Property Summary

NCBI Gene PubMed Count 89
Grant Count 54
R01 Count 27
Funding $16,979,958.48
PubMed Score 263.62
PubTator Score 211.78

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9Y223 A6PZH2 A6PZH3 A7UNU7 B2R6E1 B7Z372 B7Z428 D3DRP7 F5H499 H0YFA7 Q0VA94
Symbols NM
DMRV
IBM2
Uae1
GLCNE

Gene

GNE

PANTHER Protein Class (3)

PDB

2YHW   2YHY   2YI1   3EO3   4ZHT  

Gene RIF (57)

PMID Text
25986339 Novel GNE mutations were linked to GNE myopathy in patients from mainland China.
25966635 This study confirms that c.2228T>C (p.M743T) is the most prevalent disease-causing variant in the non-Jewish Persian population, but other GNE variants can cause GNE myopathy in this population.
25510413 examined the consequences of the mutated GNEM743T enzyme in myoblasts cultures, depicted by the pattern of central signaling proteins of the PI3K/AKT, BCL2 and ARTS/XIAP pathways
25002140 GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities--{REVIEW}
24796702 Multiple GNE mutations are associated with GNE myopathy.
24685570 NCBI GenBank accession numbers for the two major isoforms hGNE1 and hGNE2 and their ENSEMBL IDs, as well as discussion of nomenclature changes
24474513 mutation in UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) affects beta1-integrin-mediated cell adhesion process in GNE mutant cells
24027297 we report the mutation profile of the GNE gene in 212 Japanese GNE myopathy patients, which is the largest single-ethnic cohort for this ultra-orphan disease
24005727 The results of this study showed the presence of a common mutation in GNE gene in patient with myopathy in India.
23842869 GNE is a master regulator of sialic acid synthesis in the vertebrates. (Review)
More...

AA Sequence

MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRMIEQDDFDINT      1 - 70
RLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSG     71 - 140
TIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDVK    141 - 210
SKDYIVALQHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVK    211 - 280
HVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQ    281 - 350
FGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR    351 - 420
VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTK    421 - 490
LIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGS    491 - 560
SFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQA    561 - 630
AKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSD    631 - 700
LVDPALLGAASMVLDYTTRRIY                                                    701 - 722
//

Text Mined References (90)

PMID Year Title
25986339 2015 Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
25966635 2016 Genetics of GNE myopathy in the non-Jewish Persian population.
25510413 2015 Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts.
25416956 2014 A proteome-scale map of the human interactome network.
25002140 2015 GNE myopathy: current update and future therapy.
24796702 2014 Mutation update for GNE gene variants associated with GNE myopathy.
24685570 2014 GNE myopathy: new name and new mutation nomenclature.
24474513 2014 Role of UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) in ?1-integrin-mediated cell adhesion.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24027297 2014 Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
More...