Free for academic non-profit institutions. Other users need a Commercial license

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
  • EC 63
  • KIAA0822 4
  • EC 3.6.3 63

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 ABC-family proteins mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include GTP binding and ATPase activity. An important paralog of this gene is ABCA4.

UniProtKB/Swiss-Prot for ABCA8 Gene

  • ATP-dependent lipophilic drug transporter.

Gene Wiki entry for ABCA8 Gene

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

Genomics for ABCA8 Gene

Regulatory Elements for ABCA8 Gene

Enhancers for ABCA8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCA8 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCA8 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCA8 Gene

68,867,287 bp from pter
68,955,408 bp from pter
88,122 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

Proteomics data for ABCA8 Gene at MOPED

Selected DME Specific Peptides for ABCA8 Gene

Post-translational modifications for ABCA8 Gene

  • Glycosylation at Asn 84, Asn 243, Asn 484, Asn 555, and Asn 908
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ABCA8

Domains & Families for ABCA8 Gene

Gene Families for ABCA8 Gene

Protein Domains for ABCA8 Gene

Suggested Antigen Peptide Sequences for ABCA8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
  • Contains 2 ABC transporter domains.
  • 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 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};
UniProtKB/Swiss-Prot Function:
ATP-dependent lipophilic drug transporter.

Enzyme Numbers (IUBMB) for ABCA8 Gene

Gene Ontology (GO) - Molecular Function for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008559 xenobiotic-transporting ATPase activity TAS --
genes like me logo Genes that share ontologies with ABCA8: view

Phenotypes for ABCA8 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCA8

CRISPR Products

miRNA for ABCA8 Gene

miRTarBase miRNAs that target ABCA8

No data available for 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

Jensen Localization Image for ABCA8 Gene COMPARTMENTS Subcellular localization image for ABCA8 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3

No data available for Gene Ontology (GO) - Cellular Components for ABCA8 Gene

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:0042908 xenobiotic transport 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:

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 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

SOURCE GeneReport for Unigene cluster for ABCA8 Gene Hs.58351

mRNA Expression by UniProt/SwissProt for ABCA8 Gene

Tissue specificity: Widely expressed with higher expression in heart, skeletal muscle and liver.
genes like me logo Genes that share expression patterns with ABCA8: view

Protein tissue co-expression partners for ABCA8 Gene

- Elite partner

Primer Products

Orthologs for ABCA8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA8 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia ABCA8 35
  • 84 (n)
  • 79.56 (a)
ABCA8 36
  • 77 (a)
(Mus musculus)
Mammalia Abca8b 35
  • 79.12 (n)
  • 75.63 (a)
Abca8b 16
Abca8b 36
  • 73 (a)
(Pan troglodytes)
Mammalia ABCA8 35
  • 99.38 (n)
  • 99.2 (a)
ABCA8 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Abca8 35
  • 77.98 (n)
  • 72.74 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
-- 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 56 (a)
(Gallus gallus)
Aves ABCA8 35
  • 58.61 (n)
  • 48.54 (a)
-- 36
  • 46 (a)
-- 36
  • 51 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 44 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485734 35
  • 59.2 (n)
  • 50.48 (a)
(Danio rerio)
Actinopterygii Dr.7652 35
abch1 36
  • 14 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11147 36
  • 13 (a)
CG1494 36
  • 16 (a)
CG1801 36
  • 15 (a)
CG33970 36
  • 12 (a)
CG43672 36
  • 14 (a)
CG8908 36
  • 20 (a)
(Caenorhabditis elegans)
Secernentea abt-5 36
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
Species with no ortholog for ABCA8:
  • 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)

Paralogs for ABCA8 Gene

Paralogs for ABCA8 Gene

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

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 Sequence Context AA Info Type
rs16973446 - 68,932,319(+) CATTG(C/T)CATCA reference, missense
rs4147979 - 68,929,183(-) TCACC(A/G)GCCTG reference, missense
rs12150510 - 68,922,277(+) CTTTA(A/T)ATTCT reference, missense
rs16973424 - 68,907,860(+) AACAC(A/C/G)TATTT reference, missense
rs35621847 - 68,927,942(+) AAATC(A/G)CCAAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv908694 CNV Loss 21882294
nsv7296 OTHER Inversion 18451855
nsv908695 CNV Loss 21882294
nsv908696 CNV Loss 21882294
dgv3244n71 CNV Loss 21882294
dgv3245n71 CNV Loss 21882294
dgv3246n71 CNV Loss 21882294
nsv908704 CNV Loss 21882294

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)

Relevant External Links for ABCA8 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for ABCA8 Gene

Relevant External Links for ABCA8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 T.M. … Kathiresan S. (Nature 2010) 3 48 67
  2. ABCA8 stimulates sphingomyelin production in oligodendrocytes. (PMID: 23560799) Kim W.S. … Halliday G.M. (Biochem. J. 2013) 3
  3. Increased expression of ABCA8 in multiple system atrophy brain is associated with changes in pathogenic proteins. (PMID: 23948991) Bleasel J.M. … Kim W.S. (J Parkinsons Dis 2013) 3
  4. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 3
  5. ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma. (PMID: 24219920) Ingram W.J. … Hallahan A.R. (Exp Hematol Oncol 2013) 3

Products for ABCA8 Gene

Sources for ABCA8 Gene