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

ABCA3 Gene

protein-coding   GIFtS: 64
GCID: GC16M002330

ATP-binding cassette, sub-family A (ABC1), member 3


(Previous symbol: ABC3)
 Explore 23 diseases affiliated with
ABCA3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCA3    

Aliases
for ABCA3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 31 2     SMDP32 5
ABC31 2 3 5     ABC Transporter 32
ABC-C1 2     ATP-Binding Cassette Sub-Family A Member 32
EST1116531 2     ATP-Binding Cassette 33
LBM1801 2     EC 3.6.38
ABC-C Transporter2 3     EC 3.6.3.178
ATP-Binding Cassette Transporter 32 3     

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


Summaries
for ABCA3 gene

(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 ABCA3:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences 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 plasmid: ABCA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ABCA3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B2RU09 Q54A95 Q92473

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99758

    • 2 DME Specific Peptides for ABCA3 (Q99758)
     LILDEPT  NGAGKTT 

    ABCA3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001080.2  
    ENSEMBL proteins: 
     ENSP00000457260   ENSP00000301732   ENSP00000371818   ENSP00000454397  
    Reactome Protein details: Q99758
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    Uscn Proteins for ABCA3

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0016020membrane TAS9027511
    GO:0016021integral to membrane IEA--
    GO:0097208alveolar lamellar body IDA11718719


    ABCA3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ABCA3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCA3 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR003439 ABC_transporter-like
     IPR003593 AAA+_ATPase
     IPR026082 ABC_A
     IPR026969 ABCA3
     IPR017871 ABC_transporter_CS

    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


    Function
    for ABCA3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS9027511
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances TAS9027511


    ABCA3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for ABCA3: Abca3tm1Nina Abca3tm1Holz Abca3tm1Frm
         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 

    ABCA3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ABCA3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABCA transporters in lipid homeostasis0.47
    		ABC transporters0.70
    2SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for ABCA3
        ABC-family proteins mediated transport
    ABCA transporters in lipid homeostasis
    Transmembrane transport of small molecules


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


    ABCA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCA3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/9 Interacting proteins for ABCA3 (Q997582, 3 ENSP000003017324) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    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): 3 biological process terms (GO ID links to tree view):    About this table

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


    ABCA3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCA3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCA3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ABCA3

    1 DrugBank Compound for ABCA3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ImatinibImatinib Mesylate (see all 3)152459-95-5transportersubstrate19880777

    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ABCA3 

    Transcripts
    for ABCA3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563816 ENST00000301732(uc002cpy.1) ENST00000382381(uc010bsk.1)
    ENST00000566200 ENST00000569062 ENST00000563623(uc010bsl.1) ENST00000567910(uc002cpz.1)


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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/35 AceView cDNA sequences (see all 35):

    BC062779 BE251915 BE669619 AB070929 X97187 BC035752 U78735 AA351351 
    NM_001089 BC020724 BE669421 BX372615 BE671452 BM990801 AW450470 BQ328862 
    BX101771 BF091460 BU856049 AW295642 BF090334 CD610551 AW900257 T05334 

    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

    Expression
    for ABCA3 gene

    (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

    ABCA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCAAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ABCA3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungAlveoliAlveolar Epithelial Type 2 CellsLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    Cartilage-like cells (Differentiation of s...)Cartilage
    Alveolar type II cells (Derivation of mature...)Lung

    See ABCA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCA3

    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

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    In Situ
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    Orthologs
    for ABCA3 gene

    (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 eukaryotes.

    Orthologs for ABCA3 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ABCA31 ATP-binding cassette, sub-family A (ABC1), member 3 73.4(n)
    68.82(a)    		   416386  XM_414701.3  XP_414701.3 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 65(a)
    		 1 ↔ 1
    		 AAWZ02035993(2264-26645)
    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 abca31 ATP-binding cassette, sub-family A (ABC1), member 3 66.92(n)
    65.15(a)    		   564344  XM_002661098.2  XP_002661144.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG17181 , 3 ATP-binding cassette (ABC) transporter3
    CG17181    		 37(a)
    (best of 7)3
    50.71(n)1
    40.21(a)1    		   19F33
    331031  NM_134601.21  NP_608445.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea ced-73
    abt-41    		 ABC transporters3
    Protein ABT-41    		 26(a)3
    48(n)1
    36.9(a)1    		   III(9642403-9650835)3
    1785591  NM_070774.21  NP_503175.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ABCA16
    		 ABC transporter A family member 1
    		 27(a)
    		 1 → many
    		 2(17382890-17396110)


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

    Paralogs
    for ABCA3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCA3 gene
    ABCG12  ABCA12  ABCA102  ABCA132  ABCA82  ABCG42  ABCA122  ABCG82  
    ABCA42  ABCA72  ABCG52  ABCA22  ABCA92  ABCA62  ABCA52  ABCG22  
    15 SIMAP similar genes for ABCA3 using alignment to 5 protein entries:     ABCA3_HUMAN (see all proteins):
    ABCA3 variant protein    DKFZp547P193    ABC2    DKFZp434E1030    DKFZp686K07118    ABCA9
    ABCA4    ABCA2    ABCA5    ABC-transporter    ABCG2    ABCA12
    ABCA7    ABCA13    ABCA1

    ABCA3 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ABCA3
    PGOHUM00000250669 PGOHUM00000262317 PGOHUM00000249013


    Genomic Variants
    for ABCA3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1388 NCBI SNPs in ABCA3 are shown (see all 1388)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289366911,2
    		Cpathogenic2328017(-) GGGGCA/CGTTCA 2 Q P mis11Minor allele frequency- C:0.00NA 2
    rs1476880251,2
    		--2325400(+) GGTGGC/TGCGTG 1 -- ds50010--------
    rs1491575161,2
    		--2325476(+) GCAGTG/TAGCCA 1 -- ds50010--------
    rs1435602331,2
    		--2325481(+) GAGCCA/GAGATT 1 -- ds50010--------
    rs1914833201,2
    		--2325574(+) AAATGA/GCAAAT 1 -- ds50010--------
    rs1480236701,2
    		--2325664(+) TTAGAC/TTAAGA 1 -- ds50010--------
    rs1418122071,2
    		--2325683(+) CCGGGC/TGTTGA 1 -- ds50010--------
    rs1448724831,2
    		--2325720(+) TGGGCC/TTGTTC 1 -- ds50010--------
    rs1133145951,2
    		--2325859(+) CTCGCG/ACGTGT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs456136431,2
    		C,F,--2325860(-) CACACG/ACGCGA 1 -- ds50014Minor allele frequency- A:0.02NS CSA WA 212

    HapMap Linkage Disequilibrium report for ABCA3 (2325879 - 2390747 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ABCA3
         2 CNVs: 30002 5329
         3 Indels: 40127 61488 42160
    Human Gene Mutation Database (HGMD): ABCA3

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    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCA3
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA3

    Disorders / Diseases
    for ABCA3 gene

    (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.)
    About This Section
    ABCA3 for disorders           About GeneDecksing

    OMIM gene information: 601615   
    OMIM disorders: 610921  
    UniProtKB/Swiss-Prot: ABCA3_HUMAN, Q99758
  • Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921];
    • also called pulmonary alveolar proteinosis due to ABCA3 deficiency. 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

    20/23 diseases for ABCA3 (see all 23):    About MalaCards
    pulmonary surfactant metabolism dysfunction    congenital ichthyosiform erythroderma    pulmonary alveolar proteinosis    surfactant deficiency
    b-cell lymphomas    interstitial lung disease    tangier disease    acute myeloid leukemia
    respiratory failure    myeloid leukemia    ichthyosis    pulmonary fibrosis
    fibrosis    thyroid carcinoma    pharyngitis    thyroiditis
    leukemia    breast cancer    pneumonia    cholesterol

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

    1 Novoseek 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

    Publications
    for ABCA3 gene

    (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 ABCA3 gene, integrated from 9 sources (see all 58):
    (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. (1996)
    2. ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PubMed id 15044640)1, 2, 4 Shulenin S.... Dean M. (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. (2001)
    4. 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. (1997)
    5. ABCA3 mutations associated with pediatric interstitial lung disease. (PubMed id 15976379)1, 4 Bullard J.E....Nogee L.M. (2005)
    6. 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. (2004)
    7. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. (PubMed id 18317237)1, 9 Garmany T.H....Hamvas A. (2008)
    8. ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn. (PubMed id 19252731)1, 9 Anandarajan M....Tubman R. (2009)
    9. Respiratory syncytial virus potentiates ABCA3 mutation -induced loss of lung epithelial cell differentiation. (PubMed id 22434821)1 Kaltenborn E....Griese M. (2012)
    10. An intronic ABCA3 mutation that is responsible for res piratory disease. (PubMed id 22337229)1 Agrawal A....Nogee L.M. (2012)

    External Searches for ABCA3 gene

    (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)

    Genome Databases showing ABCA3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 21 HGNC: 33 AceView: ABCA3 Ensembl:ENSG00000167972 euGenes: HUgn21
    ECgene: ABCA3 Kegg: 21 H-InvDB: ABCA3

    Other Databases showing ABCA3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCA3 gene

    (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 ABCA3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA3
    SeattleSNPshttp://pga.gs.washington.edu/data/abca3/
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q99758

    Intellectual Property
    for ABCA3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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