Property Summary

NCBI Gene PubMed Count 48
PubMed Score 148.66
PubTator Score 87.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count
Disease Progression 125
Disease Target Count P-value
osteosarcoma 7933 4.50109274008324E-8
tuberculosis 1563 8.84423557146301E-6
malignant mesothelioma 3163 9.63009816064373E-6
glioblastoma 5572 8.75867116782276E-5
pediatric high grade glioma 2712 1.9179827107543E-4
Atopic dermatitis 944 3.16890913111827E-4
medulloblastoma, large-cell 6234 0.00126181190195282
psoriasis 6685 0.00247903239475187
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00587061197939502
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Alzheimer's disease 644 4.81 2.4
Disease Target Count Z-score Confidence
Amyloidosis 68 0.0 4.0
Neurodegenerative disease 383 0.0 4.0
Disease Target Count
Alzheimer disease 9 1

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

Synonym

Accession Q8IZY2 Q96S58 Q9BZC4 Q9NR73 Q9UKP8
Symbols AD9
ABCX
ABCA-SSN

Gene

  Ortholog (8)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG
Chicken OMA EggNOG

 CSPA Cell Line (3)

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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