GNE

GENE INFORMATION

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Gene name

GNE (HGNC Symbol)

Synonyms

IBM2, Uae1

Description

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

9

Cytoband

p13.3

Chromosome location (bp)

36214438 - 36277053

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000159921 (version 75.37)

Entrez gene

10020

UniProt

Q9Y223 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y223

Antibodypedia

GNE antibodies
 

PROTEIN VIEW

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GNE-001
 
GNE-002
 
GNE-003
 
GNE-004
 
GNE-005
 
GNE-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GNE-001 ENSP00000367134
ENST00000377902
Q9Y223
Show all »
Show » Show » 722 79.3 No 1
GNE-002 ENSP00000445117
ENST00000539208
Q9Y223
Show all »
Show » Show » 612 66.8 No 0
GNE-003 ENSP00000379839
ENST00000396594
Q9Y223
Show all »
Show » Show » 753 83.1 No 1
GNE-004 ENSP00000437765
ENST00000543356
H0YFA7
Show all »
Show » Show » 717 78.6 No 1
GNE-005 ENSP00000414760
ENST00000447283
Q9Y223
Show all »
Show » Show » 648 71.3 No 1
GNE-201 ENSP00000439155
ENST00000539815
Q9Y223
Show all »
Show » Show » 722 79.3 No 1