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

ABCA2 Gene

protein-coding   GIFtS: 61
GCID: GC09M139901

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


(Previous symbol: ABC2)
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(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 21 2     ATP-Binding Cassette, Sub-Family A, Member 22
ABC21 2 3 5     KIAA10623
ATP-Binding Cassette 22 3     EC 3.6.38
ATP-Binding Cassette Transporter 22 3     EC 3.6.3.418
ATP-Binding Cassette Sub-Family A Member 22     

External Ids:    HGNC: 321   Entrez Gene: 202   Ensembl: ENSG000001073317   OMIM: 6000475   UniProtKB: Q9BZC73   

Export aliases for ABCA2 gene to outside databases

Previous GC identifers: GC09P131061 GC09M131591 GC09M133342 GC09M135258 GC09M137177 GC09M139021 GC09M109360


(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 ABCA2 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. This protein is highly expressed in brain tissue and may play a role in macrophage
lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCA2 Gene: 
ABCA2 (ATP-binding cassette, sub-family A (ABC1), member 2) is a protein-coding gene. Diseases associated with ABCA2 include developmental coordination disorder, and neuroma, 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 nucleotide binding. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7
Function: Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid
metabolism and neural development

Gene Wiki entry for ABCA2 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_000009.11  NC_018920.2  NT_024000.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCA2 gene promoter:
         GATA-3   NRSF form 1   NRSF form 2   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ABCA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA2


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34

ABCA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M139901:  view genomic region     (about GC identifiers)

Start:
139,901,686 bp from pter      End:
139,923,374 bp from pter
Size:
21,689 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: ABCA2_HUMAN, Q9BZC7 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 2  
Size: 2435 amino acids; 269873 Da
Subcellular location: Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane
protein. Note=Forms discrete, punctate intracellular vesicles
Secondary accessions: A6NED5 Q5SPY5 Q5W9G5 Q76MW7 Q9HC28
Alternative splicing: 3 isoforms:  Q9BZC7-1   Q9BZC7-2   Q9BZC7-3   (Ref.1 (AAK14334/AAK14335) and Ref.2 (AAG09372) sequences are in conflict in position: 55:S->P)

Explore the universe of human proteins at neXtProt for ABCA2: NX_Q9BZC7

Explore proteomics data for ABCA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZC7

  • 3 DME Specific Peptides for ABCA2 (Q9BZC7)
     LDEPTAG  LDEPTTG  NGAGKTT 

    ABCA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCA2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001597.2  NP_997698.1  

    ENSEMBL proteins: 
     ENSP00000344155   ENSP00000420084   ENSP00000420527   ENSP00000418662   ENSP00000420360  
     ENSP00000406741   ENSP00000419850   ENSP00000420289   ENSP00000417701   ENSP00000265662  
     ENSP00000360666  
    Reactome Protein details: Q9BZC7
    Human Recombinant Protein Products for ABCA2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCA2 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA11309290
    GO:0005765lysosomal membrane RCA11309290
    GO:0005768endosome IDA11309290
    GO:0005815microtubule organizing center ISS--
    GO:0010008endosome membrane IEA--

    ABCA2 for ontologies           About GeneDecksing



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    (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: ABCA2 
    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 Q9BZC7

    ProtoNet protein and cluster: Q9BZC7

    UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7
    Similarity: Belongs to the ABC transporter superfamily. ABCA family
    Similarity: Contains 2 ABC transporter domains


    ABCA2 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: ABCA2_HUMAN, Q9BZC7
    Function: Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid
    metabolism and neural development

         Genatlas biochemistry entry for ABCA2:
    ATP binding cassette superfamily,subfamily A,member 2,mouse ABC2 homolog,widely expressed

         Enzyme Numbers (IUBMB): EC 3.6.3.412 EC 3.6.32

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding RCA12363033
    GO:0005524ATP binding ISS--
    GO:0016887ATPase activity IDA15999530
    GO:0017111nucleoside-triphosphatase activity ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances NAS7766993
         
    ABCA2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abca2):
     behavior/neurological  growth/size  homeostasis/metabolism  mortality/aging  nervous system 
     reproductive system 

    ABCA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ABCA2: Abca2tm1Nina Abca2tm1Kdt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABCA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCA2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCA2 

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    SwitchGear 3'UTR luciferase reporter plasmidABCA2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    (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 ABCA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.70
    ABCA transporters in lipid homeostasis0.47
    ABC transporters0.70
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ABCA2
        ABC-family proteins mediated transport
    ABCA transporters in lipid homeostasis
    Transmembrane transport of small molecules


    2         Kegg Pathways  (Kegg details for ABCA2):
        ABC transporters
    Lysosome


    ABCA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for ABCA2 (Q9BZC73 ENSP000003441554) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK5RAP2Q96SN83, ENSP000003438184I2D: score=2 STRING: ENSP00000343818
    CACNA1AO005553I2D: score=1 
    ABCB6ENSP000002653164STRING: ENSP00000265316
    ABCD4ENSP000003493964STRING: ENSP00000349396
    ABCA7ENSP000002630944STRING: ENSP00000263094
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA15999530
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA15238223
    GO:0006629lipid metabolic process NAS11178988
    GO:0006810transport NAS11178988
    GO:0032383regulation of intracellular cholesterol transport IMP15238223

    ABCA2 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

    ABCA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCA2

    9 Novoseek inferred chemical compound relationships for ABCA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    abc2 98 22 10970803 (7), 9537224 (5), 11270397 (2), 11804192 (1) (see all 6)
    estramustine 86.6 9 9537224 (5), 15150577 (1), 17029687 (1), 17266523 (1)
    8-azido-atp 80.2 1 10970803 (1)
    aaph 67.2 3 17029687 (1), 17266523 (1)
    mitoxantrone 66.8 5 15150577 (2), 17029687 (1), 17266523 (1)
    atp 34.9 5 15238223 (2), 12560508 (1), 15999530 (1), 10970803 (1)
    cholesterol 28.5 8 17029687 (3), 15238223 (2), 17266523 (2)
    estradiol 22.4 2 17029687 (1), 17266523 (1)
    lipid 0 1 16752360 (1)

    Search CenterWatch for drugs/clinical trials and news about ABCA2

    (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 ABCA2 gene (2 alternative transcripts): 
    NM_001606.4  NM_212533.2  

    Unigene Cluster for ABCA2:

    ATP-binding cassette, sub-family A (ABC1), member 2
    Hs.421202  [show with all ESTs]
    Unigene Representative Sequence: NM_001606
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000341511(uc004ckn.1) ENST00000479446 ENST00000459850(uc004ckm.1)
    ENST00000487109 ENST00000464520 ENST00000490486 ENST00000448336 ENST00000464157(uc022bqa.1)
    ENST00000463603 ENST00000437791 ENST00000431584 ENST00000488535 ENST00000466707
    ENST00000492260(uc004cko.1) ENST00000470535 ENST00000467624 ENST00000464876(uc010nca.3)
    ENST00000494046

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    Additional mRNA sequence: 

    AB028985.2 AB177854.1 AF178941.1 AF327657.1 AK295489.1 AK308738.1 AL162060.1 AL833967.1 
    BC008755.1 BC029282.1 BC064542.1 BC090860.1 BC109244.1 BC144588.1 BC144589.1 JF279959.1 
    JF279960.1 U18236.1 

    18 DOTS entries:

    DT.92441449  DT.100760652  DT.313167  DT.91698218  DT.95259311  DT.100036596  DT.121190633  DT.100834574 
    DT.100766847  DT.92441447  DT.97855540  DT.100732609  DT.102828477  DT.121190624  DT.121190474  DT.95244735 
    DT.95259318  DT.97782175 

    24/308 AceView cDNA sequences (see all 308):

    BI756105 BM479039 BM848734 BM709196 NM_001606 NM_212533 BF516223 CA942248 
    BF514008 CA454786 AA324817 CA454711 R45304 AL833967 BI039809 BQ962877 
    BG315241 BM849921 CB069459 BM849955 AI174196 BM820930 AB028985 BM314649 

    GeneLoc Exon Structure

    5/19 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA2 (see all 19)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                                                                            
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

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

    ExUns: 39a · 39b · 39c ^ 40a · 40b ^ 41a · 41b ^ 42a · 42b · 42c ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^ 47a · 47b ^ 48 ^ 49 ^ 50 ^ 51a · 51b · 51c
    SP1:                                                                                                                                          
    SP2:                                                                                                                                          
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for ABCA2

    (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

    ABCA2 expression in normal human tissues (normalized intensities)      ABCA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGCGGTC
    ABCA2 Expression
    About this image


    ABCA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             caudate nucleus   
     
     Eye (Sensory Organs)
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   

    See ABCA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCA2

    SOURCE GeneReport for Unigene cluster: Hs.421202

    UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7
    Tissue specificity: Highly expressed in the brain, whereas lower levels of expression is observed in kidney and
    liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including ABCA2: 
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              Drug Transporters in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ABCA2 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 Abca21 , 5 ATP-binding cassette, sub-family A (ABC1), member 21, 5 86.62(n)1
    93.46(a)1
      2 (17.25 cM)5
    113051  NM_007379.21  NP_031405.21 
     254287035 
    chicken
    (Gallus gallus)
    Aves ABCA21 ATP-binding cassette, sub-family A (ABC1), member 2 79.19(n)
    83.08(a)
      426955  XM_003642268.1  XP_003642316.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCA26
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL343888.1(119593-167099)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000060901 novel protein similar to vertebrate ATP-binding cassette more 71.63(n)
    79.02(a)
      100006090  XM_001344918.2  XP_001344954.2 


    ENSEMBL Gene Tree for ABCA2 (if available)
    TreeFam Gene Tree for ABCA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCA2 gene
    ABCG12  ABCA102  ABCA132  ABCA32  ABCG82  ABCA62  ABCA52  ABCG22  
    ABCA12  ABCA82  ABCG42  ABCA42  ABCA122  ABCA72  ABCG52  ABCA92  
    18/20 SIMAP similar genes for ABCA2 using alignment to 14 protein entries:     ABCA2_HUMAN (see all proteins) (see all similar genes):
    DKFZp547P193    ABC2    ABCA4    DKFZp434E1030    DKFZp781N1972    ABCA8
    DKFZp686F2450    ABCA9    ABCA3 variant protein    ABCA5    ABCA12    ABCA13
    ABCA10    ABCA6    ABCA7    ABCA1    ABC1    ABCA3

    ABCA2 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

    10/793 SNPs in ABCA2 are shown (see all 793)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0445264
    ----see VAR_0445262 H P mis40--------
    rs776907111,2
    F--139901220(+) TCCACC/TGCTGA 2 -- ds50011Minor allele frequency- T:0.08WA 118
    rs1807736901,2
    --139901332(+) TCTCCG/TCCTGG 2 -- ds50010--------
    rs1393421271,2
    --139901410(+) TGCAGA/GCCCCA 2 -- ds50010--------
    rs735626931,2
    C,F--139901436(+) GTGAAG/AGAGGC 2 -- ds50011Minor allele frequency- A:0.50WA 2
    rs764338321,2
    F--139901491(+) GGGCCG/AGGAGC 2 -- ds50011Minor allele frequency- A:0.08WA 118
    rs1919284861,2
    --139901534(+) ACCATA/GGTGAA 2 -- ds50010--------
    rs78579481,2
    C--139901681(+) CAGACC/TCGCAG 2 -- ds50012Minor allele frequency- T:0.00NA 4
    rs70366681,2
    C,F,A,H--139901891(+) CCCGCG/AGGACA 2 -- ut31 ese322Minor allele frequency- A:0.09NS EA NA WA CSA 2340
    rs1425380761,2
    --139901938(+) TCTTCC/TCAAAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ABCA2 (139901686 - 139923374 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/29 variations for ABCA2 (see all 29):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660583CNV Deletion23128226
    esv2422220CNV Deletion17116639
    nsv894513CNV Loss21882294
    nsv894483CNV Loss21882294
    nsv894567CNV Loss21882294
    dgv8416n71CNV Loss21882294
    dgv8439n71CNV Loss21882294
    dgv8440n71CNV Loss21882294
    dgv8428n71CNV Loss21882294
    nsv894521CNV Loss21882294


    Human Gene Mutation Database (HGMD): ABCA2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600047    OMIM disorders: --

    12 diseases for ABCA2:    About MalaCards
    developmental coordination disorder    neuroma    alzheimer's disease    macular degeneration
    dementia    systemic lupus erythematosus    lupus erythematosus    ataxia
    tuberculosis    atherosclerosis    lung cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for ABCA2:
    Developmental coordination disorder

    ABCA2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for ABCA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian carcinoma 49.8 3 9537224 (1), 17029687 (1), 17266523 (1)
    neuroma acoustic 49.7 3 15850583 (2), 17266523 (1)
    senile plaques 43.3 4 17029687 (1), 17266523 (1)
    atherosclerosis 11.1 2 17029687 (1), 17266523 (1)
    alzheimers disease 9.48 3 16752360 (2), 17029687 (1)
    cancer 0 2 17029687 (1), 17266523 (1)

    Genetic Association Database (GAD): ABCA2
    Human Genome Epidemiology (HuGE) Navigator: ABCA2 (9 documents)

    Export disorders for ABCA2 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 ABCA2 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with ABCA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human adenosine 5'-triphosphate- binding cassette, sub-family A, transporter 2 (ABCA2). (PubMed id 11309290)1, 2, 9 Vulevic B.... Tew K.D. (2001)
    2. Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease. (PubMed id 16752360)1, 4, 9 Wollmer M.A....Papassotiropoulos A. (2006)
    3. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. 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)
    6. No association of DAPK1 and ABCA2 SNPs on chromosome 9 with Alzheimer's disease. (PubMed id 18336955)1, 4 Minster R.L....Kamboh M.I. (2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages. (PubMed id 11178988)1, 2 Kaminski W.E.... Schmitz G. (2001)
    9. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    10. Cloning of two novel ABC transporters mapping on human chromosome 9. (PubMed id 8088782)1, 3 Luciani M.F....Chimini G. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 20 HGNC: 32 AceView: ABCA2 Ensembl:ENSG00000107331 euGenes: HUgn20
    ECgene: ABCA2 Kegg: 20 H-InvDB: ABCA2

    (According to HUGE)
    About This Section
    HUGE: KIAA1062

    (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 ABCA2 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9BZC7

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCA2 gene:
    Search GeneIP for patents involving ABCA2

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



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    About This Section

     
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