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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCA8 Gene

protein-coding   GIFtS: 55
GCID: GC17M066863

ATP-binding cassette, sub-family A (ABC1), member 8
 Explore 4 diseases affiliated with
ABCA8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCA8    

Aliases
for ABCA8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 81 2
KIAA08221 3 5
ATP-Binding Cassette Sub-Family A Member 82
EC 3.6.38
EC 3.6.3.418

External Ids:    HGNC: 381   Entrez Gene: 103512   Ensembl: ENSG000001413387   OMIM: 6125055   UniProtKB: O949113   

Export aliases for ABCA8 gene to outside databases

Previous GC identifers: GC17M066662 GC17M069823 GC17M067327 GC17M067460 GC17M064376 GC17M062249


Summaries
for ABCA8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ABCA8:
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 function of this protein has not yet been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911
Function: ATP-dependent lipophilic drug transporter

Gene Wiki entry for ABCA8


Genomic Views
for ABCA8 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCA8 gene promoter:
         HFH-3   GR   SREBP-1c   FOXL1   Meis-1b   FOXI1   AREB6   GR-alpha   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABCA8 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCA8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24

ABCA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA8 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M066863:  view genomic region     (about GC identifiers)

Start:
 66,863,430 bp from pter      End:
 66,951,533 bp from pter
Size:
 88,104 bases      Orientation:
 minus strand

Proteins
for ABCA8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 8  
Size: 1581 amino acids; 179245 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (Probable)
Sequence caution: Sequence=BAA74845.2; Type=Erroneous initiation;
Secondary accessions: Q86WW0
Alternative splicing: 2 isoforms:  O94911-1   O94911-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABCA8: NX_O94911

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94911

    • 4 DME Specific Peptides for ABCA8 (O94911)
     LDEPTAG  NGAGKST  DEPTAGLD  DEPTAGLDP 

    ABCA8 Protein expression data from MOPED and PaxDb:    About this image 
    ABCA8 Protein Expression
    REFSEQ proteins: NP_009099.1  
    ENSEMBL proteins: 
     ENSP00000269080   ENSP00000467271   ENSP00000467186   ENSP00000466126   ENSP00000402814  
    Reactome Protein details: O94911
    Human Recombinant Protein Products for ABCA8: 
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    Novus Biologicals ABCA8 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ABCA8

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    ABCA8 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ABCA8

    Protein Domains /
    Families
    for ABCA8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCA8 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003439 ABC_transporter-like
     IPR003593 AAA+_ATPase
     IPR026082 ABC_A

    Graphical View of Domain Structure for InterPro Entry O94911

    ProtoNet protein and cluster: O94911

    UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911
    Similarity: Belongs to the ABC transporter superfamily. ABCA family
    Similarity: Contains 2 ABC transporter domains


    Function
    for ABCA8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCA8_HUMAN, O94911
    Function: ATP-dependent lipophilic drug transporter
    Biophysicochemical properties: Kinetic parameters: KM=30.4 uM for estradiol-beta-glucuronide; KM=0.1 uM for LTC4;
    KM=10.3 uM for taurochlorate; KM=5.0 uM for PAH; KM=0.5 uM for estrone sulfate; KM=0.4 uM for ochratoxin A;

         Enzyme Numbers (IUBMB): EC 3.6.3.412 EC 3.6.32

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances IDA12379217
         
    ABCA8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCA8:
     Increased cell number in S 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ABCA8 

    miRNA
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    hsa-mir-192 (MIRT004151)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCA8
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCA8 (see all 9):
    hsa-miR-4264 hsa-miR-3163 hsa-miR-374b hsa-miR-3201 hsa-miR-374a hsa-miR-138-2* hsa-miR-548c-3p hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmid: ABCA8 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCA8 (see all 4)
    OriGene shRNA RFP: ABCA8
    OriGene siRNA: ABCA8
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    Sirion Biotech Custom design and validation of potent shRNA sequences against ABCA8 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ABCA8 
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCA8 

    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA8


    Pathways & Interactions
    for ABCA8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABC transporters0.70
    2SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for ABCA8
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules


    1         Kegg Pathway  (Kegg details for ABCA8):
        ABC transporters


    ABCA8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCA8

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IDA12379217
    GO:0055085transmembrane transport TAS--

    ABCA8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCA8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCA8
    Search CenterWatch for drugs/clinical trials and news about ABCA8 

    Transcripts
    for ABCA8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ABCA8 gene: 
    NM_007168.2  

    Unigene Cluster for ABCA8:

    ATP-binding cassette, sub-family A (ABC1), member 8
    Hs.58351  [show with all ESTs]
    Unigene Representative Sequence: NM_007168
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269080(uc002jhp.3 uc002jhq.3 uc010wqq.2 uc002jhr.3)
    ENST00000586539 ENST00000588458 ENST00000586292 ENST00000591459 ENST00000589980
    ENST00000541225(uc010wqr.2) ENST00000589533 ENST00000590359 ENST00000587206
    ENST00000428549(uc002jhs.3 uc002jht.3) ENST00000585850 ENST00000585531
    ENST00000430352

    miRNA
    Products:             		 OriGene 3'-UTR Clone: ABCA8
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCA8
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCA8 (see all 9):
    hsa-miR-4264 hsa-miR-3163 hsa-miR-374b hsa-miR-3201 hsa-miR-374a hsa-miR-138-2* hsa-miR-548c-3p hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmid: ABCA8 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCA8 (see all 4)
    OriGene shRNA RFP: ABCA8
    OriGene siRNA: ABCA8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCA8
    Sirion Biotech Custom design and validation of potent shRNA sequences against ABCA8 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABCA8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ABCA8 (NM_007168)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCA8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCA8 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABCA8
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCA8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCA8

    Additional cDNA sequence: 

    AB020629.1 AK295876.1 AK304286.1 AK304360.1 BC010392.1 BC024003.1 BC037309.1 BC047765.1 
    BC094689.1 BC130280.1 BC143971.1 BC143972.1 

    16 DOTS entries:

    DT.111969  DT.95268499  DT.100742812  DT.100645320  DT.95195812  DT.102830714  DT.40112795  DT.95355566 
    DT.97772757  DT.95261513  DT.92423835  DT.95268498  DT.92033695  DT.99933116  DT.99989793  DT.99998402 

    24/121 AceView cDNA sequences (see all 121):

    BU581342 BQ717280 BC047765 N63323 C01150 AA805221 BX952211 BM673409 
    AA634308 BM091115 BQ880430 BU146319 BM091421 AU099668 AW316744 CA395306 
    BM665457 BF223083 AI888529 AW026906 BX105082 AA429723 AI203957 BP381487 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA8    About this scheme

    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:                              


    ECgene alternative splicing isoforms for ABCA8

    Expression
    for ABCA8 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCA8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTGAGTAGG
    ABCA8 Expression
    About this image

    ABCA8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABCA8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCA8

    SOURCE GeneReport for Unigene cluster: Hs.58351

    UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911
    Tissue specificity: Widely expressed with higher expression in heart, skeletal muscle and liver

        SABiosciences Custom PCR Arrays for ABCA8
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA8

    Orthologs
    for ABCA8 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ABCA8 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ABCA81 ATP-binding cassette, sub-family A (ABC1), member 8 58.81(n)
    49.41(a)    		   417440  XM_415691.3  XP_415691.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 45(a)
    		 1 → many
    		 GL343630.1(40671-147942)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.76522 Transcribed sequence with weak similarity to protein more 74.22(n)    57064737 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 25(a)
    		 1 → many
    		 GroupUn.89(35003-42667)


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

    Paralogs
    for ABCA8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCA8 gene
    ABCG12  ABCA12  ABCA102  ABCA132  ABCA32  ABCG42  ABCA122  ABCG82  
    ABCA42  ABCA72  ABCG52  ABCA22  ABCA92  ABCA62  ABCA52  ABCG22  
    13 SIMAP similar genes for ABCA8 using alignment to 5 protein entries:     ABCA8_HUMAN (see all proteins):
    DKFZp686F2450    ABCA9    ABCA10    DKFZp686K07118    ABCA6    ABCA2
    ABC2    ABCA11P    DKFZp547P193    ABCA5    ABCG2    ABCA4
    DKFZp434E1030

    ABCA8 for paralogs           About GeneDecksing



    Genomic Variants
    for ABCA8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1775 NCBI SNPs in ABCA8 are shown (see all 1775)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1835608971,2
    		--66862939(+) TATCTA/GAAAAT 1 -- ds50010--------
    rs1882993511,2
    		--66863174(+) GTCTGC/GTTTTA 1 -- ds50010--------
    rs1923007621,2
    		--66863561(+) GACATA/CACTAA 1 -- ut310--------
    rs1476591961,2
    		--66863632(+) ACAATA/GTATTT 1 -- ut310--------
    rs1174670551,2
    		--66863671(+) ATGCCT/AACATC 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs37444901,2
    		C,F--66863915(+) AAACAA/GAATTT 1 -- ut311Minor allele frequency- G:0.01--542
    rs1841475781,2
    		--66863945(+) TTATAC/TGATCA 1 -- ut310--------
    rs770736591,2
    		F--66863955(+) ATGTAA/GAAGTA 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs1405540931,2
    		C--66864031(+) GAGGA-/GGGTTG 1 -- ut310--------
    rs1888712401,2
    		--66864075(+) TGGCAC/TTTACC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ABCA8 (66863430 - 66951533 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ABCA8
         1 Inversion: 37197

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    Disorders / Diseases
    for ABCA8 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ABCA8 for disorders           About GeneDecksing

    OMIM gene information: 612505    OMIM disorders: --

    4 diseases for ABCA8:    About MalaCards
    pharyngitis    pneumonia    tuberculosis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ABCA8 (1 document)

    Export disorders for ABCA8 gene to outside databases

    Publications
    for ABCA8 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ABCA8 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ABCA8)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Functional analysis of ABCA8, a new drug transporter. (PubMed id 12379217)1, 2 Tsuruoka S.... Fujimura A. (2002)
    3. 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. (PubMed id 12111378)1, 2 Iida A.... Nakamura Y. (2002)
    4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
    5. Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain mic rovessels. (PubMed id 21707071)1 Shawahna R....Scherrmann J.M. (2011)
    6. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
    7. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1 Saito A....Kamatani N. (2009)
    8. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for ABCA8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCA8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10351 HGNC: 38 AceView: ABCA8 Ensembl:ENSG00000141338 euGenes: HUgn10351
    ECgene: ABCA8 Kegg: 10351 H-InvDB: ABCA8

    Other Databases showing ABCA8 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0822

    Specialized Databases showing ABCA8 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCA8 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O94911

    Intellectual Property
    for ABCA8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ABCA8 gene:
    Search GeneIP for patents involving ABCA8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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