ABCA3 Gene
protein-coding GIFtS : 64
GCID: GC16 M002330
ATP-binding cassette, sub-family A (ABC1), member 3 (Previous symbol: ABC3 )
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Aliasesfor ABCA3 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases ATP-Binding Cassette, Sub-Family A (ABC1), Member 3 1 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
Export aliases for ABCA3 gene to outside databases Previous GC identifers: GC16P002406 GC16M002351 GC16M002265 GC16M002327 GC16M002251
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Summariesfor 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 ascholesterol Gene Wiki entry for ABCA3
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Genomic Viewsfor 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 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) 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
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Proteinsfor ABCA3 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 Q92473Explore the universe of human proteins at neXtProt for ABCA3: NX_Q99758 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q99758 2 DME Specific Peptides for ABCA3 (Q99758 ) ABCA3 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_001080.2 ENSEMBL proteins: ENSP00000457260 ENSP00000301732 ENSP00000371818 ENSP00000454397 Reactome Protein details: Q99758 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
ABCA3 for ontologies About GeneDecksing ABCA3 Antibody Products: Assay Products for ABCA3:
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Protein
Domains / Familiesfor 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 :
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 domainand an ATP binding cassette (ABC) domain (By similarity) Similarity : Belongs to the ABC transporter superfamily. ABCA familySimilarity : Contains 2 ABC transporter domains
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Functionfor ABCA3 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 ascholesterol
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 3.6.3 2 EC 3.6.3.17 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA3 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA3OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCA3 (NM_001089 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCA3
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA3
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
ABCA3 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for ABCA3 :Animal Models: Mouse knock-outs for ABCA3: Abca3 tm1Nina Abca3 tm1Holz Abca3 tm1Frm 6 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Abca3) :
ABCA3 for phenotypes About GeneDecksing
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Pathways & Interactionsfor 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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-pathway contained gene-specific pathways 1 ABC-family proteins mediated transport 2 SLC-mediated transmembrane transport
Pathway sources See GeneCards unified pathways Show all pathways 3
Reactome Pathways for ABCA3 1
Kegg Pathway (Kegg details for ABCA3) :
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 (Q99758 2 , 3 ENSP00000301732 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 9 )About this table Gene Ontology (GO): 3 biological process terms (GO ID links to tree view) : About this table
ABCA3 for ontologies About GeneDecksing
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Drugs & Compoundsfor 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 Tocris compounds for ABCA3 1 DrugBank Compound for ABCA3 About this table 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
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Transcriptsfor 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 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA3 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA3OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCA3 (NM_001089 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCA3
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
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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 image BioGPS CGAP TAG: TGTCAAAAAA
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 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 expressedin placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma SABiosciences Expression via Pathway-Focused PCR Array including ABCA3 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCA3Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ABCA3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCA3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCA3 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA3
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Orthologsfor ABCA3 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 33103 1 NM_134601.2 1 NP_608445.2 1
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 178559 1 NM_070774.2 1 NP_503175.1 1
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)
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Paralogsfor ABCA3 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ABCA3 gene ABCG1 2 ABCA1 2 ABCA10 2 ABCA13 2 ABCA8 2 ABCG4 2 ABCA12 2 ABCG8 2 ABCA4 2 ABCA7 2 ABCG5 2 ABCA2 2 ABCA9 2 ABCA6 2 ABCA5 2 ABCG2 2 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
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Genomic Variantsfor ABCA3 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 16 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
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 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCA3
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Disorders
/ Diseasesfor 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
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Publicationsfor ABCA3 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
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
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) ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PubMed id 15044640) 1 , 2 , 4 Shulenin S.... Dean M. (2004) 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) 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) ABCA3 mutations associated with pediatric interstitial lung disease. (PubMed id 15976379) 1 , 4 Bullard J.E....Nogee L.M. (2005) 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) Population and disease-based prevalence of the common mutations associated with surfactant deficiency. (PubMed id 18317237) 1 , 9 Garmany T.H....Hamvas A. (2008) ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn. (PubMed id 19252731) 1 , 9 Anandarajan M....Tubman R. (2009) Respiratory syncytial virus potentiates ABCA3 mutation -induced loss of lung epithelial cell differentiation. (PubMed id 22434821) 1 Kaltenborn E....Griese M. (2012) An intronic ABCA3 mutation that is responsible for res piratory disease. (PubMed id 22337229) 1 Agrawal A....Nogee L.M. (2012)
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Specialized Databases showing ABCA3 gene (According to PharmGKB ,
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PharmGKB entry for ABCA3 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA3 SeattleSNPs http://pga.gs.washington.edu/data/abca3/ ABCMdb http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q99758
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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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Productsfor ABCA3 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for ABCA3 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ABCA3 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCA3 OriGene Protein Over-expression Lysate for ABCA3 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ABCA3 OriGene 3'-UTR Clone for ABCA3 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA3 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA3 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ABCA3 OriGene Custom Protein Services for ABCA3 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCA3 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCA3 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ABCA3 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ABCA3 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCA3 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCA3
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ABCA3 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA3
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat ABCA3
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