Property Summary

NCBI Gene PubMed Count 21
PubMed Score 12.19
PubTator Score 12.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
lung carcinoma 2844 5.46591755175214E-23
ovarian cancer 8492 1.1277917593415E-13
Breast cancer 3099 1.37415006329212E-13
oligodendroglioma 2849 4.25467099938624E-11
acute quadriplegic myopathy 1157 2.46966863732351E-6
pediatric high grade glioma 2712 7.8416766391556E-5
Pick disease 1893 9.23424379537051E-5
pancreatic cancer 2300 1.94636838526795E-4
glioblastoma 5572 2.24031121408437E-4
psoriasis 6685 2.76354019332802E-4
ductal carcinoma in situ 1745 5.59743511260446E-4
astrocytic glioma 2241 0.00192663715978716
invasive ductal carcinoma 2950 0.00610688738791086
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00986879898260954
colon cancer 1475 0.0381922980156515
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma -2.200 0.002
psoriasis -1.600 0.000
oligodendroglioma -1.600 0.000
glioblastoma -2.000 0.000
acute quadriplegic myopathy 1.678 0.000
pancreatic ductal adenocarcinoma liver m... -1.408 0.010
colon cancer -1.100 0.038
pancreatic cancer -1.100 0.000
pediatric high grade glioma -1.600 0.000
Breast cancer -2.100 0.000
lung carcinoma 1.900 0.000
Pick disease -1.400 0.000
ductal carcinoma in situ -1.200 0.001
invasive ductal carcinoma -1.500 0.006
ovarian cancer -2.800 0.000

Synonym

Accession Q8WWZ7 Q8IVJ2 Q96LJ1 Q96MS4 Q96PZ9 Q9NY14
Symbols ABC13
EST90625

Gene

  Ortholog (11)

Gene RIF (14)

PMID Text
25125465 This report represents the first extensive expression and functional study of ABCA5 in the human brain and our data suggest a plausible function of ABCA5 in the brain as a cholesterol transporter associated with Abeta generation
24831815 our findings support ABCA5 as a gene underlying the congenital generalized hypertrichosis terminalis phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth.
23939407 The expression of ABCA5 was significantly elevated in parkinson disease brains compared to age- and gender-matched control brains.
22870217 Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
22190034 HIV-1 Vpr is identified to have a physical interaction with ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20487690 The ABCB5 gene may be related to the properties of chemoresistance and aggressiveness of melanoma
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)
More...

AA Sequence

MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEEVPNIELNPMD      1 - 70
KFTLSNLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSLSKPSNFVGVVFKDSMSYELR     71 - 140
FFPDMIPVSSIYMDSRAGCSKSCEAAQYWSSGFTVLQASIDAAIIQLKTNVSLWKELESTKAVIMGETAV    141 - 210
VEIDTFPRGVILIYLVIAFSPFGYFLAIHIVAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLL    211 - 280
MAVIATASLLFPQSSSIVIFLLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIES    281 - 350
FPKSLVWLFSPFCHCTFVIGIAQVMHLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQV    351 - 420
IPGEFGLRRSSLYFLKPSYWSKSKRNYEELSEGNVNGNISFSEIIEPVSSEFVGKEAIRISGIQKTYRKK    421 - 490
GENVEALRNLSFDIYEGQITALLGHSGTGKSTLMNILCGLCPPSDGFASIYGHRVSEIDEMFEARKMIGI    491 - 560
CPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLLDLDMQTIKDNQAKKLSGGQKRKLSLGIAVL    561 - 630
GNPKILLLDEPTAGMDPCSRHIVWNLLKYRKANRVTVFSTHFMDEADILADRKAVISQGMLKCVGSSMFL    631 - 700
KSKWGIGYRLSMYIDKYCATESLSSLVKQHIPGATLLQQNDQQLVYSLPFKDMDKFSGLFSALDSHSNLG    701 - 770
VISYGVSMTTLEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLILSETKAALVSTMSLW    771 - 840
KQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLYFLKPGDKPHK    841 - 910
YKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVMHSEKDYVFAAVFNSTMVYSL    911 - 980
PILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIELYFQAALLGIIVTAMPPYFAMENAENHKIK    981 - 1050
AYTQLKLSGLLPSAYWIGQAVVDIPLFFIILILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFT   1051 - 1120
YIASFTFKKILNTKEFWSFIYSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKIS   1121 - 1190
WKNVRKNVDTYNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPD   1191 - 1260
NEDEDEDVKAERLKVKELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYISFCVKKGEILG   1261 - 1330
LLGPNGAGKSTIINILVGDIEPTSGQVFLGDYSSETSEDDDSLKCMGYCPQINPLWPDTTLQEHFEIYGA   1331 - 1400
VKGMSASDMKEVISRITHALDLKEHLQKTVKKLPAGIKRKLCFALSMLGNPQITLLDEPSTGMDPKAKQH   1401 - 1470
MWRAIRTAFKNRKRAAILTTHYMEEAEAVCDRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIEN   1471 - 1540
LEVDRLQREIQYIFPNASRQESFSSILAYKIPKEDVQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFV   1541 - 1610
ELTKEQEEEDNSCGTLNSTLWWERTQEDRVVF                                         1611 - 1642
//

Text Mined References (21)

PMID Year Title
25125465 2015 ABCA5 regulates amyloid-? peptide production and is associated with Alzheimer's disease neuropathology.
24831815 2014 Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
23939407 2012 Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression.
22870217 2012 Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma.
20487690 2010 ATP-binding cassette transporter ABCB5 gene is expressed with variability in malignant melanoma.
20382126 2010 Macrophage ABCA5 deficiency influences cellular cholesterol efflux and increases susceptibility to atherosclerosis in female LDLr knockout mice.
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.
More...