Property Summary

NCBI Gene PubMed Count 36
PubMed Score 32.25
PubTator Score 98.49

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 1.400 8.0e-06
psoriasis -1.500 6.8e-05
group 3 medulloblastoma -1.900 7.8e-03
adult high grade glioma -1.100 1.8e-02
atypical teratoid/rhabdoid tumor -1.300 2.9e-04
posterior fossa group B ependymoma -1.300 8.0e-05
subependymal giant cell astrocytoma -2.707 9.1e-03
lung carcinoma 1.300 3.6e-24
Pick disease -1.200 2.0e-03
Down syndrome 1.800 9.7e-04

Gene RIF (20)

PMID Text
24145140 Our findings indicate a considerable and direct relationship between mRNA expression levels of ABCA2, ABCA3, MDR1, and MRP1 genes and positive minimal residual disease (MRD) measured after one year of treatment.
22086926 Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization.
21707071 SLC2A1/GLUT1, SLC1A3/EAAT1, and SLC1A2/EAAT2 were the main SLC proteins whereas ABCG2/BCRP, ABCB1/MDR1, ABCA2 and ABCA8 were the main ABC quantified in isolated brain microvessels
21072184 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
21041019 we demonstrate that ABCA2-deficiency inhibits prostate tumor metastasis in vivo and decreases chemotactic potential of cells
20704561 A possible biochemical mechanism links ABCA2 expression, amyloid precursor protein processing, and Alzheimer's disease.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20167577 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
18336955 No association of ABCA2 Single Nucleotide Polymorphism on chromosome 9 with Alzheimer's disease.
18336955 Observational study of gene-disease association. (HuGE Navigator)
16752360 Observational study of gene-disease association. (HuGE Navigator)
16752360 Data suggest that ABCA2 may exert population-dependent effects on the genetic risk for sporadic Alzheimer's disease and support a role of ABC lipid transporters in the pathogenesis of this disease.
15850583 the expression patterns of ABCA2 in combination with other markers showed phenotypic heterogeneity in schwannomas
15649702 Among the 45 ABCA2 single nucleotide polymorphisms(SNPs) we tested, one synonymous SNP (rs908832) was found significantly associated with AD in both samples.
15155565 Increased expression of ABCA2 may be causally linked with altered expression of genes associated with the pathogenesis of Alzheimer disease.
15093135 It is likely that expression of ABCA2 by two independent promoters constitutes locus of regulation controlling expression of the protein to meet requirements in different tissues.
12560508 Reciprocal regulation of expression of the ABCA2 promoter by the early growth response-1 and Sp-family transcription factors.
12363033 roles for this largest known ABC protein in neural transmembrane lipid export

AA Sequence

MGFLHQLQLLLWKNVTLKRRSPWVLAFEIFIPLVLFFILLGLRQKKPTISVKEAFYTAAPLTSAGILPVM      1 - 70
QSLCPDGQRDEFGFLQYANSTVTQLLERLDRVVEEGNLFDPARPSLGSELEALRQHLEALSAGPGTSGSH     71 - 140
LDRSTVSSFSLDSVARNPQELWRFLTQNLSLPNSTAQALLAARVDPPEVYHLLFGPSSALDSQSGLHKGQ    141 - 210
EPWSRLGGNPLFRMEELLLAPALLEQLTCTPGSGELGRILTVPESQKGALQGYRDAVCSGQAAARARRFS    211 - 280
GLSAELRNQLDVAKVSQQLGLDAPNGSDSSPQAPPPRRLQALLGDLLDAQKVLQDVDVLSALALLLPQGA    281 - 350
CTGRTPGPPASGAGGAANGTGAGAVMGPNATAEEGAPSAAALATPDTLQGQCSAFVQLWAGLQPILCGNN    351 - 420
RTIEPEALRRGNMSSLGFTSKEQRNLGLLVHLMTSNPKILYAPAGSEVDRVILKANETFAFVGNVTHYAQ    421 - 490
VWLNISAEIRSFLEQGRLQQHLRWLQQYVAELRLHPEALNLSLDELPPALRQDNFSLPSGMALLQQLDTI    491 - 560
DNAACGWIQFMSKVSVDIFKGFHDEESIVNYTLNQAYQDNVTVFASVIFQTRKDGSLPPHVHYKIRQNSS    561 - 630
FTEKTNEIRRAYWRPGPNTGGRFYFLYGFVWIQDMMERAIIDTFVGHDVVEPGSYVQMFPYPCYTRDDFL    631 - 700
FVIEHMMPLCMVISWVYSVAMTIQHIVAEKEHRLKEVMKTMGLNNAVHWVAWFITGFVQLSISVTALTAI    701 - 770
LKYGQVLMHSHVVIIWLFLAVYAVATIMFCFLVSVLYSKAKLASACGGIIYFLSYVPYMYVAIREEVAHD    771 - 840
KITAFEKCIASLMSTTAFGLGSKYFALYEVAGVGIQWHTFSQSPVEGDDFNLLLAVTMLMVDAVVYGILT    841 - 910
WYIEAVHPGMYGLPRPWYFPLQKSYWLGSGRTEAWEWSWPWARTPRLSVMEEDQACAMESRRFEETRGME    911 - 980
EEPTHLPLVVCVDKLTKVYKDDKKLALNKLSLNLYENQVVSFLGHNGAGKTTTMSILTGLFPPTSGSATI    981 - 1050
YGHDIRTEMDEIRKNLGMCPQHNVLFDRLTVEEHLWFYSRLKSMAQEEIRREMDKMIEDLELSNKRHSLV   1051 - 1120
QTLSGGMKRKLSVAIAFVGGSRAIILDEPTAGVDPYARRAIWDLILKYKPGRTILLSTHHMDEADLLGDR   1121 - 1190
IAIISHGKLKCCGSPLFLKGTYGDGYRLTLVKRPAEPGGPQEPGLASSPPGRAPLSSCSELQVSQFIRKH   1191 - 1260
VASCLLVSDTSTELSYILPSEAAKKGAFERLFQHLERSLDALHLSSFGLMDTTLEEVFLKVSEEDQSLEN   1261 - 1330
SEADVKESRKDVLPGAEGPASGEGHAGNLARCSELTQSQASLQSASSVGSARGDEGAGYTDVYGDYRPLF   1331 - 1400
DNPQDPDNVSLQEVEAEALSRVGQGSRKLDGGWLKVRQFHGLLVKRFHCARRNSKALFSQILLPAFFVCV   1401 - 1470
AMTVALSVPEIGDLPPLVLSPSQYHNYTQPRGNFIPYANEERREYRLRLSPDASPQQLVSTFRLPSGVGA   1471 - 1540
TCVLKSPANGSLGPTLNLSSGESRLLAARFFDSMCLESFTQGLPLSNFVPPPPSPAPSDSPASPDEDLQA   1541 - 1610
WNVSLPPTAGPEMWTSAPSLPRLVREPVRCTCSAQGTGFSCPSSVGGHPPQMRVVTGDILTDITGHNVSE   1611 - 1680
YLLFTSDRFRLHRYGAITFGNVLKSIPASFGTRAPPMVRKIAVRRAAQVFYNNKGYHSMPTYLNSLNNAI   1681 - 1750
LRANLPKSKGNPAAYGITVTNHPMNKTSASLSLDYLLQGTDVVIAIFIIVAMSFVPASFVVFLVAEKSTK   1751 - 1820
AKHLQFVSGCNPIIYWLANYVWDMLNYLVPATCCVIILFVFDLPAYTSPTNFPAVLSLFLLYGWSITPIM   1821 - 1890
YPASFWFEVPSSAYVFLIVINLFIGITATVATFLLQLFEHDKDLKVVNSYLKSCFLIFPNYNLGHGLMEM   1891 - 1960
AYNEYINEYYAKIGQFDKMKSPFEWDIVTRGLVAMAVEGVVGFLLTIMCQYNFLRRPQRMPVSTKPVEDD   1961 - 2030
VDVASERQRVLRGDADNDMVKIENLTKVYKSRKIGRILAVDRLCLGVRPGECFGLLGVNGAGKTSTFKML   2031 - 2100
TGDESTTGGEAFVNGHSVLKELLQVQQSLGYCPQCDALFDELTAREHLQLYTRLRGISWKDEARVVKWAL   2101 - 2170
EKLELTKYADKPAGTYSGGNKRKLSTAIALIGYPAFIFLDEPTTGMDPKARRFLWNLILDLIKTGRSVVL   2171 - 2240
TSHSMEECEALCTRLAIMVNGRLRCLGSIQHLKNRFGDGYMITVRTKSSQSVKDVVRFFNRNFPEAMLKE   2241 - 2310
RHHTKVQYQLKSEHISLAQVFSKMEQVSGVLGIEDYSVSQTTLDNVFVNFAKKQSDNLEQQETEPPSALQ   2311 - 2380
SPLGCLLSLLRPRSAPTELRALVADEPEDLDTEDEGLISFEEERAQLSFNTDTLC                  2381 - 2435
//

Text Mined References (41)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24145140 2014 mRNA expression profile of multidrug-resistant genes in acute lymphoblastic leukemia of children, a prognostic value for ABCA3 and ABCA2.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22086926 2012 Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-? production by altering Nicastrin maturation and intracellular localization.
21707071 2011 Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.
21072184 2010 Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition.
21041019 2011 ABCA2 transporter deficiency reduces incidence of TRAMP prostate tumor metastasis and cellular chemotactic migration.
20704561 2010 The ATP-binding cassette transporter-2 (ABCA2) increases endogenous amyloid precursor protein expression and A? fragment generation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20167577 2010 Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18336955 2009 No association of DAPK1 and ABCA2 SNPs on chromosome 9 with Alzheimer's disease.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16752360 2006 Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15999530 Characterization of the ATPase activity of human ATP-binding cassette transporter-2 (ABCA2).
15850583 2005 Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve.
15649702 2005 ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease.
15491607 2004 Alternative splice variants encoding unstable protein domains exist in the human brain.
15238223 2004 Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells.
15203218 2004 Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15155565 2004 Association of ABCA2 expression with determinants of Alzheimer's disease.
15093135 2004 Identification of a novel first exon of the human ABCA2 transporter gene encoding a unique N-terminus.
12560508 2003 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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
12363033 2002 ABCA2: a candidate regulator of neural transmembrane lipid transport.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
11309290 2001 Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2).
11178988 2001 Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages.
10970803 2000 Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2.
10639163 2000 ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport.
10470851 1999 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.
8088782 1994 Cloning of two novel ABC transporters mapping on human chromosome 9.
7766993 1995 Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database.
1538749 1992 Sequence identification of 2,375 human brain genes.