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ABCA3 Gene

protein-coding   GIFtS: 66
GCID: GC16M002330

ATP-Binding Cassette, Sub-Family A (ABC1), Member 3


(Previous symbol: ABC3)
  See ABCA3-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)
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Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 31 2     LBM1802
ABC31 2 3 5     ABC Transporter 32
ABC-C Transporter2 3     ATP-Binding Cassette Sub-Family A Member 32
ATP-Binding Cassette Transporter 32 3     ATP-Binding Cassette 33
SMDP32 5     EC 3.6.38
ABC-C2     EC 3.6.3.178
EST1116532     

External Ids:    HGNC: 331   Entrez Gene: 212   Ensembl: ENSG000001679727   OMIM: 6016155   UniProtKB: Q997583   

Export aliases for ABCA3 gene to outside databases

Previous GC identifers: GC16P002406 GC16M002351 GC16M002265 GC16M002327 GC16M002251


(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 ABCA3 Gene:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC)
transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are
divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member
of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in
multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance
to xenobiotics and engulfment during programmed cell death. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCA3 Gene:
ABCA3 (ATP-binding cassette, sub-family A (ABC1), member 3) is a protein-coding gene. Diseases associated with ABCA3 include surfactant metabolism dysfunction, pulmonary, 3, and abca3-related pulmonary surfactant metabolism dysfunction. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and transporter activity. An important paralog of this gene is ABCA1.

UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758
Function: Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such
as cholesterol

Gene Wiki entry for ABCA3 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_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCA3 gene promoter:
         COUP-TF1   COUP   XBP-1   HNF-4alpha1   C/EBPalpha   GATA-6   COUP-TF   ZIC2/Zic2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCA3 promoter sequence
   Search Chromatin IP Primers for ABCA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCA3


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

ABCA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M002330:  view genomic region     (about GC identifiers)

Start:
2,325,879 bp from pter      End:
2,390,747 bp from pter
Size:
64,869 bases      Orientation:
minus 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: ABCA3_HUMAN, Q99758 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 3  
Size: 1704 amino acids; 191362 Da
Secondary accessions: B2RU09 Q54A95 Q92473

Explore the universe of human proteins at neXtProt for ABCA3: NX_Q99758

Explore proteomics data for ABCA3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1668
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ABCA3 (Q99758)
     LILDEPT  NGAGKTT 


    See ABCA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001080.2  
    ENSEMBL proteins: 
     ENSP00000301732   ENSP00000371818   ENSP00000454397  
    Reactome Protein details: Q99758

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    (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: ABCA3
    ABCA subfamily

    Selected InterPro protein domains (see all 6):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR026082 ABC_A
     IPR026969 ABCA3

    Graphical View of Domain Structure for InterPro Entry Q99758

    ProtoNet protein and cluster: Q99758

    UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758
    Domain: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring
    domain and an ATP binding cassette (ABC) domain (By similarity)
    Similarity: Belongs to the ABC transporter superfamily. ABCA family
    Similarity: Contains 2 ABC transporter domains


    Find genes that share domains with ABCA3           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: ABCA3_HUMAN, Q99758
    Function: Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such
    as cholesterol

         Genatlas biochemistry entry for ABCA3:
    ATP binding cassette superfamily,subfamily A,member 3,involved in resistance to xenobiotics,mouse ABC2 (mu ABC2)
    homolog,highly expressed in lung,brain,heart,pancreas

         Enzyme Numbers (IUBMB): EC 3.6.32 EC 3.6.3.172

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity TAS9027511
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
         
    Find genes that share ontologies with ABCA3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCA3:
     Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Abca3):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  mortality/aging  renal/urinary system 
     respiratory system 

    Find genes that share phenotypes with ABCA3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ABCA3: Abca3tm1Nina Abca3tm1Holz Abca3tm1Frm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABCA3
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    miRNA
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    hsa-mir-92b-3p (MIRT040559), hsa-mir-92a-3p (MIRT049276), hsa-mir-20a-5p (MIRT050565), hsa-mir-335-5p (MIRT016946)

    Block miRNA regulation of human, mouse, rat ABCA3 using miScript Target Protectors
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    (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
    ABCA3_HUMAN, Q99758: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    endosome1
    golgi apparatus1
    nucleus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane TAS9027511
    GO:0016021integral component of membrane IEA--
    GO:0097208alveolar lamellar body IDA11718719

    Find genes that share ontologies with ABCA3           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 ABCA3 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


    Find genes that share SuperPaths with ABCA3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ABCA3
        ABCA transporters in lipid homeostasis


    1 Kegg Pathway  (Kegg details for ABCA3):
        ABC transporters

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA3: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ABCA3

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

    Selected Interacting proteins for ABCA3 (Q997582, 3 ENSP000003017324) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAMP3Q9UQV42, 3, ENSP000002655984MINT-7996593 MINT-7996607 MINT-7996380 I2D: score=1 STRING: ENSP00000265598
    CANXP278242, 3, ENSP000002474614MINT-7996633 I2D: score=1 STRING: ENSP00000247461
    CRATP431553I2D: score=5 
    H2AFZP0C0S53I2D: score=1 
    PRMT1Q998733I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IDA15531465
    GO:0042493response to drug TAS8706931
    GO:0051384response to glucocorticoid IEA--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with ABCA3           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 ABCA3

    1 DrugBank Compound for ABCA3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ImatinibCGP-57148B (see all 4)152459-95-5transportersubstrate19880777

    2 Novoseek inferred chemical compound relationships for ABCA3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 28.2 1 15465012 (1)
    lipid 0 1 16847209 (1)



    Find genes that share compounds with ABCA3           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 ABCA3 gene: 
    NM_001089.2  

    Unigene Cluster for ABCA3:

    ATP-binding cassette, sub-family A (ABC1), member 3
    Hs.26630  [show with all ESTs]
    Unigene Representative Sequence: NM_001089
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301732(uc002cpy.1) ENST00000382381(uc010bsk.1) ENST00000566200
    ENST00000569062 ENST00000563623(uc010bsl.1) ENST00000567910(uc002cpz.1)

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      QuantiFast Probe-based Assays in human, mouse, rat ABCA3

    Additional mRNA sequence: 

    AB070929.1 AB210044.1 AK310864.1 BC020724.1 BC035752.1 BC062779.1 BC140895.1 BC146866.1 
    BC151840.1 U66675.1 U78735.1 X97187.1 

    10 DOTS entries:

    DT.415038  DT.97822342  DT.97797548  DT.120688009  DT.95163281  DT.97846373  DT.91743399  DT.95163280 
    DT.95108671  DT.95163277 

    Selected AceView cDNA sequences (see all 35):

    X97187 BE251915 AB070929 U78735 BE669421 AA351351 BE669619 BC035752 
    NM_001089 BC062779 BC020724 AW450470 BM990801 BX372615 BX101771 BQ328862 
    BE671452 BF090334 BU856049 BF091460 AW295642 BF923714 AW900187 CD610551 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                            -                                                                                                               
    SP2:                                            -                       -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
    SP1:  -                                                         
    SP2:  -                                                         
    SP3:                                                            
    SP4:                                                            


    ECgene alternative splicing isoforms for ABCA3

    (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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    ABCA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCAAAAAA
    ABCA3 Expression
    About this image


    ABCA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Alveolar Epithelial Type 2 Cells Alveoli
             Alveolar type II cells
     
     Epithelial Cells
             Alveolar Epithelial Type 2 Cells Alveoli
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
    ABCA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26630

    UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758
    Tissue specificity: Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly
    expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell
    carcinoma

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA3: 
              Drug Transporters in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA3

    (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 ABCA3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abca31 , 5 ATP-binding cassette, sub-family A (ABC1), member 31, 5 84.49(n)1
    88.09(a)1
      17 (12.38 cM)5
    274101  NM_001039581.21  NP_001034670.11 
     243519505 
    chicken
    (Gallus gallus)
    Aves ABCA31 ATP-binding cassette, sub-family A (ABC1), member 3 73.4(n)
    68.82(a)
      416386  XM_004945436.1  XP_004945493.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    79(a)
    65(a)
    1 ↔ many
    1 ↔ many
    AAWZ02037295(1902-9087)
    AAWZ02035993(2264-26696)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.51932 Xenopus laevis transcribed sequence with weak similarity more 78.57(n)    BX843529.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abca3b1 ATP-binding cassette, sub-family A (ABC1), member 3b 66.89(n)
    65.03(a)
      564344  XM_002661098.3  XP_002661144.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17181 , 3 ATP-binding cassette (ABC) transporter3
    CG17181
    37(a)
    (best of 7)3
    51.08(n)1
    40.85(a)1
      19F33
    331031  NM_001272835.11  NP_001259764.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ced-73
    abt-41
    ABC transporters3
    abt-41
    26(a)3
    48.17(n)1
    37.26(a)1
      III(9642403-9650835)3
    1785591  NM_070774.31  NP_503175.11 


    ENSEMBL Gene Tree for ABCA3 (if available)
    TreeFam Gene Tree for ABCA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCA3 gene
    ABCA12  ABCA102  ABCA132  ABCA82  ABCA122  ABCA42  ABCA72  ABCA22  
    ABCA92  ABCA62  ABCA52  
    12 SIMAP similar genes for ABCA3 using alignment to 4 protein entries:     ABCA3_HUMAN (see all proteins):
    ABCA3 variant protein    DKFZp547P193    ABC2    DKFZp686K07118    DKFZp434E1030    ABCG2
    ABC-transporter    ABCA2    ABCA12    ABCA1    ABCA13    ABCA4

    Find genes that share paralogs with ABCA3           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for ABCA3
    PGOHUM00000250669 PGOHUM00000262317 PGOHUM00000249013


    (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 ABCA3 (see all 1839)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366911,2,,4
    CPulmonary surfactant metabolism dysfunction 3 (SMDP3)4 pathogenic12263352(-) GGGGCA/CGTTCA 2 Q P mis10--------
    VAR_0234984
    Pulmonary surfactant metabolism dysfunction 3 (SMDP3)4--see VAR_0234982 N D mis40--------
    rs289364121,2,4
    Pulmonary surfactant metabolism dysfunction 3 (SMDP3)4--see VAR_0234972 mis40--------
    VAR_0234994
    Pulmonary surfactant metabolism dysfunction 3 (SMDP3)4--see VAR_0234992 L P mis40--------
    VAR_0357284
    A breast cancer sample4--see VAR_0357282 L M mis40--------
    VAR_0357294
    A breast cancer sample4--see VAR_0357292 E D mis40--------
    VAR_0357304
    A breast cancer sample4--see VAR_0357302 H Q mis40--------
    rs1476880251,2
    C--2260735(+) GGTGGC/TGCGTG 1 -- ds50010--------
    rs1491575161,2
    --2260811(+) GCAGTG/TAGCCA 1 -- ds50010--------
    rs1435602331,2
    --2260816(+) GAGCCA/GAGATT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ABCA3 (2325879 - 2390747 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCA3 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4221CNV Deletion18987735
    esv2750383CNV Deletion23290073
    esv2675164CNV Deletion23128226
    esv2750379CNV Deletion23290073
    esv2750382CNV Deletion23290073
    esv2750381CNV Deletion23290073
    esv2750380CNV Deletion23290073
    esv2422427CNV Duplication17116639
    dgv2545n71CNV Loss21882294
    dgv2546n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ABCA3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCA3
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601615   
    OMIM disorders: 610921  
    UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758
  • Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]: A rare lung disorder due to impaired
    surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive
    using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components.
    Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 5 diseases for ABCA3:    
    About MalaCards
    surfactant metabolism dysfunction, pulmonary, 3    abca3-related pulmonary surfactant metabolism dysfunction    surfactant dysfunction    pulmonary surfactant metabolism dysfunction
    surfactant metabolism dysfunction, pulmonary, 1

    3 diseases from the University of Copenhagen DISEASES database for ABCA3:
    Respiratory failure     Interstitial lung disease     Tangier disease

    Find genes that share disorders with ABCA3           About GenesLikeMe

    1 Novoseek inferred disease relationship for ABCA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lung diseases 35.2 3 16982851 (1), 15985750 (1), 17127271 (1)

    Genetic Association Database (GAD): ABCA3
    Human Genome Epidemiology (HuGE) Navigator: ABCA3 (6 documents)

    Export disorders for ABCA3 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 ABCA3 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with ABCA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. (PubMed id 8706931)1, 2, 3, 9 Klugbauer N. and Hofmann F. (FEBS Lett. 1996)
    2. ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PubMed id 15044640)1, 2, 4 Shulenin S.... Dean M. (N. Engl. J. Med. 2004)
    3. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. (PubMed id 11718719)1, 2, 9 Yamano G.... Inagaki N. (FEBS Lett. 2001)
    4. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. (PubMed id 18317237)1, 4, 9 Garmany T.H....Hamvas A. (Pediatr. Res. 2008)
    5. The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. (PubMed id 9027511)1, 2, 9 Connors T.D....Burn T.C. (Genomics 1997)
    6. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. (PubMed id 20656946)1, 4 van Moorsel C.H....Grutters J.C. (Am. J. Respir. Crit. Care Med. 2010)
    7. 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)
    8. Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. (PubMed id 18246475)1, 4 Karjalainen M.K....Hallman M. (Ann. Med. 2008)
    9. ABCA3 mutations associated with pediatric interstitial lung disease. (PubMed id 15976379)1, 4 Bullard J.E....Nogee L.M. (Am. J. Respir. Crit. Care Med. 2005)
    10. Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. (PubMed id 15465012)1, 9 Nagata K....Ueda K. (Biochem. Biophys. Res. Commun. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 21 HGNC: 33 AceView: ABCA3 Ensembl:ENSG00000167972 euGenes: HUgn21
    ECgene: ABCA3 Kegg: 21 H-InvDB: ABCA3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ABCA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCA3[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/abca3/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q99758

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCA3 gene:
    Search GeneIP for patents involving ABCA3

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



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