Property Summary

NCBI Gene PubMed Count 39
PubMed Score 519.70
PubTator Score 12.28

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Acquired metabolic disease 267 0.0 1.0
Disease Target Count Z-score Confidence
Congenital muscular dystrophy 25 0.0 4.0
Lissencephaly 61 0.0 4.0
Disease Target Count Z-score Confidence
Muscular dystrophy 48 3.508 1.8

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 4.300 4.1e-08
posterior fossa group A ependymoma -1.900 1.6e-13
cutaneous lupus erythematosus -1.100 4.5e-03
psoriasis -2.500 1.8e-05
glioblastoma -1.600 5.3e-07
osteosarcoma -1.332 4.6e-05
medulloblastoma -1.600 5.0e-06
atypical teratoid / rhabdoid tumor -1.800 2.2e-05
medulloblastoma, large-cell -1.700 1.3e-05
primitive neuroectodermal tumor -1.300 2.7e-05
Hydrolethalus syndrome -1.311 3.9e-02
lung cancer -2.100 2.6e-03
colon cancer -1.400 4.8e-02
adult high grade glioma -1.300 3.2e-04

Gene RIF (19)

PMID Text
25279699 A glucuronic acid beta1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide.
25279697 B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan.
24709677 A homozygous LARGE mutation at Cys443 is identified in patients with dystroglycanopathies, whereas the mutation p.Glu509Lys in this study may confer a milder phenotype.
24629698 results suggest absent alpha-DG expression & LARGE deregulation closely associated w/ nodal metastasis tongue cancer. Aberrant alpha-DG expression & glycosylation attributed to abnormal epigenetic modification of LARGE; hypermethylation of its promoter.
24132234 results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold, the extension of which is required for normal skeletal muscle function
23705025 This study suggests LARGE as the first known modifier of plasma antithrombin.
22223806 LARGE could act as a bifunctional glycosyltransferase, with xylosyltransferase and glucuronyltransferase activities, which produced repeating units of [-3-xylose-alpha1,3-glucuronic acid-beta1-]; allowed alpha-DG to bind laminin-G domain-containing ECM ligands
21987822 the ligand-binding activity of alpha-dystroglycan is conferred primarily by LARGE modification at Thr-317 and -319, within the highly conserved first 18 amino acids of the mucin-like domain
21727005 This study demonistreated that Intragenic rearrangements in LARGE gene in muscle-eye-brain disease.
21248746 This report extends our knowledge of the clinical phenotype associated with LARGE, and is the second family in which disease results from a large-scale gene rearrangement.
21203384 LARGE has a role in inducing alpha-dystroglycan hyperglycosylation in skeletal and cardiac muscle
20800603 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19299310 Observational study of gene-disease association. (HuGE Navigator)
19244252 LARGE repression is responsible for the defects in dystroglycan-mediated cell adhesion that are observed in epithelium-derived cancer cells and point to a defect of dystroglycan glycosylation as a factor in cancer progression
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17878207 Observational study of genotype prevalence. (HuGE Navigator)
15752776 LARGE2 was found to support the maturation of alpha-dystroglycan more effectively than LARGE.

AA Sequence

MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMR      1 - 70
EVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHV     71 - 140
AIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSW    141 - 210
IPNKHYSGIYGLMKLVLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGN    211 - 280
LWKNHRPWPALGRGYNTGVILLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVY    281 - 350
QLPCFWNVQLSDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP    351 - 420
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEA    421 - 490
ICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMF    491 - 560
LSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETLRYRLSFPKSKAELLSMLDMGTLFTFRYHVW    561 - 630
TKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPN    631 - 700
AYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS                  701 - 756
//

Text Mined References (40)

PMID Year Title
25279699 2014 The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated ?-dystroglycan functional glycosylation.
25279697 2014 B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of ?-dystroglycan.
25138275 2014 Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of ?-dystroglycan in cells and tissues.
24962325 2014 Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24709677 2014 Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
24629698 2014 Correlation of deregulated like-acetylglucosaminyl transferase and aberrant ?-dystroglycan expression with human tongue cancer metastasis.
24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
24132234 2013 LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
23705025 2013 Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22223806 2012 Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.
21987822 2011 Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.
21727005 2011 Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.
21248746 2011 Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
21203384 2010 Transgenic overexpression of LARGE induces ?-dystroglycan hyperglycosylation in skeletal and cardiac muscle.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19587235 2009 Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.
19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
19244252 2009 Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE.
19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
17436019 2007 Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
15958417 2005 Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.
15752776 2005 LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.
15661757 2005 Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15210115 2004 Molecular recognition by LARGE is essential for expression of functional dystroglycan.
15184894 2004 LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
12966029 2003 Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12140558 2002 Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
10591208 1999 The DNA sequence of human chromosome 22.
9892679 1999 The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.
9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.