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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GNE Gene

protein-coding GIFtS: 62
GCID: GC09M036204

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine...

(Previous name: UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine...)
(Previous symbol: IBM2)

Explore 25 diseases affiliated with
GNE via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase¹ ²		DMRV² ⁵
IBM2¹ ² ⁵		NM² ⁵
GLCNE² ³ ⁵		Bifunctional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase²
Uae1¹ ²		N-Acylmannosamine Kinase²
UDP-N-Acetylglucosamine-2-Epimerase/N-Acetylmannosamine Kinase¹ ²		UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase²
UDP-GlcNAc-2-Epimerase/ManAc Kinase² ³

External Ids:	HGNC: 23657¹	Entrez Gene: 10020²	Ensembl: ENSG00000159921⁷	OMIM: 603824⁵	UniProtKB: Q9Y223³

Export aliases for GNE gene to outside databases

Previous GC identifers: GC09M036526 GC09M036383

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GNE:

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)

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223

Function: Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays

an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells.

Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant

cells

Gene Wiki entry for GNE

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GNE gene promoter:
CREB Sp1 deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GNE promoter sequence

Search SABiosciences Chromatin IP Primers for GNE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13.3 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p13.1

GNE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNE gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M036204: view genomic region (about GC identifiers)

Start:	36,214,438 bp from pter	End:	36,277,053 bp from pter
Size:	62,616 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223 (See protein sequence)

Recommended Name: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Size: 722 amino acids; 79275 Da

Subunit: Homodimer and homohexamer

Subcellular location: Cytoplasm (By similarity)

4 PDB 3D structures from and Proteopedia for GNE:

2YHW (3D)

2YHY (3D)

2YI1 (3D)

3EO3 (3D)

Secondary accessions: A6PZH2 A6PZH3 A7UNU7 B2R6E1 B7Z372 D3DRP7 F5H499 Q0VA94

Alternative splicing: 5 isoforms: Q9Y223-1 Q9Y223-2 Q9Y223-3 Q9Y223-4 Q9Y223-5

Explore the universe of human proteins at neXtProt for GNE: NX_Q9Y223

Post-translational modifications:

Phosphorylated by PKC (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y223

GNE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001121699.1 NP_001177312.1 NP_001177313.1 NP_001177317.1 NP_005467.1

ENSEMBL proteins:

ENSP00000367134 ENSP00000379839 ENSP00000437765 ENSP00000445117 ENSP00000414760

ENSP00000340770 ENSP00000439155

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	Uscn Proteins for GNE

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	TAS	9305888
GO:0005829	cytosol	IEA	--

GNE for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for GNE

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GNE for domains About GeneDecksing

4 InterPro domains/families:

IPR003331 UDP_GlcNAc_Epimerase_2

IPR001312 Hexokinase

IPR000600 ROK

IPR020004 UDP-GlcNAc_Epase

Graphical View of Domain Structure for InterPro Entry Q9Y223

ProtoNet protein and cluster: Q9Y223

2 Blocks protein families:

IPB000600 ROK family

IPB003331 UDP-N-acetylglucosamine 2-epimerase

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223

Similarity: In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family

Similarity: In the C-terminal section; belongs to the ROK (NagC/XylR) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223

Function: Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays

an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells.

Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant

cells

Catalytic activity: UDP-N-acetyl-alpha-D-glucosamine + H(2)O = N-acetyl-D-mannosamine + UDP

Catalytic activity: ATP + N-acyl-D-mannosamine = ADP + N-acyl-D-mannosamine 6-phosphate

Enzyme regulation: Allosterically regulated (Probable); feedback inhibited by cytidine monophosphate-N-acetylneuraminic

acid (CMP-Neu5Ac), the end product of neuraminic acid biosynthesis. Activity is dependent on oligomerization. The

monomer is inactive, whereas the dimer catalyzes only the phosphorylation of N-acetylmannosamine; the hexamer is fully

active for both enzyme activities (By similarity). Up-regulated after PKC-dependent phosphorylation

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNE

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--
GO:0008761	UDP-N-acetylglucosamine 2-epimerase activity	IEA	--
GO:0009384	N-acylmannosamine kinase activity	IEA	--
GO:0016773	phosphotransferase activity, alcohol group as acceptor	--	--
GO:0016787	hydrolase activity	IEA	--

GNE for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for GNE:

Decreased telomerase activity

Decreased viability

Animal Models:
Mouse knock-outs for GNE: Gne^tm1Sngi Gne^tm1Rhk
8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Gne):

behavior/neurological	cardiovascular system	growth/size	homeostasis/metabolism	immune system
mortality/aging	muscle	renal/urinary system

GNE for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Amino sugar and nucleotide sugar metabolism

Amino sugar and nucleotide sugar metabolism

1.00

CMP-N-acetylneuraminate biosynthesis I (eukaryotes)

CMP-N-acetylneuraminate biosynthesis I (eukaryotes)

1.00

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for GNE

CMP-N-acetylneuraminate biosynthesis I (eukaryotes)

2 Kegg Pathways (Kegg details for GNE):

	Amino sugar and nucleotide sugar metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223

Pathway: Amino-sugar metabolism; N-acetylneuraminate biosynthesis

GNE for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GNE

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/14 Interacting proteins for GNE (Q9Y223³ ENSP00000379839⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CRMP1	Q14194³, ENSP00000321606⁴	I2D: score=1 STRING: ENSP00000321606
RIF1	Q5UIP0³, ENSP00000243326⁴	I2D: score=1 STRING: ENSP00000243326
KIAA1549	Q9HCM3³, ENSP00000242365⁴	I2D: score=1 STRING: ENSP00000242365
ZBTB16	Q05516³, ENSP00000338157⁴	I2D: score=1 STRING: ENSP00000338157
PIK3C2A	O00443³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006045	N-acetylglucosamine biosynthetic process	IEA	--
GO:0006047	UDP-N-acetylglucosamine metabolic process	IEA	--
GO:0006054	N-acetylneuraminate metabolic process	TAS	9305888
GO:0007155	cell adhesion	TAS	10334995
GO:0009103	lipopolysaccharide biosynthetic process	IEA	--

GNE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GNE for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for GNE

Browse Tocris compounds for GNE

10/11 HMDB Compounds for GNE (see all 11) About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Cytidine	1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)	65-46-3	--
N-Acetyl-D-glucosamine	2-(acetylamino)-2-deoxyhexose (see all 9)	7512-17-6	--
N-Acetyl-D-mannosamine 6-phosphate	ManNAc-6-P (see all 6)	873185-52-5	--
N-Acetylmannosamine	2-Acetamido-2-deoxy-D-mannose (see all 3)	3615-17-6	--
N-Acetylneuraminic acid	Sialic acid (see all 55)	131-48-6	--
Neuraminic acid	5-(acetylamino)-3,5-dideoxy-beta-L-erythro-2-nonulopyranosonate (see all 5)	114-04-5	--
Uridine 5'-diphosphate	5'-UDP (see all 9)	58-98-0	--
Uridine diphosphate-N-acetylglucosamine	N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)	528-04-1	--

9 Novoseek chemical compound relationships for GNE gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
udp-n-acetylglucosamine	97.4	130	15147877 (3), 19845164 (2), 18815882 (2), 15469965 (2) (see all 56)
sialic acid	88.9	95	19426133 (4), 16137682 (3), 18628673 (3), 16550921 (2) (see all 44)
cmp-n-acetylneuraminate	83.6	1	10330343 (1)
n-acetylglucosamine	51	8	11308027 (2), 8439453 (1), 1312935 (1), 10824116 (1) (see all 5)
glucosamine	38.1	1	20054407 (1)
cytidine	27.3	1	2019577 (1)
uridine	24.8	1	11956597 (1)
ganglioside	19.1	3	17284758 (1), 16847058 (1)
zinc	0	3	17118363 (2)

Search CenterWatch for drugs/clinical trials and news about GNE / GLCNE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GNE gene (5 alternative transcripts):

NM_001128227.2 NM_001190383.1 NM_001190384.1 NM_001190388.1 NM_005476.5

Unigene Cluster for GNE:

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

Hs.5920 [show with all ESTs]

Unigene Representative Sequence: NM_005476

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000377902(uc010mlh.3 uc010mlg.3 uc011lpl.2) ENST00000396594(uc010mli.3 uc010mlj.3)

ENST00000543356 ENST00000539208 ENST00000447283 ENST00000339267 ENST00000539815

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		SwitchGear 3'UTR luciferase reporter plasmid: GNE 3' UTR sequence

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Additional cDNA sequence:

AF051852.1 AF155663.1 AJ238764.1 AK295562.1 AK296687.1 AK299488.1 AK312539.1 AM697708.1

AM697709.1 AY531126.1 AY531127.1 AY531128.1 BC121179.2 EU093084.1

12 DOTS entries:

DT.95363776 DT.121169284 DT.100689242 DT.214146 DT.91711536 DT.100710379 DT.121169297 DT.214147

DT.95187946 DT.91679302 DT.91680309 DT.95171363

24/88 AceView cDNA sequences (see all 88):

BX951244 AI611253 AW026581 AA902332 AA669485 BF197948 AI472303 AA975828

AI367161 AA830608 CR621697 H98589 NM_005476 AI863421 AF155663 AI079296

BM918330 BQ028222 AA598417 BM999446 AL578503 AL556196 CA503236 H97553

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for GNE About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	·	3c	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12
SP1:
SP2:
SP3:					-

ECgene alternative splicing isoforms for GNE

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GNE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAATTTATT

About this image
See GNE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GNE

SOURCE GeneReport for Unigene cluster: Hs.5920

UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223

Tissue specificity: Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle

and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle

and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon.

Isoform 3 is expressed at low level in kidney, liver, placenta and colon

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for GNE gene from 6/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gne^{1 , 5}	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine more^{1, 5}	87.16(n)¹ 97.08(a)¹		4 (23.10 cM)⁵ 50798¹ NM_015828.3¹ NP_056643.3¹ 44034075⁵
chicken (Gallus gallus)	Aves	GNE¹	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine more	80.56(n) 92.09(a)		427285 NM_001031432.2 NP_001026603.2
lizard (Anolis carolinensis)	Reptilia	GNE⁶	--	89(a)	1 ↔ 1	GL343201.1(2285999-2311048)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.9677²	Transcribed sequence with moderate similarity to protein more	75.67(n)		137718480
zebrafish (Danio rerio)	Actinopterygii	zgc77657²	hypothetical protein MGC77657	73.74(n)		393857 BC063958.1
E. coli (Escherichia coli)	Gamma proteobacteria	nanK⁶ mak⁶ (see all 6)	manno(fructo)kinase (see all 6)	24(a) 23(a) (see all 6)	many → 1 many → 1 (see all 6)	Chromosome(3367497-3368372) Chromosome(409368-410276)

ENSEMBL Gene Tree for GNE (if available)
TreeFam Gene Tree for GNE (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28937594^1,2	C	pathogenic	36217396(-)	`CAGCAT/CGGTTC`	10	/T /M	mis¹		2		NA	4
rs121908627^1,2	C,F,	pathogenic	36217445(-)	`TGGATA/G/TTGGTG`	15	M V L	mis¹		2		NA EU	5871
rs62541771^1,2	C	pathogenic	36218221(+)	`GTTTCA/GCAGCT`	10	A V	mis¹		0	--	--	--	--
rs121908632^1,2	C,	pathogenic	36219937(-)	`TTGTTC/GTGTCT`	10	L V	mis¹		0	--	--	--	--
rs121908622^1,2	C	pathogenic	36234102(-)	`GATGCA/GGAAGA`	10	Q R	mis¹		0	--	--	--	--
rs121908621^1,2	C	pathogenic	36234103(-)	`TGATGC/TGGAAG`	10	R W	mis¹		0	--	--	--	--
rs121908623^1,2	C	pathogenic	36234111(-)	`GGTTCG/TAGTGA`	10	R L	mis¹		0	--	--	--	--
rs185182442^1,2		--	36214126(+)	`ACCATC/GCCTGG`	5	--	ds500¹		0	--	--	--	--
rs115106207^1,2		--	36214388(+)	`GGGAAG/AGAAAA`	5	--	ds500¹		1		WA	118
rs140396892^1,2		--	36214573(+)	`CCTTCC/TCATGA`	5	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GNE (36214438 - 36277053 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GNE
1 CNV: 47924
1 Indel: 29159
Human Gene Mutation Database (HGMD): GNE

Locus Specific Mutation Databases (LSDB): GNE

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GNE

DNA2.0 Custom Variant and Variant Library Synthesis for GNE

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GNE for disorders           About GeneDecksing

OMIM gene information: 603824
OMIM disorders: 269921  600737  605820
UniProtKB/Swiss-Prot: GLCNE_HUMAN, Q9Y223

Defects in GNE are a cause of sialuria (SIALURIA) [MIM:269921]; also known as sialuria French type. In

sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the

urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in

constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse

facial features and hepatomegaly. Sialuria inheritance is autosomal dominant

Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2) [MIM:600737]. Hereditary inclusion body

myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal

weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal

recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also

observed in Nonaka myopathy

Defects in GNE are the cause of Nonaka myopathy (NM) [MIM:605820]; also known as distal myopathy with rimmed

vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is

characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of

the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous

rimmed vacuoles without inflammatory changes in muscle specimens

20/25 diseases for GNE (see all 25): About MalaCards

inclusion body myopathy nonaka myopathy sialuria myopathy

inclusion body myopathy with paget disease of bone and/or frontotemporal dementia muscular dystrophy with rimmed vacuoles limb-girdle muscular dystrophy sialuria, french type

inclusion body myopathy 2 focal segmental glomerulosclerosis muscular dystrophy frontotemporal dementia

paget's disease of bone vacuolar myopathy type 2 diabetes mellitus neuromuscular disease

diabetes mellitus glomerulosclerosis burkitt's lymphoma dementia

3 diseases from the University of Copenhagen DISEASES database for GNE:

Sialuria Myopathy Neuropathy

9 Novoseek disease relationships for GNE gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inclusion body myopathy	98.4	62	14678807 (2), 17704511 (2), 15147877 (2), 15987957 (1) (see all 40)
distal myopathies	96.4	57	19845164 (2), 17704511 (2), 15136692 (2), 17164266 (2) (see all 23)
nonaka myopathy	95	11	11916006 (4), 15034479 (1), 18555875 (1), 19841673 (1) (see all 5)
myopathy	78.7	25	12811782 (2), 12497639 (1), 15034479 (1), 19838336 (1) (see all 17)
sialic acid storage disease	74.7	1	12450772 (1)
neuromuscular diseases	62.5	8	11916006 (1), 18560563 (1), 15147877 (1), 15670773 (1) (see all 5)
muscular dystrophies	53.8	1	14972325 (1)
inflammation	0	2	14678807 (1), 12913203 (1)
cancer	0	1	15748884 (1)

GeneTests: GNE

Sialuria

Inclusion Body Myopathy 2

Human Genome Epidemiology (HuGE) Navigator: GNE (1 document)

Export disorders for GNE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GNE gene, integrated from 9 sources (see all 146):
(articles sorted by number of sources associating them with GNE)

Utopia: connect your pdf to the dynamic
world of online information

Nonaka myopathy is caused by mutations in the UDP-N- acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). (PubMed id 11916006)^{1, 2, 9} Kayashima T.... Kishino T. (2002)
Crystal structure of the N-acetylmannosamine kinase d omain of GNE. (PubMed id 19841673)^{1, 2, 9} Tong Y....Park H.W. (2009)
Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). (PubMed id 12409274)^{1, 2, 9} Darvish D.... Huo Y. (2002)
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. (PubMed id 15146476)^{1, 2, 9} Broccolini A.... Mirabella M. (2004)
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. (PubMed id 12497639)^{1, 2, 9} Eisenberg I.... Mitrani-Rosenbaum S. (2003)
Novel missense mutation and large deletion of GNE gene in autosomal- recessive inclusion-body myopathy. (PubMed id 12811782)^{1, 2, 9} Del Bo R.... Comi G.P. (2003)
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. (PubMed id 12325084)^{1, 2, 9} Arai A.... Tsuji S. (2002)
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (PubMed id 12473753)^{1, 2, 9} Nishino I.... Nonaka I. (2002)
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. (PubMed id 11528398)^{1, 2, 9} Eisenberg I.... Mitrani-Rosenbaum S. (2001)
UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. (PubMed id 10334995)^{1, 2, 9} Keppler O.T.... Pawlita M. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10020	HGNC: 23657	AceView: GNE	Ensembl:ENSG00000159921	euGenes: HUgn10020
ECgene: GNE	Kegg: 10020	H-InvDB: GNE

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GNE	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for GNE	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNE

Intellectual Property for GNE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GNE gene:
Search GeneIP for patents involving GNE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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