Property Summary

NCBI Gene PubMed Count 48
Grant Count 31
R01 Count 23
Funding $2,363,698.39
PubMed Score 148.66
PubTator Score 87.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma 1.300 0.000
psoriasis 1.100 0.002
osteosarcoma -2.896 0.000
glioblastoma -1.200 0.000
medulloblastoma, large-cell -1.100 0.001
Atopic dermatitis 1.100 0.000
tuberculosis 1.100 0.000
intraductal papillary-mucinous neoplasm ... 1.400 0.006
pediatric high grade glioma -1.100 0.000

Gene RIF (35)

PMID Text
26654793 Study replicates the association of ABCA7 loss-of-function variants with Alzheimer's disease risk, and highlights the necessity of performing gene-based, rather than single-variant analyses to replicate the association in this type of studies
26517904 Studies indicate that ATP-binding cassette transporter A7 (ABCA7) single nucleotide polymorphisms (SNPs) that increase Alzheimer's disease (AD) risk.
26260791 ABCA7 has a role in Alzheimer amyloid processing
26141617 Loss-of-function of ABCA7 could be a potential mechanism of Alzheimer's disease as shown in a Belgian cohort.
25807283 Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders. [meta-analysis]
25665932 The results are consistent with the view that assembly of HDL particles with extracellular apoA-I is primarily with the cellular phospholipid molecules being regulated in part by their physicochemical nature.
25365775 Brain DNA methylation in ABCA7 was associated with pathological Alzheimer disease.
24908168 It is a susceptibility gene of Alzheimer's disease in the Han-Chinese in Taiwan.
24743338 Of those 394 variants, 34 showed strong evidence of regulatory function (RegulomeDB score <3), and only 3 of them were genome-wide significant SNPs (ZCWPW1/rs1476679, CLU/rs1532278 and ABCA7/rs3764650).
24643655 Collectively, our analysis further supports previous findings that the ABCA7 rs3764650 polymorphism is associated with Alzheimer disease susceptibility.
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AA Sequence

MAFWTQLMLLLWKNFMYRRRQPVQLLVELLWPLFLFFILVAVRHSHPPLEHHECHFPNKPLPSAGTVPWL      1 - 70
QGLICNVNNTCFPQLTPGEEPGRLSNFNDSLVSRLLADARTVLGGASAHRTLAGLGKLIATLRAARSTAQ     71 - 140
PQPTKQSPLEPPMLDVAELLTSLLRTESLGLALGQAQEPLHSLLEAAEDLAQELLALRSLVELRALLQRP    141 - 210
RGTSGPLELLSEALCSVRGPSSTVGPSLNWYEASDLMELVGQEPESALPDSSLSPACSELIGALDSHPLS    211 - 280
RLLWRRLKPLILGKLLFAPDTPFTRKLMAQVNRTFEELTLLRDVREVWEMLGPRIFTFMNDSSNVAMLQR    281 - 350
LLQMQDEGRRQPRPGGRDHMEALRSFLDPGSGGYSWQDAHADVGHLVGTLGRVTECLSLDKLEAAPSEAA    351 - 420
LVSRALQLLAEHRFWAGVVFLGPEDSSDPTEHPTPDLGPGHVRIKIRMDIDVVTRTNKIRDRFWDPGPAA    421 - 490
DPLTDLRYVWGGFVYLQDLVERAAVRVLSGANPRAGLYLQQMPYPCYVDDVFLRVLSRSLPLFLTLAWIY    491 - 560
SVTLTVKAVVREKETRLRDTMRAMGLSRAVLWLGWFLSCLGPFLLSAALLVLVLKLGDILPYSHPGVVFL    561 - 630
FLAAFAVATVTQSFLLSAFFSRANLAAACGGLAYFSLYLPYVLCVAWRDRLPAGGRVAASLLSPVAFGFG    631 - 700
CESLALLEEQGEGAQWHNVGTRPTADVFSLAQVSGLLLLDAALYGLATWYLEAVCPGQYGIPEPWNFPFR    701 - 770
RSYWCGPRPPKSPAPCPTPLDPKVLVEEAPPGLSPGVSVRSLEKRFPGSPQPALRGLSLDFYQGHITAFL    771 - 840
GHNGAGKTTTLSILSGLFPPSGGSAFILGHDVRSSMAAIRPHLGVCPQYNVLFDMLTVDEHVWFYGRLKG    841 - 910
LSAAVVGPEQDRLLQDVGLVSKQSVQTRHLSGGMQRKLSVAIAFVGGSQVVILDEPTAGVDPASRRGIWE    911 - 980
LLLKYREGRTLILSTHHLDEAELLGDRVAVVAGGRLCCCGSPLFLRRHLGSGYYLTLVKARLPLTTNEKA    981 - 1050
DTDMEGSVDTRQEKKNGSQGSRVGTPQLLALVQHWVPGARLVEELPHELVLVLPYTGAHDGSFATLFREL   1051 - 1120
DTRLAELRLTGYGISDTSLEEIFLKVVEECAADTDMEDGSCGQHLCTGIAGLDVTLRLKMPPQETALENG   1121 - 1190
EPAGSAPETDQGSGPDAVGRVQGWALTRQQLQALLLKRFLLARRSRRGLFAQIVLPALFVGLALVFSLIV   1191 - 1260
PPFGHYPALRLSPTMYGAQVSFFSEDAPGDPGRARLLEALLQEAGLEEPPVQHSSHRFSAPEVPAEVAKV   1261 - 1330
LASGNWTPESPSPACQCSRPGARRLLPDCPAAAGGPPPPQAVTGSGEVVQNLTGRNLSDFLVKTYPRLVR   1331 - 1400
QGLKTKKWVNEVRYGGFSLGGRDPGLPSGQELGRSVEELWALLSPLPGGALDRVLKNLTAWAHSLDAQDS   1401 - 1470
LKIWFNNKGWHSMVAFVNRASNAILRAHLPPGPARHAHSITTLNHPLNLTKEQLSEGALMASSVDVLVSI   1471 - 1540
CVVFAMSFVPASFTLVLIEERVTRAKHLQLMGGLSPTLYWLGNFLWDMCNYLVPACIVVLIFLAFQQRAY   1541 - 1610
VAPANLPALLLLLLLYGWSITPLMYPASFFFSVPSTAYVVLTCINLFIGINGSMATFVLELFSDQKLQEV   1611 - 1680
SRILKQVFLIFPHFCLGRGLIDMVRNQAMADAFERLGDRQFQSPLRWEVVGKNLLAMVIQGPLFLLFTLL   1681 - 1750
LQHRSQLLPQPRVRSLPLLGEEDEDVARERERVVQGATQGDVLVLRNLTKVYRGQRMPAVDRLCLGIPPG   1751 - 1820
ECFGLLGVNGAGKTSTFRMVTGDTLASRGEAVLAGHSVAREPSAAHLSMGYCPQSDAIFELLTGREHLEL   1821 - 1890
LARLRGVPEAQVAQTAGSGLARLGLSWYADRPAGTYSGGNKRKLATALALVGDPAVVFLDEPTTGMDPSA   1891 - 1960
RRFLWNSLLAVVREGRSVMLTSHSMEECEALCSRLAIMVNGRFRCLGSPQHLKGRFAAGHTLTLRVPAAR   1961 - 2030
SQPAAAFVAAEFPGAELREAHGGRLRFQLPPGGRCALARVFGELAVHGAEHGVEDFSVSQTMLEEVFLYF   2031 - 2100
SKDQGKDEDTEEQKEAGVGVDPAPGLQHPKRVSQFLDDPSTAETVL                           2101 - 2146
//

Text Mined References (49)

PMID Year Title
26654793 2015 Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.
26517904 2015 Understanding the function of ABCA7 in Alzheimer's disease.
26260791 2015 ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing.
26141617 2015 Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
25807283 2015 Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
25665932 2015 Preferential incorporation of shorter and less unsaturated acyl phospholipids into high density lipoprotein-like particles in the ABCA1- and ABCA7-mediated biogenesis with apoA-I.
25365775 2015 Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.
24908168 2014 ABCA7 gene and the risk of Alzheimer's disease in Han Chinese in Taiwan.
24743338 2014 Connecting the dots: potential of data integration to identify regulatory SNPs in late-onset Alzheimer's disease GWAS findings.
24643655 2014 Analyzing large-scale samples confirms the association between the ABCA7 rs3764650 polymorphism and Alzheimer's disease susceptibility.
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