Gene

Gene Ontology (GO) - Molecular Function for ABCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA,IBA 21873635
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCF2: view

Phenotypes for ABCF2 Gene

genes like me logo Genes that share phenotypes with ABCF2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCF2

CRISPR Products

miRNA for ABCF2 Gene

miRTarBase miRNAs that target ABCF2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCF2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCF2 Gene

Localization for ABCF2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCF2 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with ABCF2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABCF2 Gene

Pathways & Interactions for ABCF2 Gene

PathCards logo

SuperPathways for ABCF2 Gene

genes like me logo Genes that share pathways with ABCF2: view

Pathways by source for ABCF2 Gene

1 KEGG pathway for ABCF2 Gene

Interacting Proteins for ABCF2 Gene

Gene Ontology (GO) - Biological Process for ABCF2 Gene

None

No data available for SIGNOR curated interactions for ABCF2 Gene

Drugs & Compounds for ABCF2 Gene

(1) Drugs for ABCF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ABCF2: view

Transcripts for ABCF2 Gene

mRNA/cDNA for ABCF2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCF2

Alternative Splicing Database (ASD) splice patterns (SP) for ABCF2 Gene

No ASD Table

Relevant External Links for ABCF2 Gene

GeneLoc Exon Structure for
ABCF2

Expression for ABCF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCF2 Gene

Protein differential expression in normal tissues from HIPED for ABCF2 Gene

This gene is overexpressed in Lung (44.5) and Breast (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCF2 Gene



Protein tissue co-expression partners for ABCF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCF2

SOURCE GeneReport for Unigene cluster for ABCF2 Gene:

Hs.654958

Evidence on tissue expression from TISSUES for ABCF2 Gene

  • Intestine(4.4)
  • Lung(4.3)
  • Skin(2.8)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with ABCF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCF2 Gene

Orthologs for ABCF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABCF2 30 31
  • 99.74 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABCF2 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCF2 30 31
  • 94.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABCF2 30 31
  • 93.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ABCF2 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Abcf2 30 17 31
  • 91.87 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ABCF2 30 31
  • 80.74 (n)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia abcf2-prov 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.6657 30
Zebrafish
(Danio rerio)
Actinopterygii BX322787.1 31
  • 87 (a)
OneToMany
abcf2a 30 31
  • 76.53 (n)
OneToMany
abcf2 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10004 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002693 30
  • 67.71 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9281 30 31 32
  • 65.39 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea abcf-2 30 31
  • 61.83 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR232C 30
  • 55.12 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01452g 30
  • 54.81 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARB1 30 31
  • 52.89 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GCN1 30
  • 61.42 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1549 30
Soybean
(Glycine max)
eudicotyledons Gma.7643 30
Rice
(Oryza sativa)
Liliopsida Os09g0572400 30
  • 64.68 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.28668 30
Corn
(Zea mays)
Liliopsida Zm.2713 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5307 31
  • 60 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU08920 30
  • 56.7 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3407 30
Species where no ortholog for ABCF2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ABCF2 Gene

ENSEMBL:
Gene Tree for ABCF2 (if available)
TreeFam:
Gene Tree for ABCF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCF2: view image

Paralogs for ABCF2 Gene

Paralogs for ABCF2 Gene

(22) SIMAP similar genes for ABCF2 Gene using alignment to 5 proteins:

  • ABCF2_HUMAN
  • C9JHK9_HUMAN
  • C9JZV3_HUMAN
  • L0R4T3_HUMAN
  • Q75MJ1_HUMAN

Pseudogenes.org Pseudogenes for ABCF2 Gene

genes like me logo Genes that share paralogs with ABCF2: view

Variants for ABCF2 Gene

Additional dbSNP identifiers (rs#s) for ABCF2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABCF2 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
esv2735396 CNV deletion 23290073
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv435860 CNV deletion 17901297
nsv609035 CNV loss 21841781
nsv831188 CNV loss 17160897
nsv951649 CNV deletion 24416366

Variation tolerance for ABCF2 Gene

Residual Variation Intolerance Score: 4.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 52.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCF2 Gene

Disorders for ABCF2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ABCF2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
osteogenesis imperfecta, type i
  • oi1
- elite association - COSMIC cancer census association via MalaCards
Search ABCF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ABCF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCF2 Gene

Publications for ABCF2 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4
  5. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F … Valle G (Yeast (Chichester, England) 2001) 3 4

Products for ABCF2 Gene

  • Signalway Proteins for ABCF2

Sources for ABCF2 Gene