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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABCA2 Gene

protein-coding GIFtS: 60
GCID: GC09M139901

ATP-binding cassette, sub-family A (ABC1), member 2

(Previous symbol: ABC2)

Explore 16 diseases affiliated with
ABCA2 via

MalaCards

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Human Malady Compendium

(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 2¹ ²		ATP-Binding Cassette, Sub-Family A, Member 2²
ABC2¹ ² ³ ⁵		KIAA1062³
ATP-Binding Cassette 2² ³		EC 3.6.3⁸
ATP-Binding Cassette Transporter 2² ³		EC 3.6.3.41⁸
ATP-Binding Cassette Sub-Family A Member 2²

External Ids:	HGNC: 32¹	Entrez Gene: 20²	Ensembl: ENSG00000107331⁷	OMIM: 600047⁵	UniProtKB: Q9BZC7³

Export aliases for ABCA2 gene to outside databases

Previous GC identifers: GC09P131061 GC09M131591 GC09M133342 GC09M135258 GC09M137177 GC09M139021 GC09M109360

(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 ABCA2:

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. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and

neural development. Two transcript variants encoding different isoforms have been found for this gene. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7

Function: Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid

metabolism and neural development

Gene Wiki entry for ABCA2

(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_000009.11 NC_018920.1 NT_024000.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABCA2 gene promoter:
GATA-3 NRSF form 1 NRSF form 2 GATA-1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ABCA2 promoter sequence

Search SABiosciences Chromatin IP Primers for ABCA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA2

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

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)
ABCA2 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M139901: view genomic region (about GC identifiers)

Start:	139,901,686 bp from pter	End:	139,923,374 bp from pter
Size:	21,689 bases	Orientation:	minus strand

(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: ABCA2_HUMAN, Q9BZC7 (See protein sequence)

Recommended Name: ATP-binding cassette sub-family A member 2

Size: 2435 amino acids; 269873 Da

Subcellular location: Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Note=Forms discrete, punctate intracellular vesicles

Secondary accessions: A6NED5 Q5SPY5 Q5W9G5 Q76MW7 Q9HC28

Alternative splicing: 3 isoforms: Q9BZC7-1 Q9BZC7-2 Q9BZC7-3 (Ref.1 (AAK14334/AAK14335) and Ref.2 (AAG09372) sequences are in conflict in position: 55:S->P)

Explore the universe of human proteins at neXtProt for ABCA2: NX_Q9BZC7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BZC7

3 DME Specific Peptides for ABCA2 (Q9BZC7)

LDEPTAG

LDEPTTG

NGAGKTT

ABCA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001597.2 NP_997698.1

ENSEMBL proteins:

ENSP00000344155 ENSP00000420084 ENSP00000420527 ENSP00000418662 ENSP00000420360

ENSP00000406741 ENSP00000418732 ENSP00000419850 ENSP00000420289 ENSP00000417701

ENSP00000265662 ENSP00000360666

Reactome Protein details: Q9BZC7
Human Recombinant Protein Products:

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	Novus Biologicals ABCA2 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ABCA2

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IDA	11309290
GO:0005765	lysosomal membrane	RCA	11309290
GO:0005768	endosome	IDA	11309290
GO:0005815	microtubule organizing center	ISS	--
GO:0010008	endosome membrane	IEA	--

ABCA2 for ontologies About GeneDecksing

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	Uscn Antibodies for ABCA2
	Search ThermoFisher Antibodies for ABCA2

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	Uscn ELISAs and CLIAs for ABCA2

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

ABCA2 for domains About GeneDecksing

4 InterPro domains/families:

IPR003439 ABC_transporter-like

IPR003593 AAA+_ATPase

IPR026082 ABC_A

IPR017871 ABC_transporter_CS

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 superfamily. ABCA family

Similarity: Contains 2 ABC transporter domains

(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: ABCA2_HUMAN, Q9BZC7

Function: Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid

metabolism and neural development

Genatlas biochemistry entry for ABCA2:

ATP binding cassette superfamily,subfamily A,member 2,mouse ABC2 homolog,widely expressed

Enzyme Numbers (IUBMB): EC 3.6.3.41² EC 3.6.3²

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		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCA2 (see all 10):
		hsa-miR-3910 hsa-miR-495 hsa-miR-548p hsa-miR-1271 hsa-miR-182 hsa-miR-124 hsa-miR-330-3p hsa-miR-506

		SwitchGear 3'UTR luciferase reporter plasmid: ABCA2 3' UTR sequence

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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ABCA2
		Search LifeMap BioReagents cell lines for ABCA2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	RCA	12363033
GO:0005524	ATP binding	ISS	--
GO:0016887	ATPase activity	IDA	15999530
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	NAS	7766993

ABCA2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for ABCA2: Abca2^tm1Nina Abca2^tm1Kdt
     6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Abca2):

behavior/neurological	growth/size	homeostasis/metabolism	mortality/aging	nervous system
reproductive system

ABCA2 for phenotypes About GeneDecksing

(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-pathway

contained gene-specific pathways

ABC-family proteins mediated transport

	ABC-family proteins mediated transport	1.00			ABCA transporters in lipid homeostasis	0.47
	ABC transporters	0.70

Lysosome

Lysosome

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for ABCA2

	ABC-family proteins mediated transport
	ABCA transporters in lipid homeostasis
	Transmembrane transport of small molecules

2 Kegg Pathways (Kegg details for ABCA2):

	ABC transporters
	Lysosome

ABCA2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ABCA2

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

5/8 Interacting proteins for ABCA2 (Q9BZC7³ ENSP00000344155⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDK5RAP2	Q96SN8³, ENSP00000343818⁴	I2D: score=2 STRING: ENSP00000343818
CACNA1A	O00555³	I2D: score=1
ABCB6	ENSP00000265316⁴	STRING: ENSP00000265316
ABCD4	ENSP00000349396⁴	STRING: ENSP00000349396
ABCA7	ENSP00000263094⁴	STRING: ENSP00000263094

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006200	ATP catabolic process	IDA	15999530
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	15238223
GO:0006629	lipid metabolic process	NAS	11178988
GO:0006810	transport	NAS	7766993
GO:0032383	regulation of intracellular cholesterol transport	IMP	15238223

ABCA2 for ontologies About GeneDecksing

(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

ABCA2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ABCA2
9 Novoseek chemical compound relationships for ABCA2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
abc2	98	22	10970803 (7), 9537224 (5), 11270397 (2), 11804192 (1) (see all 6)
estramustine	86.6	9	9537224 (5), 15150577 (1), 17029687 (1), 17266523 (1)
8-azido-atp	80.2	1	10970803 (1)
aaph	67.2	3	17029687 (1), 17266523 (1)
mitoxantrone	66.8	5	15150577 (2), 17029687 (1), 17266523 (1)
atp	34.9	5	15238223 (2), 12560508 (1), 15999530 (1), 10970803 (1)
cholesterol	28.5	8	17029687 (3), 15238223 (2), 17266523 (2)
estradiol	22.4	2	17029687 (1), 17266523 (1)
lipid	0	1	16752360 (1)

Search CenterWatch for drugs/clinical trials and news about ABCA2

(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 ABCA2 gene (2 alternative transcripts):

NM_001606.4 NM_212533.2

Unigene Cluster for ABCA2:

ATP-binding cassette, sub-family A (ABC1), member 2

Hs.421202 [show with all ESTs]

Unigene Representative Sequence: NM_001606

18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):

ENST00000341511(uc004ckn.1) ENST00000479446 ENST00000459850(uc004ckm.1)

ENST00000487109 ENST00000464520 ENST00000490486 ENST00000448336 ENST00000464157(uc022bqa.1)

ENST00000463603 ENST00000437791 ENST00000431584 ENST00000477420 ENST00000488535

ENST00000466707 ENST00000492260(uc004cko.1) ENST00000470535 ENST00000467624

ENST00000464876(uc010nca.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ABCA2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCA2
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCA2 (see all 10):
		hsa-miR-3910 hsa-miR-495 hsa-miR-548p hsa-miR-1271 hsa-miR-182 hsa-miR-124 hsa-miR-330-3p hsa-miR-506

		SwitchGear 3'UTR luciferase reporter plasmid: ABCA2 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCA2 (see all 7) OriGene shRNA RFP: ABCA2 OriGene siRNA: ABCA2
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		GenScript: all cDNA clones in your preferred vector (see all 2): ABCA2 (NM_212533)
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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 JF279959.1

JF279960.1 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):

CA454711 AI174196 BM709196 CA454786 AA351626 AB028985 CA942248 AL833967

NM_001606 BM849955 BM479039 BQ962877 AF327657 BM820930 BI756105 BF516223

CB069459 BG315241 BI755960 BE273611 NM_212533 R45304 AA324817 BM849921

GeneLoc Exon Structure

5/19 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA2 (see all 19) About this scheme

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:

ECgene alternative splicing isoforms for ABCA2

(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

ABCA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTGCGGTC

About this image

ABCA2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ABCA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCA2

SOURCE GeneReport for Unigene cluster: Hs.421202

UniProtKB/Swiss-Prot: ABCA2_HUMAN, Q9BZC7

Tissue specificity: Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver

SABiosciences Expression via Pathway-Focused PCR Arrays including ABCA2:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Drug Transporters in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA2

(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 ABCA2 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ABCA2¹	ATP-binding cassette, sub-family A (ABC1), member 2	79.19(n) 83.08(a)		426955 XM_003642268.1 XP_003642316.1
lizard (Anolis carolinensis)	Reptilia	ABCA2⁶	--	79(a)	1 ↔ 1	GL343888.1(119593-166846)
zebrafish (Danio rerio)	Actinopterygii	LOC100006090¹	novel protein similar to vertebrate ATP-binding cassette more	71.63(n) 79.02(a)		100006090 XM_001344918.2 XP_001344954.2
worm (Caenorhabditis elegans)	Secernentea	abt-2⁶	ABC Transporter family member (abt-2)	23(a)	1 → many	I(2255925-2272868)
thale cress (Arabidopsis thaliana)	eudicotyledons	ABCA1⁶	ABC transporter A family member 1	27(a)	1 → many	2(17382890-17396110)

ENSEMBL Gene Tree for ABCA2 (if available)
TreeFam Gene Tree for ABCA2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ABCA2 gene

ABCG1² ABCA10² ABCA13² ABCA3² ABCG8² ABCA6² ABCA5² ABCG2²

ABCA1² ABCA8² ABCG4² ABCA4² ABCA12² ABCA7² ABCG5² ABCA9²

18/20 SIMAP similar genes for ABCA2 using alignment to 15 protein entries: ABCA2_HUMAN (see all proteins) (see all similar genes):

DKFZp547P193 ABC2 ABCA4 DKFZp434E1030 DKFZp781N1972 ABCA8

ABCA13 DKFZp686F2450 ABCA9 ABCA3 variant protein ABCA5 ABCA12

ABCA10 ABCA6 ABCA3 ABCA7 ABCA1 ABC1

ABCA2 for paralogs About GeneDecksing

(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)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77690711^1,2	F,	--	139901220(+)	`TCCACC/TGCTGA`	2	--	ds500¹		1		WA	118
rs180773690^1,2		--	139901332(+)	`TCTCCG/TCCTGG`	2	--	ds500¹		0	--	--	--	--
rs139342127^1,2		--	139901410(+)	`TGCAGA/GCCCCA`	2	--	ds500¹		0	--	--	--	--
rs73562693^1,2	C,	--	139901436(+)	`GTGAAG/AGAGGC`	2	--	ds500¹		1		WA	2
rs76433832^1,2	F,	--	139901491(+)	`GGGCCG/AGGAGC`	2	--	ds500¹		1		WA	118
rs191928486^1,2		--	139901534(+)	`ACCATA/GGTGAA`	2	--	ds500¹		0	--	--	--	--
rs7857948^1,2	C	--	139901681(+)	`CAGACC/TCGCAG`	2	--	ds500¹		2		NA	4
rs7036668^1,2	C,F,A,H,	--	139901891(+)	`CCCGCG/AGGACA`	2	--	ut3¹ ese³		22		NS EA NA WA CSA	2340
rs142538076^1,2		--	139901938(+)	`TCTTCC/TCAAAG`	2	--	ut3¹		0	--	--	--	--
rs4335222^1,2	C,F,H,	--	139901981(-)	`AGCGGG/TCTGTG`	2	--	ut3¹ ese³		5		NA NS	362

HapMap Linkage Disequilibrium report for ABCA2 (139901686 - 139923374 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ABCA2
3 CNVs: 9631 30350 5415
Human Gene Mutation Database (HGMD): ABCA2

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(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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ABCA2 for disorders           About GeneDecksing

OMIM gene information: 600047    OMIM disorders: --

16 diseases for ABCA2:    About MalaCards

neuroma systemic lupus erythematosus lupus erythematosus macular degeneration

ovarian carcinoma alzheimer's disease dementia pharyngitis

lung cancer ataxia pneumonia carcinoma

cholesterol tuberculosis prostatitis mycobacterium tuberculosis

1 disease from the University of Copenhagen DISEASES database for ABCA2:

Developmental coordination disorder

6 Novoseek disease relationships for ABCA2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ovarian carcinoma	49.8	3	9537224 (1), 17029687 (1), 17266523 (1)
neuroma acoustic	49.7	3	15850583 (2), 17266523 (1)
senile plaques	43.3	4	17029687 (1), 17266523 (1)
atherosclerosis	11.1	2	17029687 (1), 17266523 (1)
alzheimers disease	9.48	3	16752360 (2), 17029687 (1)
cancer	0	2	17029687 (1), 17266523 (1)

Human Genome Epidemiology (HuGE) Navigator: ABCA2 (9 documents)

Export disorders for ABCA2 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 ABCA2 gene, integrated from 9 sources (see all 47):
(articles sorted by number of sources associating them with ABCA2)

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Cloning and characterization of human adenosine 5'-triphosphate- binding cassette, sub-family A, transporter 2 (ABCA2). (PubMed id 11309290)^{1, 2, 9} Vulevic B.... Tew K.D. (2001)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} 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)^{1, 2} 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)^{1, 2} Kikuno R....Ohara O. (1999)
Cloning of two novel ABC transporters mapping on human chromosome 9. (PubMed id 8088782)^{1, 3} Luciani M.F....Chimini G. (1994)
Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve. (PubMed id 15850583)^{1, 9} Wang Y....Inagaki N. (2005)
Cloning, characterization and tissue distribution of the rat ATP- binding cassette (ABC) transporter ABC2/ABCA2. (PubMed id 10970803)^{1, 9} 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, 9} Davis W....Tew K.D. (2003)
Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease. (PubMed id 16752360)^{1, 9} 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, 9} Davis W....Tew K.D. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 20	HGNC: 32	AceView: ABCA2	Ensembl:ENSG00000107331	euGenes: HUgn20
ECgene: ABCA2	Kegg: 20	H-InvDB: ABCA2

(According to HUGE)
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HUGE: KIAA1062

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ABCA2	Pharmacogenomics, SNPs, Pathways
ABCMdb	http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9BZC7

Intellectual Property for ABCA2 gene
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Patent Information for ABCA2 gene:
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ABCA2 Gene

ATP-binding cassette, sub-family A (ABC1), member 2

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ABCA2 Gene

ATP-binding cassette, sub-family A (ABC1), member 2

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