Property Summary

NCBI Gene PubMed Count 645
Grant Count 1,155
R01 Count 694
Funding $137,053,349.51
PubMed Score 893.13
PubTator Score 4075.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (26)

Disease log2 FC p
pancreatic cancer 2.900 0.012
psoriasis 2.700 0.000
osteosarcoma 2.541 0.001
non diabetic and post-ischemic heart fai... -1.300 0.002
type II diabetes mellitus and post-ische... -1.100 0.023
atypical teratoid / rhabdoid tumor 1.200 0.001
glioblastoma 1.300 0.022
primary pancreatic ductal adenocarcinoma 3.000 0.013
non-small cell lung cancer -1.255 0.000
Hydrolethalus syndrome -1.427 0.022
lung cancer -4.600 0.000
sarcoidosis -1.300 0.048
cystic fibrosis 1.200 0.002
lung adenocarcinoma -1.400 0.000
group 4 medulloblastoma -1.300 0.002
primary Sjogren syndrome -1.700 0.001
pancreatic carcinoma 1.100 0.009
invasive ductal carcinoma -1.788 0.006
lung carcinoma -3.000 0.000
spina bifida -2.250 0.040
ductal carcinoma in situ 1.200 0.025
ulcerative colitis 1.500 0.002
ovarian cancer 1.100 0.041
Breast cancer 1.200 0.000
Gaucher disease type 1 -1.700 0.028
chronic rhinosinusitis -1.880 0.015

Gene

PDB

2M7P   1AJJ   1D2J   1F5Y   1F8Z   1HJ7   1HZ8   1I0U   1IJQ   1LDL   1LDR   1LRX   1N7D   1XFE   2FCW   2KRI   2LGP   2MG9   2W2M   2W2N   2W2O   2W2P   2W2Q   3BPS   3GCW   3GCX   3M0C   3P5B   3P5C   3SO6   4NE9  

Gene RIF (548)

PMID Text
27015087 Three polymorphisms in the 3' UTR region of LDLR, c.*52G>A, c.*504G>A, and c.*773A>G, and two at the 5' UTR region of PCSK9, c.-3383C>G and c.-2063A>G, were associated with response to Armolipid Plus
26892126 genetic confirmation of ADH may be important to identify patient's risk of CHD, especially for female LDLR mutation carriers
26820623 LDLR gene is a new susceptibility gene associated with the development of thrombosis in antiphospholipid antibodies carriers.
26721317 de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia
26719329 Data suggest inducible expression of IDOL is subject to robust, rapid regulation by process that is sensitive to deubiquitinase inhibition in human/mouse cell lines and primary human cells; transcriptional induction of IDOL leads to degradation of LDLR.
26688439 A recurrent frameshift mutation in LDLR gene causing familial hypercholesterolemia was identified in 9 probands and their relatives.
26666640 Identify USP2 as a novel regulator of lipoprotein clearance owing to its ability to control ubiquitylation-dependent degradation of the LDLR by IDOL.
26608663 This study aimed to perform a systematic review of LDLR mutations in China.
26601593 Specifically, loss of IDOL increases LDLR distribution in the hepatic cell, and subsequently reduces serum LDL-C levels in dyslipidemic patients.
26526611 Mg(++), at high concentration in the endosome, favors the formation of the closed conformation by replacing the structuring effect of Ca(++) in LR5
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AA Sequence

MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKS      1 - 70
GDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDE     71 - 140
ASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECI    141 - 210
HSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPN    211 - 280
KFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQR    281 - 350
RCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYT    351 - 420
SLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYW    421 - 490
TDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENI    491 - 560
QWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFS    561 - 630
ANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPD    631 - 700
GMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQ    701 - 770
ALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICH    771 - 840
NQDGYSYPSRQMVSLEDDVA                                                      841 - 860
//

Text Mined References (660)

PMID Year Title
27015087 2016 Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.
26892126 Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations.
26820623 2016 LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.
26721317 2016 A de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia identified using whole exome sequencing.
26719329 2016 Deubiquitylase Inhibition Reveals Liver X Receptor-independent Transcriptional Regulation of the E3 Ubiquitin Ligase IDOL and Lipoprotein Uptake.
26688439 2016 Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.
26666640 2016 The Deubiquitylase USP2 Regulates the LDLR Pathway by Counteracting the E3-Ubiquitin Ligase IDOL.
26608663 2015 The distribution and characteristics of LDL receptor mutations in China: A systematic review.
26601593 2016 IDOL, inducible degrader of low-density lipoprotein receptor, serves as a potential therapeutic target for dyslipidemia.
26526611 2015 The closed conformation of the LDL receptor is destabilized by the low Ca(++) concentration but favored by the high Mg(++) concentration in the endosome.
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