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ABCA13 Gene

protein-coding   GIFtS: 55
GCID: GC07P048208

ATP-Binding Cassette, Sub-Family A (ABC1), Member 13

  Search for ABCA13
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 131 2     ATP-Binding Cassette Sub-Family A Member 13 Variant 32
ATP Binding Cassette Transporter A132     EC 2.7.11.258
ATP-Binding Cassette Sub-Family A Member 132     EC 3.6.38
ATP-Binding Cassette Sub-Family A Member 13 Variant 22     

External Ids:    HGNC: 146381   Entrez Gene: 1546642   Ensembl: ENSG000001798697   OMIM: 6078075   UniProtKB: Q86UQ43   

Export aliases for ABCA13 gene to outside databases

Previous GC identifers: GC07P048023 GC07P047982 GC07P048015


(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 ABCA13 Gene:
In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene
subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode
several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more
transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate
binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as
is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has
not been demonstrated.(provided by RefSeq, Mar 2009)

GeneCards Summary for ABCA13 Gene:
ABCA13 (ATP-binding cassette, sub-family A (ABC1), member 13) is a protein-coding gene. GO annotations related to this gene include ATPase activity. An important paralog of this gene is ABCA1.

Gene Wiki entry for ABCA13 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:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCA13 gene promoter:
         SRF   AML1a   SRF (504 AA)   LUN-1   Nkx6-1   POU2F1   POU2F1a   POU2F1b   HSF1short   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): ABCA13 promoter sequence
   Search Chromatin IP Primers for ABCA13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCA13


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

Entrez Gene cytogenetic band: 7p12.3   Ensembl cytogenetic band:  7p12.3   HGNC cytogenetic band: 7p12.3

ABCA13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA13 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P048208:  view genomic region     (about GC identifiers)

Start:
48,211,055 bp from pter      End:
48,687,092 bp from pter
Size:
476,038 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 48,250,847-48,729,205     

(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: ABCAD_HUMAN, Q86UQ4 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 13  
Size: 5058 amino acids; 576159 Da
Sequence caution: Sequence=BAC03623.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC86492.1; Type=Erroneous termination; Positions=123; Note=Translated as Glu; Sequence=BAC86492.1;
Type=Frameshift; Positions=156;
Secondary accessions: Q6ZTT7 Q86WI2 Q8N248
Alternative splicing: 3 isoforms:  Q86UQ4-1   Q86UQ4-2   Q86UQ4-3   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ABCA13: NX_Q86UQ4

Explore proteomics data for ABCA13 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ABCA13 (Q86UQ4)
     NGAGKST  STFSSEN  NGAGKTT 


    See ABCA13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689914.3  
    ENSEMBL proteins: 
     ENSP00000409268   ENSP00000411096   ENSP00000396789   ENSP00000391042   ENSP00000389861  
     ENSP00000442634  

    ABCA13 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ABCA13

     
    Search eBioscience for Proteins for ABCA13 

    ABCA13 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for ABCA13

    ABCA13 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABCA13
    Cloud-Clone Corp. CLIAs for ABCA13
    Search eBioscience for ELISAs for ABCA13 


    (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: ABCA13
    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 Q86UQ4

    ProtoNet protein and cluster: Q86UQ4

    UniProtKB/Swiss-Prot: ABCAD_HUMAN, Q86UQ4
    Similarity: Belongs to the ABC transporter superfamily
    Similarity: Contains 2 ABC transporter domains


    Find genes that share domains with ABCA13           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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         Enzyme Numbers (IUBMB): EC 2.7.11.252 EC 3.6.32

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    Find genes that share ontologies with ABCA13           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Abca13 (no phenotypes)

    Find genes that share phenotypes with ABCA13           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Abca13tm1Lex for ABCA13

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCA13
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABCA13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCA13
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCA13

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABCA13:
    hsa-mir-148b-3p (MIRT019469)

    Block miRNA regulation of human, mouse, rat ABCA13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCA13 (see all 10):
    hsa-miR-222* hsa-miR-199b-3p hsa-miR-4272 hsa-miR-199a-3p hsa-miR-3065-5p hsa-miR-3129-5p hsa-miR-421 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidABCA13 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCA13
    Predesigned siRNA for gene silencing in human, mouse, rat ABCA13

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ABCA13

    Clone
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    OriGene clones in human, mouse for ABCA13 (see all 3)
    OriGene ORF clones in mouse, rat for ABCA13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCA13 (NM_152701)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCA13
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA13

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ABCA13
    Browse ESI BIO Cell Lines and PureStem Progenitors for ABCA13 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA13


    (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
    ABCAD_HUMAN, Q86UQ4: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    golgi apparatus1
    lysosome1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ABCA13           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 ABCA13 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC transporters0.69


    Find genes that share SuperPaths with ABCA13           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for ABCA13):
        ABC transporters

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA13: 
              Drug Transporters in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ABCA13

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for ABCA13 (Q86UQ43 ENSP000004110964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACDQ96AP03I2D: score=1 
    GABARAPO951663I2D: score=1 
    APOA1ENSP000002368504STRING: ENSP00000236850
    APOA2ENSP000003569694STRING: ENSP00000356969
    ABCG2ENSP000002376124STRING: ENSP00000237612
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--

    Find genes that share ontologies with ABCA13           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 ABCA13 (ABCAD)



    (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 ABCA13 gene: 
    NM_152701.4  

    Unigene Cluster for ABCA13:

    ATP-binding cassette, sub-family A (ABC1), member 13
    Hs.226568  [show with all ESTs]
    Unigene Representative Sequence: AY204751
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417403(uc003top.2) ENST00000435803(uc010kyr.2 uc003toq.2 uc010kys.1 uc010kyu.1)
    ENST00000484268(uc003tos.1) ENST00000453246(uc010kyt.1) ENST00000411975
    ENST00000435451 ENST00000544596
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ABCA13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCA13 (see all 10):
    hsa-miR-222* hsa-miR-199b-3p hsa-miR-4272 hsa-miR-199a-3p hsa-miR-3065-5p hsa-miR-3129-5p hsa-miR-421 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidABCA13 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ABCA13
    Predesigned siRNA for gene silencing in human, mouse, rat ABCA13
    Clone
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    OriGene clones in human, mouse for ABCA13 (see all 3)
    OriGene ORF clones in mouse, rat for ABCA13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABCA13 (NM_152701)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCA13
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA13
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ABCA13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCA13
      QuantiTect SYBR Green Assays in human, mouse, rat ABCA13
      QuantiFast Probe-based Assays in human, mouse, rat ABCA13

    Additional mRNA sequence: 

    AF501281.1 AK091195.1 AK091270.1 AK126220.1 AK128516.1 AK128570.1 AK131360.1 AY204751.1 
    BC062666.1 BX647273.1 BX647560.1 JF913488.1 JF913489.1 JF913491.1 JF913492.1 

    6 DOTS entries:

    DT.95268715  DT.101980180  DT.95112898  DT.101963293  DT.100008078  DT.101971841 

    Selected AceView cDNA sequences (see all 37):

    BX644621 NM_152701 AW468640 BC062666 CD637938 AF501281 AK128570 CD637949 
    AI732440 BG564949 AY204751 AK091270 AK131360 AX746886 BF904115 CD637947 
    CD637941 CD637945 CD637940 AK128516 CD637955 BI026273 CD637952 CD637943 

    GeneLoc Exon Structure


    (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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    ABCA13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTTACTT
    ABCA13 Expression
    About this image


    ABCA13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    ABCA13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCA13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.226568

    UniProtKB/Swiss-Prot: ABCAD_HUMAN, Q86UQ4
    Tissue specificity: Expressed in testis, bone marrow and trachea

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA13: 
              Drug Transporters in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ABCA13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCA13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA13

    (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 animals.

    Orthologs for ABCA13 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abca131 , 5 ATP-binding cassette, sub-family A (ABC1), member 131, 5 76.24(n)1
    66.29(a)1
      11 (6.13 cM)5
    2683791  NM_178259.31  NP_839990.21 
     91919425 
    zebrafish
    (Danio rerio)
    Actinopterygii abch16
    ATP-binding cassette, sub-family H, member 1
    18(a)
    many ↔ many
    17(24365342-24392834) ENSDARG00000071341
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341206
    --
    22(a)
    1 ↔ 1
    X(20994980-21011281)
    worm
    (Caenorhabditis elegans)
    Secernentea abt-26
    Protein ABT-2 (abt-2) mRNA, complete cds
    24(a)
    1 ↔ 1
    I(2255923-2272866) WBGene00000020


    ENSEMBL Gene Tree for ABCA13 (if available)
    TreeFam Gene Tree for ABCA13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCA13 gene
    ABCA12  ABCA102  ABCA32  ABCA82  ABCA122  ABCA42  ABCA72  ABCA22  
    ABCA92  ABCA62  ABCA52  
    17 SIMAP similar genes for ABCA13 using alignment to 11 protein entries:     ABCAD_HUMAN (see all proteins):
    ABC2    ABCA5    ABCA9    DKFZp547P193    DKFZp434E1030    ABCA2
    ABCA4    ABCA12    ABCA10    DKFZp686K07118    ABC1    ABCA7
    ABCA1    DKFZp781N1972    ABCA3    ABCA3 variant protein    ABCG2

    Find genes that share paralogs with ABCA13           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 ABCA13 (see all 9908)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1872261391,2
    --48185744(+) GAATAC/TGTGTG 1 -- us2k10--------
    rs1441019591,2
    --48185757(+) AATGGA/TTATAA 1 -- us2k10--------
    rs1464984601,2
    --48185798(+) AATTGG/TATCAG 1 -- us2k10--------
    rs1409007421,2
    --48185806(+) CAGGCC/TAAATT 1 -- us2k10--------
    rs1433056941,2
    --48185831(+) CACTAA/TGCAGT 1 -- us2k10--------
    rs1454427201,2
    --48185871(+) AGTTAA/GGAAGG 1 -- us2k10--------
    rs1921023381,2
    --48185898(+) TGTTTC/TCTTGG 1 -- us2k10--------
    rs741931531,2
    C,F--48185912(-) GTTCCG/ATGTTT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1830396801,2
    --48186009(+) GCCCTC/TCCTAG 1 -- us2k10--------
    rs1869651631,2
    --48186013(+) TCCCTA/GGTGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABCA13 (48211055 - 48461055 bp, first 250kb of ABCA13)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCA13 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734370CNV Deletion23290073
    esv2672976CNV Deletion23128226
    esv2314060CNV Deletion18987734
    esv2659311CNV Deletion23128226
    esv2600887CNV Deletion19546169
    esv2662109CNV Deletion23128226
    esv2671369CNV Deletion23128226
    esv2421774CNV Deletion20811451
    esv1790237CNV Insertion17803354
    nsv514416CNV Loss21397061

    Human Gene Mutation Database (HGMD): ABCA13
    Locus Specific Mutation Databases (LSDB): ABCA13

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCA13
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA13

    (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: 607807    OMIM disorders: --


    Find genes that share disorders with ABCA13           About GenesLikeMe

    Genetic Association Database (GAD): ABCA13
    Human Genome Epidemiology (HuGE) Navigator: ABCA13 (3 documents)

    Export disorders for ABCA13 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 ABCA13 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with ABCA13)
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    1. The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. (PubMed id 12697998)1, 2, 3 Prades C.... Dean M. (Cytogenet. Genome Res. 2002)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. (PubMed id 19944402)1, 4 Knight H.M....Blackwood D.H. (Am. J. Hum. Genet. 2009)
    4. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder. (PubMed id 23250005)1 Degenhardt F....Cichon S. (Psychiatr. Genet. 2013)
    7. Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13. (PubMed id 23266639)1 Maess M.B.... Lorkowski S. (Gene 2013)
    8. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    9. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)4 Lunetta K.L....Murabito J.M. (BMC Med. Genet. 2007)
    10. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 154664 HGNC: 14638 AceView: ABCA13 Ensembl:ENSG00000179869 euGenes: HUgn154664
    ECgene: ABCA13 Kegg: 154664 H-InvDB: ABCA13

    (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 ABCA13 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q86UQ4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCA13 gene:
    Search GeneIP for patents involving ABCA13

    GeneCards and IP:
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