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Aliases for ABCA8 Gene

Aliases for ABCA8 Gene

  • ATP Binding Cassette Subfamily A Member 8 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 8 2 3
  • ATP-Binding Cassette Sub-Family A Member 8 3
  • KIAA0822 4

External Ids for ABCA8 Gene

Previous GeneCards Identifiers for ABCA8 Gene

  • GC17M066662
  • GC17M069823
  • GC17M067327
  • GC17M067460
  • GC17M064376
  • GC17M066863
  • GC17M062249

Summaries for ABCA8 Gene

Entrez Gene Summary for ABCA8 Gene

  • The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for ABCA8 Gene

ABCA8 (ATP Binding Cassette Subfamily A Member 8) is a Protein Coding gene. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA9.

UniProtKB/Swiss-Prot for ABCA8 Gene

  • ATP-dependent lipophilic drug transporter.

Gene Wiki entry for ABCA8 Gene

Additional gene information for ABCA8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA8 Gene

Genomics for ABCA8 Gene

GeneHancer (GH) Regulatory Elements for ABCA8 Gene

Promoters and enhancers for ABCA8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J068955 Promoter/Enhancer 1.2 EPDnew ENCODE 650.7 0.0 -27 0.2 PKNOX1 ATF1 NFATC3 TAF1 ZBTB21 GTF2E2 RAD21 CHAMP1 YY1 POLR2B ABCA8 ABCA9-AS1 GC17M068986
GH17J068956 Enhancer 0.6 Ensembl 668.8 +0.3 307 0.2 ATF1 SMAD5 RXRA GTF2E2 E2F5 CEBPB REST CEBPG YY1 IRF9 ABCA8 ABCA9-AS1
GH17J068773 Enhancer 1.4 Ensembl ENCODE dbSUPER 16.7 +179.0 178987 5 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS ABCA10 ABCA8 BPTF ABCA9 ABCA6 WIPI1 LINC01482 GC17P068795 LOC105371877
GH17J068790 Enhancer 1.4 Ensembl ENCODE dbSUPER 16 +162.0 162047 6.5 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 ATF7 FOS RUNX3 ABCA10 ABCA8 ABCA9 ENSG00000267250 GC17P068795 LOC105371877
GH17J068908 Enhancer 1.1 Ensembl ENCODE 11.7 +45.5 45459 3.7 PKNOX1 FOXA2 ETS1 ZNF766 ATF7 FOS RXRA KAT8 PPARGC1A NFIL3 ABCA8 ABCA10 GC17M068868 ABCA9-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCA8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCA8 gene promoter:
  • GR-alpha
  • GR
  • HFH-3
  • FOXI1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • AREB6
  • FOXL1
  • SREBP-1c

Genomic Locations for ABCA8 Gene

Genomic Locations for ABCA8 Gene
88,122 bases
Minus strand
88,104 bases
Minus strand

Genomic View for ABCA8 Gene

Genes around ABCA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA8 Gene

Proteins for ABCA8 Gene

  • Protein details for ABCA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family A member 8
    Protein Accession:
    Secondary Accessions:
    • A1L3U3
    • C9JQE6
    • Q86WW0

    Protein attributes for ABCA8 Gene

    1581 amino acids
    Molecular mass:
    179245 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA74845.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCA8 Gene


neXtProt entry for ABCA8 Gene

Post-translational modifications for ABCA8 Gene

  • Glycosylation at Asn908, Asn555, posLast=484484, Asn243, and Asn84
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCA8 Gene

Domains & Families for ABCA8 Gene

Gene Families for ABCA8 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCA8 Gene

Suggested Antigen Peptide Sequences for ABCA8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ABC transporter superfamily. ABCA family.
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA8: view

Function for ABCA8 Gene

Molecular function for ABCA8 Gene

UniProtKB/Swiss-Prot Function:
ATP-dependent lipophilic drug transporter.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=30.4 uM for estradiol-beta-glucuronide {ECO:0000269 PubMed:12379217}; KM=0.1 uM for LTC4 {ECO:0000269 PubMed:12379217}; KM=10.3 uM for taurochlorate {ECO:0000269 PubMed:12379217}; KM=5.0 uM for PAH {ECO:0000269 PubMed:12379217}; KM=0.5 uM for estrone sulfate {ECO:0000269 PubMed:12379217}; KM=0.4 uM for ochratoxin A {ECO:0000269 PubMed:12379217};

Phenotypes From GWAS Catalog for ABCA8 Gene

Gene Ontology (GO) - Molecular Function for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008559 xenobiotic transmembrane transporting ATPase activity TAS --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA,IDA 12379217
genes like me logo Genes that share ontologies with ABCA8: view
genes like me logo Genes that share phenotypes with ABCA8: view

Animal Model Products

miRNA for ABCA8 Gene

miRTarBase miRNAs that target ABCA8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABCA8 Gene

Localization for ABCA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA8 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

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 ABCA8 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA,IBA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with ABCA8: view

Pathways & Interactions for ABCA8 Gene

genes like me logo Genes that share pathways with ABCA8: view

Pathways by source for ABCA8 Gene

1 KEGG pathway for ABCA8 Gene

Interacting Proteins for ABCA8 Gene

Gene Ontology (GO) - Biological Process for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006855 drug transmembrane transport IEA --
GO:0006869 lipid transport IBA --
GO:0042908 xenobiotic transport IEA --
GO:0055085 transmembrane transport IEA,TAS --
genes like me logo Genes that share ontologies with ABCA8: view

No data available for SIGNOR curated interactions for ABCA8 Gene

Drugs & Compounds for ABCA8 Gene

No Compound Related Data Available

Transcripts for ABCA8 Gene

Unigene Clusters for ABCA8 Gene

ATP-binding cassette, sub-family A (ABC1), member 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP2: -

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29

Relevant External Links for ABCA8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA8 Gene

This gene is overexpressed in Nerve - Tibial (x5.0).

Protein differential expression in normal tissues from HIPED for ABCA8 Gene

This gene is overexpressed in Retina (15.5), Tonsil (7.8), and Testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABCA8 Gene

Protein tissue co-expression partners for ABCA8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCA8 Gene:


SOURCE GeneReport for Unigene cluster for ABCA8 Gene:


mRNA Expression by UniProt/SwissProt for ABCA8 Gene:

Tissue specificity: Widely expressed with higher expression in heart, skeletal muscle and liver.

Evidence on tissue expression from TISSUES for ABCA8 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with ABCA8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA8 Gene

Orthologs for ABCA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCA8 34 33
  • 99.38 (n)
(Canis familiaris)
Mammalia ABCA8 34 33
  • 84 (n)
(Mus musculus)
Mammalia Abca8b 16 34 33
  • 79.12 (n)
(Rattus norvegicus)
Mammalia Abca8 33
  • 77.98 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 60 (a)
-- 34
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 56 (a)
(Gallus gallus)
Aves ABCA8 33
  • 58.61 (n)
-- 34
  • 51 (a)
-- 34
  • 46 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 44 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485734 33
  • 59.2 (n)
(Danio rerio)
Actinopterygii abch1 34
  • 14 (a)
Dr.7652 33
fruit fly
(Drosophila melanogaster)
Insecta CG8908 34
  • 20 (a)
CG1494 34
  • 16 (a)
CG1801 34
  • 15 (a)
CG43672 34
  • 14 (a)
CG11147 34
  • 13 (a)
CG33970 34
  • 12 (a)
(Caenorhabditis elegans)
Secernentea abt-5 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
Species where no ortholog for ABCA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCA8 Gene

Gene Tree for ABCA8 (if available)
Gene Tree for ABCA8 (if available)
Evolutionary constrained regions (ECRs) for ABCA8: view image

Paralogs for ABCA8 Gene

Paralogs for ABCA8 Gene

(6) SIMAP similar genes for ABCA8 Gene using alignment to 3 proteins:

  • Q49AI9_HUMAN
genes like me logo Genes that share paralogs with ABCA8: view

Variants for ABCA8 Gene

Sequence variations from dbSNP and Humsavar for ABCA8 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000023742 -- 68,930,339(-) T/C intron_variant
rs1000024467 -- 68,873,168(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000057253 -- 68,923,408(-) C/T intron_variant
rs1000111326 -- 68,888,615(-) TATATAT/TATATATAT genic_downstream_transcript_variant, intron_variant
rs1000123481 -- 68,920,315(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA8 Gene

Variant ID Type Subtype PubMed ID
esv3554702 CNV deletion 23714750
nsv1061151 CNV gain 25217958
nsv1066412 CNV loss 25217958
nsv1113885 CNV deletion 24896259
nsv479405 CNV novel sequence insertion 20440878
nsv575928 CNV loss 21841781
nsv575929 CNV loss 21841781
nsv7296 OTHER inversion 18451855

Variation tolerance for ABCA8 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.47; 85.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCA8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA8 Gene

Disorders for ABCA8 Gene

Additional Disease Information for ABCA8

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ABCA8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABCA8 Gene

Publications for ABCA8 Gene

  1. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 44 58
  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 44 58
  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 58
  4. Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. (PMID: 12111378) Iida A … Nakamura Y (Journal of human genetics 2002) 3 4 58
  5. Functional analysis of ABCA8, a new drug transporter. (PMID: 12379217) Tsuruoka S … Fujimura A (Biochemical and biophysical research communications 2002) 3 4 58

Products for ABCA8 Gene

Sources for ABCA8 Gene

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