Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ABCA8 Gene

protein-coding   GIFtS: 58
GCID: GC17M066863

ATP-Binding Cassette, Sub-Family A (ABC1), Member 8

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 81 2
KIAA08223 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


(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 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 function of this protein has not yet been determined. (provided by RefSeq, Jul
2008)

GeneCards Summary for ABCA8 Gene: 
ABCA8 (ATP-binding cassette, sub-family A (ABC1), member 8) is a protein-coding gene. Diseases associated with ABCA8 include tuberculosis, and among its related super-pathways are ABC-family proteins mediated transport and SLC-mediated transmembrane transport. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and ATP binding. An important paralog of this gene is ABCG1.

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

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
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 plasmidABCA8 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ABCA8 at MOPED 

Post-translational modifications:

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

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

    ABCA8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ABCA8
    GenScript Custom Purified and Recombinant Proteins Services for ABCA8
    Novus Biologicals ABCA8 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    ABCA8 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ABCA8
    GenScript Custom Superior Antibodies Services for ABCA8
    Novus Biologicals ABCA8 Antibodies
    Abcam antibodies for ABCA8
    Cloud-Clone Corp. Antibodies for ABCA8 
    Search ThermoFisher Antibodies for ABCA8
    LSBio Antibodies in human, mouse, rat for ABCA8 

    Assay Products for ABCA8: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ABCA8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABCA8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABCA8 
    Cloud-Clone Corp. CLIAs for ABCA8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABCA: ATP binding cassette transporters / subfamily A

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCA8 
    ABCA subfamily

    4 InterPro protein domains:
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     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


    ABCA8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003924GTPase activity ----
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding ----
    GO:0016887ATPase activity ----
         
    ABCA8 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCA8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABCA8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCA8 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCA8 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABCA8:
    hsa-mir-192 (MIRT004151)

    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 plasmidABCA8 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ABCA8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCA8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABCA8
    Sirion Biotech Customized adenovirus for overexpression of ABCA8

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ABCA8 (see all 5)
    OriGene ORF clones in 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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCA8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCA8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ABCA8
    Search LifeMap BioReagents cell lines for ABCA8
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA8


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABCA8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.70
    ABC transporters0.70
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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:
         
    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 plasmidABCA8 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ABCA8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCA8
    Clone
    Products:
         
    OriGene clones in human, mouse for ABCA8 (see all 5)
    OriGene ORF clones in 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
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ABCA8
    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 mRNA 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):

    BQ883751 BM665457 C01150 AA805221 BX952211 AB020629 N63323 AW026906 
    BP381487 AI888529 BX105082 CD677363 CD514231 AI272904 BM091421 CA395306 
    AW316744 AI287342 AA429723 AV735192 AA634308 BM091115 BF223083 BQ717280 

    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

    (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)      ABCA8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGAGTAGG
    ABCA8 Expression
    About this image


    ABCA8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Mature Cardiac Fibroblasts Myocardium
             Atrioventricular Node
             Coronary Artery Smooth Muscle Cells (CASMC)   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Trigeminal Ganglion   
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor E72
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Mesenchymal Stem Cells (Muscoskeletal System)    fully expand to see all 2 entries
             Human Mesenchymal Stem Cells (hMSC)-1   

    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
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ABCA8
    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
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA8

    (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 chordates.

    Orthologs for ABCA8 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abca8b1 , 5 ATP-binding cassette, sub-family A (ABC1), member 8b1, 5 79.07(n)1
    75.4(a)1
      11 (72.88 cM)5
    274041  NM_013851.21  NP_038879.21 
     1099321905 
    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 --
    --
    44(a)
    1 → many
    GL343630.1(35018-149208)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.76522 Transcribed sequence with weak similarity to protein more 74.22(n)    57064737 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCA8 gene
    ABCG12  ABCA102  ABCA132  ABCA32  ABCG82  ABCA22  ABCA62  ABCA52  
    ABCG22  ABCA12  ABCG42  ABCA42  ABCA122  ABCA72  ABCG52  ABCA92  
    14 SIMAP similar genes for ABCA8 using alignment to 5 protein entries:     ABCA8_HUMAN (see all proteins):
    DKFZp686F2450    ABCA9    ABCA10    DKFZp686K07118    ABCA6    ABCA13
    ABCA2    ABC2    ABCA11P    DKFZp547P193    ABCA5    ABCG2
    ABCA4    DKFZp434E1030

    ABCA8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/2099 SNPs in ABCA8 are shown (see all 2099)    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
    C--66863561(+) GACATA/CACTAA 1 -- ut310--------
    rs1476591961,2
    --66863632(+) ACAATA/GTATTT 1 -- ut310--------
    rs1174670551,2
    F--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
    rs1438064001,2
    C--66863931(+) TCTTAT/-CTAGA 1 -- ut311Minor allele frequency- -:0.00--542
    rs1841475781,2
    --66863945(+) TTATAC/TGATCA 1 -- ut310--------
    rs770736591,2
    C,F--66863955(+) ATGTAA/GAAGTA 1 -- ut311Minor allele frequency- G:0.03WA 118
    rs1405540931,2
    C--66864033(+) GAGGA-/GGGTTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ABCA8 (66863430 - 66951533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ABCA8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908694CNV Loss21882294
    dgv3244n71CNV Loss21882294
    nsv908704CNV Loss21882294
    dgv3245n71CNV Loss21882294
    nsv908696CNV Loss21882294
    dgv3246n71CNV Loss21882294
    nsv908695CNV Loss21882294
    nsv7296OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): ABCA8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCA8
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612505    OMIM disorders: --

    2 diseases for ABCA8:    About MalaCards
    tuberculosis    


    ABCA8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ABCA8
    Human Genome Epidemiology (HuGE) Navigator: ABCA8 (1 document)

    Export disorders for ABCA8 gene to outside databases

    (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 13):
    (articles sorted by number of sources associating them with ABCA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (2010)
    2. 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, 4 Saito A....Kamatani N. (2009)
    3. 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)
    4. Functional analysis of ABCA8, a new drug transporter. (PubMed id 12379217)1, 2 Tsuruoka S.... Fujimura A. (2002)
    5. 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)
    6. 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)
    7. ABCA8 stimulates sphingomyelin production in oligodend rocytes. (PubMed id 23560799)1 Kim W.S....Halliday G.M. (2013)
    8. 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)
    9. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    (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)

    (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

    (According to HUGE)
    About This Section
    HUGE: KIAA0822

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ABCA8  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ABCA8  
     OriGene qSTAR qPCR primer pairs in human, mouse for ABCA8   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ABCA8   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ABCA8   OriGene Custom Protein Services for ABCA8  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCA8
     QIAGEN SeqTarget long-range PCR primers for resequencing ABCA8
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA8
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCA8
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCA8
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCA8
     GenScript Custom Purified and Recombinant Proteins Services for ABCA8 GenScript cDNA clones with any tag delivered in your preferred vector for ABCA8
     GenScript Custom Assay Services for ABCA8 GenScript Custom Superior Antibodies Services for ABCA8
     GenScript Custom overexpressing Cell Line Services for ABCA8 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ABCA8 promoter
     Search Chromatin IP Primers for ABCA8
     RT2 qPCR Primer Assay in human, mouse, rat ABCA8
     GNC Network for ABCA8
     SABiosciences Custom PCR Arrays for ABCA8
     Search Tocris compounds for ABCA8
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ABCA8 antibodies
     ABCA8 proteins
     Antibodies for ABCA8
     See all of Abcam's Antibodies, Kits and Proteins for ABCA8
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ABCA8
     Antibodies for ABCA8
     ELISAs for ABCA8
     CLIAs for ABCA8
     Search LifeMap BioReagents cell lines for ABCA8
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA8
     SwitchGear 3'UTR luciferase reporter plasmids for ABCA8
     SwitchGear Promoter luciferase reporter plasmids for ABCA8
     Search ThermoFisher Antibodies for ABCA8
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCA8
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCA8
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABCA8
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression of ABCA8
     LSBio Antibodies in human, mouse, rat for ABCA8
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ABCA8 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4