GNE

GENERAL INFORMATION

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Gene name

GNE

Gene description

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

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues at variable levels. Most abundant in gastrointestinal tract.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA007045 , HPA027258
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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)

36214441 - 36277056

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000159921 (version 78.38)

Entrez gene

10020

UniProt

Q9Y223 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y223

Antibodypedia

GNE antibodies


PROTEIN BROWSER

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ENST00000377902
 
ENST00000396594
 
ENST00000447283
 
ENST00000539208
 
ENST00000539815
 
ENST00000543356
 
 
 
 


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
Q9Y223
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