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ABCA7 Gene

protein-coding   GIFtS: 61
GCID: GC19P001040

ATP-Binding Cassette, Sub-Family A (ABC1), Member 7

  Search for ABCA7
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 71 2     ATP-Binding Cassette Sub-Family A Member 72
Autoantigen SS-N2 3     EC 2.2.1.18
Macrophage ABC Transporter2 3     EC 3.6.38
ABCA-SSN2 3     EC 3.6.3.418
ABCX2 5     

External Ids:    HGNC: 371   Entrez Gene: 103472   Ensembl: ENSG000000646877   OMIM: 6054145   UniProtKB: Q8IZY23   

Export aliases for ABCA7 gene to outside databases

Previous GC identifers: GC19P001116 GC19P000981 GC19P000992 GC19P000812


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCA7 Gene:
The 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 intra-cellular 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. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest
expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet
known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ABCA7 Gene:
ABCA7 (ATP-binding cassette, sub-family A (ABC1), member 7) is a protein-coding gene. GO annotations related to this gene include transporter activity and phospholipid transporter activity. An important paralog of this gene is ABCA1.

UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2
Function: Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in
apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate
cellular ceramide homeostasis during keratinocytes differentiation

Gene Wiki entry for ABCA7 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCA7 gene promoter:
         Sp1   Tal-1   Pax-2a   AP-4   XBP-1   Tal-1beta   E47   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCA7 promoter sequence
   Search Chromatin IP Primers for ABCA7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCA7


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

ABCA7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA7 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P001040:  view genomic region     (about GC identifiers)

Start:
1,040,102 bp from pter      End:
1,065,571 bp from pter
Size:
25,470 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 7  
Size: 2146 amino acids; 234350 Da
Developmental stage: Expressed in fetal tissues. Strongly expressed in fetal liver
Secondary accessions: Q96S58 Q9BZC4 Q9NR73 Q9UKP8
Alternative splicing: 2 isoforms:  Q8IZY2-1   Q8IZY2-2   (Inactive for apoA-I-mediated lipid release)

Explore the universe of human proteins at neXtProt for ABCA7: NX_Q8IZY2

Explore proteomics data for ABCA7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys127
  • Glycosylation2 at Asn312
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for ABCA7 (Q8IZY2)
     LDEPTAG  GLGKLIA  LDEPTTG  NGAGKTT 


    See ABCA7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061985.2  
    ENSEMBL proteins: 
     ENSP00000263094   ENSP00000431473   ENSP00000433545   ENSP00000465322   ENSP00000437311  
     ENSP00000432031   ENSP00000414062  
    Reactome Protein details: Q8IZY2

    ABCA7 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ABCA7

     
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    Cloud-Clone Corp. ELISAs for ABCA7
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    Search eBioscience for ELISAs for ABCA7 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCA7
    ABCA subfamily

    5 InterPro protein domains:
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR026082 ABC_A
     IPR017871 ABC_transporter_CS

    Graphical View of Domain Structure for InterPro Entry Q8IZY2

    ProtoNet protein and cluster: Q8IZY2

    UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2
    Similarity: Belongs to the ABC transporter superfamily. ABCA family
    Similarity: Contains 2 ABC transporter domains


    Find genes that share domains with ABCA7           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCA7_HUMAN, Q8IZY2
    Function: Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in
    apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate
    cellular ceramide homeostasis during keratinocytes differentiation
    Induction: Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading
    from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation

         Enzyme Numbers (IUBMB): EC 3.6.3.412 EC 3.6.32 EC 2.2.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity TAS10873640
    GO:0005524ATP binding IEA--
    GO:0005548phospholipid transporter activity IEA--
    GO:0016887ATPase activity IEA--
         
    Find genes that share ontologies with ABCA7           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abca7):
     adipose tissue  homeostasis/metabolism  renal/urinary system 

    Find genes that share phenotypes with ABCA7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Abca7tm1Frm for ABCA7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCA7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCA7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCA7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCA7

    miRNA
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    miRTarBase miRNAs that target ABCA7:
    hsa-mir-335-5p (MIRT017401)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ABCA7

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ABCA7 (NM_019112)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCA7

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA7


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCA7_HUMAN, Q8IZY2: Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane
    protein. Endosome membrane; Multi-pass membrane protein. Note=Localizes to cell membrane ruffles and phagocytic
    cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages,
    probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney.
    Isoform 2 may localize to the endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus5
    plasma membrane5
    cytosol3
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with ABCA7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCA7 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABCA transporters in lipid homeostasis0.00
    ABC transporters0.69
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Cholesterol and Sphingolipids transport Recycling to plasma membrane in lung normal and CF
    Cholesterol and Sphingolipids transport Recycling to plasma membrane in lung normal and CF


    Find genes that share SuperPaths with ABCA7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ABCA7
        Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

    1 Reactome Pathway for ABCA7
        ABCA transporters in lipid homeostasis


    1 Kegg Pathway  (Kegg details for ABCA7):
        ABC transporters

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABCA7
    Interactions:

        GeneGlobe Interaction Network for ABCA7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for ABCA7 (ENSP000002630944) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOA1ENSP000002368504STRING: ENSP00000236850
    ABCA2ENSP000003441554STRING: ENSP00000344155
    ABCB6ENSP000002653164STRING: ENSP00000265316
    ABCB8ENSP000003517174STRING: ENSP00000351717
    ABCD4ENSP000003493964STRING: ENSP00000349396
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006909phagocytosis IEA--
    GO:0033700phospholipid efflux IEA--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with ABCA7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCA7

    Selected HMDB Compounds for ABCA7 (see all 110)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    4 Novoseek inferred chemical compound relationships for ABCA7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 59.3 3 16788211 (2)
    cholesterol 50 15 14570867 (4), 16788211 (3), 18429932 (3), 15930518 (1) (see all 6)
    phospholipid 50 4 14570867 (2), 16788211 (1)
    lipid 36.4 6 16788211 (1), 10873640 (1), 17973979 (1), 14570867 (1) (see all 5)



    Find genes that share compounds with ABCA7           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABCA7 gene (2 alternative transcripts): 
    NM_019112.3  NM_033308.1  

    Unigene Cluster for ABCA7:

    ATP-binding cassette, sub-family A (ABC1), member 7
    Hs.134514  [show with all ESTs]
    Unigene Representative Sequence: NM_019112
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263094(uc002lqw.4) ENST00000530703 ENST00000524850 ENST00000526885(uc010dsa.3)
    ENST00000525238 ENST00000531467 ENST00000527496 ENST00000435683(uc010dsb.1)
    ENST00000533574 ENST00000530092 ENST00000525073 ENST00000529442 ENST00000532194
    ENST00000525939 ENST00000531478 ENST00000524383 ENST00000433129(uc002lqy.3 uc010dsc.3)

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    Additional mRNA sequence: 

    AB055390.1 AF140342.1 AF250238.1 AF328787.1 AK097344.1 AK301108.1 AK310127.1 AK310909.1 
    AL137481.1 

    12 DOTS entries:

    DT.100773838  DT.87046747  DT.100026519  DT.100773843  DT.202026  DT.408328  DT.121417280  DT.97815725 
    DT.121417268  DT.121417290  DT.121417293  DT.95242964 

    Selected AceView cDNA sequences (see all 99):

    BQ959013 BQ955522 BU528031 AF140342 AK097344 AF328787 BU734175 BU675136 
    CD629700 CD629714 BE793677 BG775975 AI668632 CD629708 BQ639376 CD629705 
    AI668630 AA703073 BQ637657 AW503735 BQ010995 CD629715 BQ639122 T87800 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABCA7 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
    SP1:                                                                                                        -                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35a · 35b · 35c ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                -                           
    SP3:                                                                                                                                                            
    SP4:                                                              -                                                                                             
    SP5:                                                              -                                                                                             

    ExUns: 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45a · 45b · 45c ^ 46 ^ 47 ^ 48
    SP1:                                      -     -                     
    SP2:                                      -     -                     
    SP3:                                            -                     
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for ABCA7

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABCA7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGCCGCCT
    ABCA7 Expression
    About this image


    ABCA7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    ABCA7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCA7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134514

    UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2
    Tissue specificity: Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in
    myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more
    abundant in lymph node, spleen, thymus and trachea than isoform 1 which is more strongly expressed in brain and
    bone marrow

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ABCA7 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abca71 , 5 ATP-binding cassette, sub-family A (ABC1), member 71, 5 78.02(n)1
    78.79(a)1
      10 (39.72 cM)5
    274031  NM_013850.11  NP_038878.11 
     799964945 
    chicken
    (Gallus gallus)
    Aves ABCA76
    ATP-binding cassette, sub-family A (ABC1), member ...
    55(a)
    1 ↔ 1
    28(2822969-2834381)
    lizard
    (Anolis carolinensis)
    Reptilia ABCA76
    ATP-binding cassette, sub-family A (ABC1), member ...
    64(a)
    1 ↔ 1
    GL344325.1(284-16709)
    zebrafish
    (Danio rerio)
    Actinopterygii ABCA7 (2 of 3)6
    ABCA7 (1 of 3)6
    (see all 3)
    ATP-binding cassette, sub-family A (ABC1), member ...
    ATP-binding cassette, sub-family A (ABC1), member ...
    (see all 3)
    62(a)
    48(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    7(76211205-76218609) ENSDARG00000090648
    11(5672360-5745429) ENSDARG00000074221


    ENSEMBL Gene Tree for ABCA7 (if available)
    TreeFam Gene Tree for ABCA7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCA7 gene
    ABCA12  ABCA102  ABCA132  ABCA32  ABCA82  ABCA122  ABCA42  ABCA22  
    ABCA92  ABCA62  ABCA52  
    11 SIMAP similar genes for ABCA7 using alignment to 7 protein entries:     ABCA7_HUMAN (see all proteins):
    DKFZp434E1030    ABC1    ABC2    ABCA1    DKFZp547P193    DKFZp781N1972
    ABCA4    ABCA12    ABCA2    ABCG2    ABCA13

    Find genes that share paralogs with ABCA7           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCA7 (see all 1190)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932501221,2
    --1039619(+) GGCCCC/TCTCCC 1 -- us2k10--------
    rs739205501,2
    C,F--1039625(+) CTCCCC/TCTCCT 1 -- us2k12Minor allele frequency- T:0.12WA 120
    rs37950661,2
    C,F,A,H--1039626(+) TCCCCT/CTCCTG 1 -- us2k1 trp37Minor allele frequency- C:0.25NA CSA WA EA 367
    rs1137803211,2
    C--1039627(+) CCCCCC/TCCTGC 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs37950671,2
    C,F,H--1039628(+) CCCCTT/CCTGCC 1 -- us2k1 trp38Minor allele frequency- C:0.16NA CSA WA EA 368
    rs1505284851,2
    --1039749(+) TAGAGA/GGAGCC 1 -- us2k10--------
    rs2000913271,2
    C--1039765(+) AGCCC-/CGG   
      GGACAG
    CGGGG
    1 -- us2k10--------
    rs1845107731,2
    --1039843(+) AGGCAA/GCCTGG 1 -- us2k10--------
    rs1393658781,2
    --1039878(+) TTCCCA/GGAGGG 1 -- us2k10--------
    rs1496036371,2
    C--1039923(+) CCTACA/GGTGAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABCA7 (1040102 - 1065571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCA7 (see all 35):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1435034CNV Deletion17803354
    esv2717823CNV Deletion23290073
    esv2657477CNV Deletion23128226
    esv2717825CNV Deletion23290073
    esv2717824CNV Deletion23290073
    esv1005530CNV Insertion20482838
    dgv3579n71CNV Loss21882294
    nsv910384CNV Loss21882294
    dgv3575n71CNV Loss21882294
    dgv3577n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ABCA7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCA7
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA7

    (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.)
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    OMIM gene information: 605414    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for ABCA7:
    Asperger syndrome     Tangier disease

    Find genes that share disorders with ABCA7           About GenesLikeMe

    Genetic Association Database (GAD): ABCA7
    Human Genome Epidemiology (HuGE) Navigator: ABCA7 (12 documents)

    Export disorders for ABCA7 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)
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    PubMed articles for ABCA7 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with ABCA7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7). (PubMed id 10873640)1, 2, 9 Kaminski W.E....Schmitz G. (Biochem. Biophys. Res. Commun. 2000)
    2. Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein. (PubMed id 14570867)1, 2, 9 Abe-Dohmae S....Yokoyama S. (J. Biol. Chem. 2004)
    3. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. (PubMed id 21460840)1, 4 Hollingworth P....Williams J. (Nat. Genet. 2011)
    4. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (PubMed id 21460841)1, 4 Naj A.C....Schellenberg G.D. (Nat. Genet. 2011)
    5. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. (PubMed id 20855565)1, 4 Peloso G.M....Brousseau M.E. (J. Lipid Res. 2010)
    6. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Apoptotic engulfment pathway and schizophrenia. (PubMed id 19721717)1, 4 Chen X....Kendler K.S. (PLoS ONE 2009)
    9. 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. (J. Hum. Genet. 2009)
    10. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10347 HGNC: 37 AceView: ABCA7 Ensembl:ENSG00000064687 euGenes: HUgn10347
    ECgene: ABCA7 Kegg: 10347 H-InvDB: ABCA7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCA7 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8IZY2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCA7 gene:
    Search GeneIP for patents involving ABCA7

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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