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

ABCA13 Gene

protein-coding   GIFtS: 54
GCID: GC07P048208

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

Microbiology & Infectious Diseases Congress
  See related diseases
at  

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

Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 131 2
ATP Binding Cassette Transporter A132
ATP-Binding Cassette Sub-Family A Member 132
EC 2.7.11.258
EC 3.6.38

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with ABCA13 include tangier disease, and autism spectrum disorder, and among its related super-pathways are ABC-family proteins mediated transport. GO annotations related to this gene include ATPase activity and ATP binding. An important paralog of this gene is ABCG1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABCA13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: ABCAD_HUMAN, Q86UQ4 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 13  
Size: 5058 amino acids; 576159 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86UQ4

  • 3 DME Specific Peptides for ABCA13 (Q86UQ4)
     NGAGKST  STFSSEN  NGAGKTT 

    ABCA13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCA13 Protein Expression
    REFSEQ proteins: NP_689914.2  
    ENSEMBL proteins: 
     ENSP00000409268   ENSP00000411096   ENSP00000396789   ENSP00000391042   ENSP00000389861  
     ENSP00000442634  

    Human Recombinant Protein Products for ABCA13: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCA13 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    ABCA13 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for ABCA13 

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABCA13 
    Cloud-Clone Corp. CLIAs for ABCA13


    (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: 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


    ABCA13 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

         Enzyme Numbers (IUBMB): EC 2.7.11.252 EC 3.6.32

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCA13 for ontologies           About GeneDecksing


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

    ABCA13 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abca13tm1Lex for ABCA13

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCA13 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCA13
    8/10 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ABCA13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCA13

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABCA13


    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ABCA13 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: ABCA13 (NM_152701)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA13

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    Search LifeMap BioReagents cell lines for ABCA13
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA13


    (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 ABCA13 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC transporters0.70

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    ABCA13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCA13

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 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
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    ABCA13 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for ABCA13 (ABCAD)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 ABCA13 gene: 
    NM_152701.3  

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCA13
    8/10 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ABCA13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABCA13
    Clone
    Products:
         
    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
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ABCA13
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCA13
      QIAGEN 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 

    24/37 AceView cDNA sequences (see all 37):

    AW468640 NM_152701 BC062666 AF501281 CD637938 BX644621 AK128570 AX746886 
    CD637940 CD637949 AK128516 BG564949 AY204751 CD637941 BF904115 AK131360 
    CD637947 CD637945 AK091270 AI732440 CD637952 AI733755 BX647560 BI026275 

    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™, 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

    ABCA13 expression in normal human tissues (normalized intensities)      ABCA13 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
             bone marrow   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Human Vertebral Mesenchymal Stem Cells (HVMSC)   
             bone marrow   
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   
     
     Lung (Respiratory System)
             trachea   
     
     Cartilage (Muscoskeletal System)
             Human Nucleus Pulposus Cells (HNPC)   

    See ABCA13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCA13

    SOURCE GeneReport for Unigene cluster: Hs.226568

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

        SABiosciences Expression via Pathway-Focused PCR Array including ABCA13: 
              Drug Transporters in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ABCA13 gene from 2/9 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 76.19(n)1
    66.31(a)1
      11 (6.13 cM)5
    2683791  NM_178259.31  NP_839990.21 
     91919425 
    chicken
    (Gallus gallus)
    Aves ABCA136
    ATP-binding cassette, sub-family A (ABC1), member ...
    56(a)
    1 ↔ 1
    2(79980293-80095740)


    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)
    About This Section
    Paralogs for ABCA13 gene
    ABCG12  ABCA102  ABCA32  ABCG82  ABCA22  ABCA62  ABCA52  ABCG22  
    ABCA12  ABCA82  ABCG42  ABCA42  ABCA122  ABCA72  ABCG52  ABCA92  
    18 SIMAP similar genes for ABCA13 using alignment to 11 protein entries:     ABCAD_HUMAN (see all proteins):
    ABC2    ABCA8    ABCA5    ABCA9    DKFZp547P193    DKFZp434E1030
    ABCA2    ABCA12    ABCA10    ABCA4    DKFZp686K07118    ABC1
    ABCA7    ABCA1    DKFZp781N1972    ABCA3    ABCG2    ABCA3 variant protein

    ABCA13 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

    10/9908 SNPs in ABCA13 are shown (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) 10/30 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607807    OMIM disorders: --

    6 diseases for ABCA13:    About MalaCards
    tangier disease    autism spectrum disorder    bipolar disorder    pneumonia
    tuberculosis    schizophrenia


    ABCA13 for disorders           About GeneDecksing

    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 9 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. (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. (2010)
    3. A cytogenetic abnormality and rare coding variants id entify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depre ssion. (PubMed id 19944402)1, 4 Knight H.M....Blackwood D.H. (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. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. No evidence for an involvement of copy number variatio n in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder. (PubMed id 23250005)1 Degenhardt F....Cichon S. (2013)
    7. Evidence for an alternative genomic structure, mRNA and protein sequence of human ABCA13. (PubMed id 23266639)1 Maess M.B.... Lorkowski S. (2012)
    8. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (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. (2007)
    10. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (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)
    About This Section
    Entrez Gene: 154664 HGNC: 14638 AceView: ABCA13 Ensembl:ENSG00000179869 euGenes: HUgn154664
    ECgene: ABCA13 Kegg: 154664 H-InvDB: ABCA13

    (According to HUGE)
    About This Section
      --

    (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 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.)
    About This Section
    Patent Information for ABCA13 gene:
    Search GeneIP for patents involving ABCA13

    GeneCards and IP:
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