Property Summary

NCBI Gene PubMed Count 48
Grant Count 46
R01 Count 23
Funding $7,684,938.9
PubMed Score 479.46
PubTator Score 156.15

Knowledge Summary

Patent

No data available

Expression

Gene RIF (24)

PMID Text
26975021 AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth.
26252094 Point mutations in AGL gene are associated with glycogen storage disease type IIIa in a Chinese family.
25827695 Haplotype analysis revealed that the mutation arises as a result of founder effect, not an independent event.
25602008 A homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in Inuit children determines the cause of glycogen storage disease type IIIa and confirms a founder effect.
25451950 AGL haplotype analyses suggested that c.1019delA and c.958+1G>A are founder mutations in Turkish patients, while p.R864X is a recurrent mutation.
24257475 study identified 10 different mutations in 8 Korean Glycogen storage disease type III patients; 5 mutations are novel and include 1 nonsense (c.1461G>A, p.W487X), 3 splicing (c.293+4_293+6delAGT in IVS4, c.460+1G>T in IVS5, c.2682-8A>G in IVS21) and 1 missense mutation (c.2591G>C, p.R864P)
23882694 We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B.
23649758 Characterization of a novel homozygous single point mutation at the polypyrimidine tract of intron 21 of the AGL gene in two consanguineous siblings with glycogen storage disease type III.
22035446 A founder effect discovered amongst Tunisian patients with glycogen storage disease type III and a c.3216_3217delGA mutation in the AGL gene.
20800603 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENP      1 - 70
TEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPF     71 - 140
DEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNV    141 - 210
ICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHH    211 - 280
MNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDM    281 - 350
NIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVT    351 - 420
RKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDS    421 - 490
VKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGS    491 - 560
EDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNEC    561 - 630
PIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA    631 - 700
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPG    701 - 770
KIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENL    771 - 840
SPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYR    841 - 910
CESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGT    911 - 980
IAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGV    981 - 1050
GKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEA   1051 - 1120
RNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAP   1121 - 1190
LPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWM   1191 - 1260
DKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRK   1261 - 1330
IQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA   1331 - 1400
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMG   1401 - 1470
PETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL           1471 - 1532
//

Text Mined References (50)

PMID Year Title
26975021 2016 Metabolic phenotype of bladder cancer.
26252094 2015 [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
25827695 A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
25602008 2015 A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
25451950 2015 Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
24837458 2014 The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24257475 2014 A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
23882694 2013 Anti-retinal antibodies in patients with macular telangiectasia type 2.
23649758 2013 Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
More...