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... See more...

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 4
  • EC 3.6.3.41 52
  • KIAA0822 4
  • EC 3.6.3 52

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. Diseases associated with ABCA8 include Ichthyosis, Congenital, Autosomal Recessive 4B and Autosomal Recessive Congenital Ichthyosis. 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 Summary for ABCA8 Gene

Gene Wiki entry for ABCA8 Gene

Additional gene information for ABCA8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J068956 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 519.2 +1.2 1207 3.2 GTF2E2 POLR2A CEBPG CEBPB POLR2H TBP JUND SIN3B SUPT5H CHAMP1 ABCA8 ABCA9-AS1
GH17J068773 Enhancer 1.1 ENCODE dbSUPER 16.7 +179.0 178987 5 ZNF217 CTCF POLR2G NCOR1 ZIC2 TCF7 AFF1 REST ZBTB25 TOE1 ABCA10 ABCA8 ABCA9 ABCA6 WIPI1 LINC01482 piR-48759-131 piR-60246-072
GH17J068790 Enhancer 1.1 ENCODE dbSUPER 16 +162.0 162047 6.5 EP300 FOXK2 CTCF TCF12 POLR2G NCOR1 FOS KDM6A TCF7 FOXA1 ABCA10 ABCA8 BPTF ABCA9 ENSG00000267250 piR-60246-072 piR-48759-131
GH17J068908 Enhancer 0.9 ENCODE 11.7 +45.5 45459 3.7 CTCF NCOR1 JUND FOS KDM6A ZBTB11 TCF7 ZBTB25 SKI TEAD1 ABCA8 ABCA10 lnc-ABCA9-3 ABCA9-AS1
GH17J068849 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.5 +102.7 102730 6.5 ZNF195 NFIC FOS ZNF112 NFIB NFIA LCORL MYC ZNF544 ENSG00000265055 ABCA8 RDM1P3 piR-40110-286 piR-39858-280 LOC105371874
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCA8

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

Genomic Locations for ABCA8 Gene

Genomic Locations for ABCA8 Gene
chr17:68,867,287-68,955,408
(GRCh38/hg38)
Size:
88,122 bases
Orientation:
Minus strand
chr17:66,863,430-66,951,533
(GRCh37/hg19)
Size:
88,104 bases
Orientation:
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:
    O94911-ABCA8_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 8
    Protein Accession:
    O94911
    Secondary Accessions:
    • A1L3U3
    • C9JQE6
    • Q86WW0

    Protein attributes for ABCA8 Gene

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

    Alternative splice isoforms for ABCA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA8 Gene

Selected DME Specific Peptides for ABCA8 Gene

O94911:
  • DEPTAGLD
  • NGAGKST
  • LDEPTAG
  • DEPTAGLDP

Post-translational modifications for ABCA8 Gene

  • Glycosylation at Asn84, Asn243, Asn484, Asn555, and Asn908
  • Modification sites at PhosphoSitePlus

Domains & Families for ABCA8 Gene

Gene Families for ABCA8 Gene

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

Protein Domains for ABCA8 Gene

Suggested Antigen Peptide Sequences for ABCA8 Gene

GenScript: Design optimal peptide antigens:
  • ABCA8 protein (A1L3U3_HUMAN)
  • ATP-binding cassette sub-family A member 8 (ABCA8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94911

UniProtKB/Swiss-Prot:

ABCA8_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCA family.
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};

Enzyme Numbers (IUBMB) for ABCA8 Gene

Phenotypes From GWAS Catalog for ABCA8 Gene

Gene Ontology (GO) - Molecular Function for ABCA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IDA,IEA 12379217
genes like me logo Genes that share ontologies with ABCA8: view
genes like me logo Genes that share phenotypes with ABCA8: view

Animal Models for ABCA8 Gene

MGI Knock Outs for ABCA8:
  • Abca8b Abca8b<tm1b(EUCOMM)Wtsi>
  • Abca8b Abca8b<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ABCA8 Gene

miRTarBase miRNAs that target ABCA8

Clone Products

No data available for Human Phenotype Ontology , 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

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 ABCA8 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

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:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
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:0006869 lipid transport IBA 21873635
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

mRNA/cDNA for ABCA8 Gene

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

CRISPR Products

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 ^
SP1:
SP2: -
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ABCA8 Gene

GeneLoc Exon Structure for
ABCA8

Expression for ABCA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCA8

SOURCE GeneReport for Unigene cluster for ABCA8 Gene:

Hs.58351

mRNA Expression by UniProt/SwissProt for ABCA8 Gene:

O94911-ABCA8_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia ABCA8 31 30
  • 99.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA8 31 30
  • 84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abca8b 17 31 30
  • 79.12 (n)
rat
(Rattus norvegicus)
Mammalia Abca8 30
  • 77.98 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 60 (a)
ManyToMany
-- 31
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABCA8 30
  • 58.61 (n)
-- 31
  • 51 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 44 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485734 30
  • 59.2 (n)
zebrafish
(Danio rerio)
Actinopterygii abch1 31
  • 14 (a)
ManyToMany
Dr.7652 30
fruit fly
(Drosophila melanogaster)
Insecta CG8908 31
  • 20 (a)
ManyToMany
CG1494 31
  • 16 (a)
ManyToMany
CG1801 31
  • 15 (a)
ManyToMany
CG43672 31
  • 14 (a)
ManyToMany
CG11147 31
  • 13 (a)
ManyToMany
CG33970 31
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea abt-5 31
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ABCA8 (if available)
TreeFam:
Gene Tree for ABCA8 (if available)
Aminode:
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:

  • ABCA8_HUMAN
  • K7ELK9_HUMAN
  • Q49AI9_HUMAN
genes like me logo Genes that share paralogs with ABCA8: view

Variants for ABCA8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCA8 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
709319 Benign: not provided 68,883,824(-) C/T MISSENSE_VARIANT
764804 Likely Benign: not provided 68,929,618(-) G/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
769926 Benign: not provided 68,876,704(-) C/G SPLICE_ACCEPTOR_VARIANT
778145 Likely Benign: not provided 68,894,976(-) G/A SYNONYMOUS_VARIANT
778146 Benign: not provided 68,919,463(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ABCA8 Gene

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)
ABCA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA8

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCA8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ABCA8 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ABCA8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCA8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCA8: view

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

Publications for ABCA8 Gene

  1. Functional analysis of ABCA8, a new drug transporter. (PMID: 12379217) Tsuruoka S … Fujimura A (Biochemical and biophysical research communications 2002) 2 3 4 54
  2. ABCA8 stimulates sphingomyelin production in oligodendrocytes. (PMID: 23560799) Kim WS … Halliday GM (The Biochemical journal 2013) 2 3 54
  3. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 41 54
  4. 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 54
  5. 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 54

Products for ABCA8 Gene

Sources for ABCA8 Gene