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Aliases & Descriptions for ABCA2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ABC2 2 , 3 , 5 KIAA1062 3 MGC129761 2 OTTHUMP00000064733 2
Descriptions ATP-binding cassette 2 3 ATP-binding cassette transporter 2 3 ATP-binding cassette, sub-family A (ABC1), member 2 2 ATP-binding cassette, sub-family A, member 2 2
Search outside databases for aliases for ABCA2 genePrevious GC identifers: GC09P131061 GC09M131591 GC09M133342 GC09M135258 GC09M137177
Summaries for ABCA2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ABCA2 : The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-bindingcassette (ABC) transporters. ABC proteins transport various molecules across extra- andintracellular 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 ABC1subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.This protein is highly expressed in brain tissue and may play a role in macrophage lipidmetabolism and neural development. Two transcript variants encoding different isoforms have beenfound for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7 Function : Probable transporter, its natural substrate has not been found yet. May have a role inmacrophage lipid metabolism and neural development
Gene Wiki entry for ABCA2
Genomic Location for ABCA2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ABCA2 gene Entrez Gene cytogenetic band: 9q34 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34 ABCA2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M139021:
(about GC identifiers )
Start:
139,021,507 bp from pter
End:
139,043,195 bp from pter
Size:
21,689 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000009.10 NT_024000.16 Proteins for ABCA2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7 (See
protein sequence )Recommended Name: ATP-binding cassette sub-family A member 2 Size : 2435 amino acids; 269873 Da
Subcellular location : Membrane; Multi-pass membrane protein (Potential)
Secondary accessions : A6NED5 Q5SPY5 Q5W9G5 Q76MW7Alternative splicing : 2 isoforms : Q9BZC7-1 Q9BZC7-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001597.2 NP_997698.1 ENSEMBL proteins: ENSP00000347205 ENSP00000360666 ENSP00000265662 ENSP00000344155 ENSP00000381268 ENSP00000381265 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for ABCA2: Assays for ABCA2:
Protein
Domains/ Families for ABCA2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9BZC7 ProtoNet protein and cluster: Q9BZC7
UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7 Similarity : Belongs to the ABC transporter family. ABCA subfamilySimilarity : Contains 2 ABC transporter domains
Gene Function for ABCA2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_212533 Applied Biosystems Silencer ® siRNAs for ABCA2 Sigma-Aldrich siRNA and siRNA Panels for ABCA2 Sigma-Aldrich shRNA for ABCA2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001606                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001606                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001606  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_212533 UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7 Function : Probable transporter, its natural substrate has not been found yet. May have a role inmacrophage lipid metabolism and neural development
Genatlas biochemistry entry for ABCA2 :ATP binding cassette superfamily,subfamily A,member 2,mouse ABC2 homolog,widely expressed
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Abca2) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ABCA2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for ABCA2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for ABCA2 5/14 Interacting proteins for ABCA2 (ENSP00000347205 3 ) via UniProtKB, MINT, and/or STRING (see all 14
)About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
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Drugs & Compounds for ABCA2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ABCA2 7 Novoseek chemical compound relationships for ABCA2 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
abc2
98.16
22
10970803 (7), 9537224 (5), 11270397 (2), 11804192 (1) (see all 6 )
8-azido-atp
80.70
1
10970803 (1)
aaph
68.56
3
17029687 (1), 17266523 (1)
atp
36.53
5
15238223 (2), 12560508 (1), 15999530 (1), 10970803 (1)
cholesterol
30.56
8
17029687 (3), 15238223 (2), 17266523 (2)
estradiol
24.14
2
17029687 (1), 17266523 (1)
lipid
0.00
1
16752360 (1)
About this table
Transcripts for ABCA2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_212533 Sigma-Aldrich siRNA and siRNA Panels for ABCA2 Sigma-Aldrich shRNA for ABCA2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001606 NM_212533
REFSEQ mRNAs for ABCA2 gene (2 alternative transcripts): NM_001606.4 NM_212533.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001606 NM_212533
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001606                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001606                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001606  
Additional cDNA sequence: AB028985.2 AB177854.1 AF178941.1 AF327657.1 AK295489.1 AK308738.1 AL162060.1 AL833967.1 BC008755.1 BC029282.1 BC064542.1 BC090860.1 BC109244.1 BC144588.1 BC144589.1 U18236.1
18 DOTS entries : DT.92441449 DT.100760652 DT.313167 DT.91698218 DT.95259311 DT.100036596 DT.121190633 DT.100834574 DT.100766847 DT.92441447 DT.97855540 DT.100732609 DT.102828477 DT.121190624 DT.121190474 DT.95244735 DT.95259318 DT.97782175
24/308 AceView cDNA sequences (see all 308
):AI174196 BI756105 BM314649 BF516223 AF327657 BQ962877 BM820930 CB069459 CK821360 BM479039 CA454711 CA942248 AL833967 BI755960 BG315241 BE273611 BM709196 NM_001606 BF851321 BM848734 AB028985 CA454786 AA351626 BI039809
highest scoring ESTs for ABCA2 :AB028985 BM921499 BM921500 AA324817 AA351625 AA351626 AA702968 AA725355 AA748768 AA772600
Unigene Cluster for ABCA2: ATP-binding cassette, sub-family A (ABC1), member 2 Hs.421202 [show with all ESTs ] Unigene Representative Sequence: NM_001606 GeneLoc Exon Structure 5/19 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA2 (see all 19
) ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ SP1 :                                                     SP2 :     -                                                 SP3 :                                                     SP4 :                                                     SP5 :                                                    
ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32a · 32b ^ 33a · 33b · 33c ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ SP1 :                 -             -                         SP2 :                                                     SP3 :                             -     -                     SP4 :                             -     -                     SP5 :                                 -                    
ExUns: 39a · 39b · 39c ^ 40a · 40b ^ 41a · 41b ^ 42a · 42b · 42c ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^ 47a · 47b ^ 48 ^ 49 ^ 50 ^ 51a · 51b · 51c SP1 :                                               SP2 :                                               SP3 :                                               SP4 :                                               SP5 :                                              
About this scheme ECgene alternative splicing isoforms for ABCA2 6 Ensembl transcripts including schematic representations : ENST00000355090
ENST00000371605
ENST00000265662
ENST00000341511
ENST00000398210
ENST00000398207
Expression for ABCA2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ABCA2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ABCA2 1 / 2 / 3
8 probe-sets matching ABCA2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCCTGCGGTCSOURCE GeneReport for Unigene cluster: Hs.421202 Expression variation in blood from EXPOLDB for ABCA2
Orthologs for ABCA2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ABCA2 gene from 4 species
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
ABCA21
--
ATP-binding cassette, sub-family A (ABC1), member 2
87.66(n) 92.07(a)
480669 XM_537788.2 XP_537788.2
rat (Rattus norvegicus)
Abca21
--
ATP-binding cassette, sub-family A (ABC1), member 2
86.81(n) 92.97(a)
79248 NM_024396.1 NP_077372.1
mouse (Mus musculus)
Abca21 , 5
2 (12.60 cM) 5
ATP-binding cassette, sub-family A (ABC1), member 21, 5
86.62(n) 1 93.46(a) 1
11305 1 NM_007379.2 1 NP_031405.2 1 AI413825 5 AI451433 5 (see all 14 )
fruit fly (Drosophila melanogaster)
BG:DS00797.53
34D1
ATP-binding cassette (ABC) transporter
32(a)
--
About this table Species with no ortholog for ABCA2 ENSEMBL Gene Tree for ABCA2 Paralogs for ABCA2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ABCA2 gene ABCA12 2 ABCA13 2
SNPs/Variants for ABCA2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ABCA2 (up to first 250kb)
Disorders & Mutations for ABCA2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600047 6 Novoseek disease relationships for ABCA2 gene
About this table Human Genome Epidemiology Navigator: ABCA2 (4 documents)
Medical News for ABCA2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ABCA2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/35 PubMed articles for ABCA2 gene (see all 35
): Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages. (PubMed id 11178988) 3, 4 Kaminski W.E.... Schmitz G. (2001) Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851) 3, 4 Kikuno R....Ohara O. (1999) Cloning of two novel ABC transporters mapping on human chromosome 9. (PubMed id 8088782) 2, 3 Luciani M.F....Chimini G. (1994) Cloning and characterization of human adenosine 5'-triphosphate- binding cassette, sub-family A, transporter 2 (ABCA2). (PubMed id 11309290) 1, 3 Vulevic B.... Tew K.D. (2001) Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve. (PubMed id 15850583) 1, 3 Wang Y....Inagaki N. (2005) Cloning, characterization and tissue distribution of the rat ATP- binding cassette (ABC) transporter ABC2/ABCA2. (PubMed id 10970803) 1, 3 Zhao L.-X.... Inagaki N. (2000) Reciprocal regulation of expression of the human adenosine 5'-triphosphate binding cassette, sub-family A, transporter 2 (ABCA2) promoter by the early growth response-1 (EGR-1) and Sp-family transcription factors. (PubMed id 12560508) 1, 3 Davis W....Tew K.D. (2003) Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease. (PubMed id 16752360) 1, 3 Wollmer M.A....Papassotiropoulos A. (2006) Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells. (PubMed id 15238223) 1, 3 Davis W....Tew K.D. (2004)
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Genome Databases showing ABCA2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ABCA2
(According to HUGE )
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Specialized Databases showing ABCA2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for ABCA2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for ABCA2:
Search Tocris compounds for ABCA2
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009