Property Summary

NCBI Gene PubMed Count 16
Grant Count 1
Funding $905,776
PubMed Score 4.19
PubTator Score 5.13

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
chronic lymphosyte leukemia 2.900 0.000
malignant mesothelioma -5.700 0.000
psoriasis -1.200 0.001
osteosarcoma -2.098 0.046
Atopic dermatitis -1.500 0.001
adrenocortical carcinoma -1.266 0.000
pancreatic ductal adenocarcinoma liver m... -1.637 0.007
non-small cell lung carcinoma -1.500 0.000
lung cancer -3.900 0.000
colon cancer -3.000 0.000
breast carcinoma -1.800 0.000
fibroadenoma -2.000 0.003
Breast cancer -3.100 0.025
lung adenocarcinoma -2.500 0.000
invasive ductal carcinoma -3.700 0.000
lung carcinoma -1.800 0.000
mucosa-associated lymphoid tissue lympho... 1.146 0.017
ductal carcinoma in situ -2.800 0.000

Synonym

Accession Q8N139 Q6NSH9 Q8N856 Q8WWZ6
Symbols EST155051

Gene

 Grant Application (1)

Gene RIF (9)

PMID Text
25751400 A rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), found in a Dutch population, is predicted to be deleterious with respect to blood cholesterol levels.
25294155 Results suggest a possible role for multidrug resistance genes ABCA10 and ABCA6 in follicular lymphoma survival and add to the evidence that genetic variation in CD46 and IL8 may have prognostic implications follicular lymphoma.
24028821 These data provide evidence for an essential role of FoxO proteins in the transcription of ABCA6 in human vascular endothelial cells.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MNMKQKSVYQQTKALLCKNFLKKWRMKRESLLEWGLSILLGLCIALFSSSMRNVQFPGMAPQNLGRVDKF      1 - 70
NSSSLMVVYTPISNLTQQIMNKTALAPLLKGTSVIGAPNKTHMDEILLENLPYAMGIIFNETFSYKLIFF     71 - 140
QGYNSPLWKEDFSAHCWDGYGEFSCTLTKYWNRGFVALQTAINTAIIEITTNHPVMEELMSVTAITMKTL    141 - 210
PFITKNLLHNEMFILFFLLHFSPLVYFISLNVTKERKKSKNLMKMMGLQDSAFWLSWGLIYAGFIFIISI    211 - 280
FVTIIITFTQIIVMTGFMVIFILFFLYGLSLVALVFLMSVLLKKAVLTNLVVFLLTLFWGCLGFTVFYEQ    281 - 350
LPSSLEWILNICSPFAFTTGMIQIIKLDYNLNGVIFPDPSGDSYTMIATFSMLLLDGLIYLLLALYFDKI    351 - 420
LPYGDERHYSPLFFLNSSSCFQHQRTNAKVIEKEIDAEHPSDDYFEPVAPEFQGKEAIRIRNVKKEYKGK    421 - 490
SGKVEALKGLLFDIYEGQITAILGHSGAGKSSLLNILNGLSVPTEGSVTIYNKNLSEMQDLEEIRKITGV    491 - 560
CPQFNVQFDILTVKENLSLFAKIKGIHLKEVEQEVQRILLELDMQNIQDNLAKHLSEGQKRKLTFGITIL    561 - 630
GDPQILLLDEPTTGLDPFSRDQVWSLLRERRADHVILFSTQSMDEADILADRKVIMSNGRLKCAGSSMFL    631 - 700
KRRWGLGYHLSLHRNEICNPEQITSFITHHIPDAKLKTENKEKLVYTLPLERTNTFPDLFSDLDKCSDQG    701 - 770
VTGYDISMSTLNEVFMKLEGQSTIEQDFEQVEMIRDSESLNEMELAHSSFSEMQTAVSDMGLWRMQVFAM    771 - 840
ARLRFLKLKRQTKVLLTLLLVFGIAIFPLIVENIMYAMLNEKIDWEFKNELYFLSPGQLPQEPRTSLLII    841 - 910
NNTESNIEDFIKSLKHQNILLEVDDFENRNGTDGLSYNGAIIVSGKQKDYRFSVVCNTKRLHCFPILMNI    911 - 980
ISNGLLQMFNHTQHIRIESSPFPLSHIGLWTGLPDGSFFLFLVLCSISPYITMGSISDYKKNAKSQLWIS    981 - 1050
GLYTSAYWCGQALVDVSFFILILLLMYLIFYIENMQYLLITSQIVFALVIVTPGYAASLVFFIYMISFIF   1051 - 1120
RKRRKNSGLWSFYFFFASTIMFSITLINHFDLSILITTMVLVPSYTLLGFKTFLEVRDQEHYREFPEANF   1121 - 1190
ELSATDFLVCFIPYFQTLLFVFVLRCMELKCGKKRMRKDPVFRISPQSRDAKPNPEEPIDEDEDIQTERI   1191 - 1260
RTATALTTSILDEKPVIIASCLHKEYAGQKKSCFSKRKKKIAARNISFCVQEGEILGLLGPNGAGKSSSI   1261 - 1330
RMISGITKPTAGEVELKGCSSVLGHLGYCPQENVLWPMLTLREHLEVYAAVKGLRKADARLAIARLVSAF   1331 - 1400
KLHEQLNVPVQKLTAGITRKLCFVLSLLGNSPVLLLDEPSTGIDPTGQQQMWQAIQAVVKNTERGVLLTT   1401 - 1470
HNLAEAEALCDRVAIMVSGRLRCIGSIQHLKNKLGKDYILELKVKETSQVTLVHTEILKLFPQAAGQERY   1471 - 1540
SSLLTYKLPVADVYPLSQTFHKLEAVKHNFNLEEYSLSQCTLEKVFLELSKEQEVGNFDEEIDTTMRWKL   1541 - 1610
LPHSDEP                                                                  1611 - 1617
//

Text Mined References (18)

PMID Year Title
25751400 2015 Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
25294155 2014 A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24028821 2013 FoxO regulates expression of ABCA6, an intracellular ATP-binding-cassette transporter responsive to cholesterol.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
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