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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NAGLU Gene

protein-coding GIFtS: 62
GCID: GC17P040687

N-acetylglucosaminidase, alpha

Explore 105 diseases affiliated with
NAGLU via

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

Aliases
N-Acetylglucosaminidase, Alpha¹ ²		UFHSD²
NAG¹ ² ³		Alpha-N-Acetylglucosaminidase¹
N-Acetyl-Alpha-Glucosaminidase¹		EC 3.2.1.50³
MPS3B² ⁵		UFHSD1³
MPS-IIIB²

External Ids:	HGNC: 7632¹	Entrez Gene: 4669²	Ensembl: ENSG00000108784⁷	OMIM: 609701⁵	UniProtKB: P54802³

Export aliases for NAGLU gene to outside databases

Previous GC identifers: GC17M040212 GC17M042827 GC17P040596 GC17P041061 GC17P037941 GC17P036452

(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 NAGLU:

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in

N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB),

also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion

of heparan sulfate. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802

Function: Involved in the degradation of heparan sulfate

(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_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NAGLU gene promoter:
GR PPAR-gamma1 GR-beta STAT3 PPAR-gamma2 GR-alpha GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NAGLU promoter sequence

Search SABiosciences Chromatin IP Primers for NAGLU

Epigenetics:

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

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

Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q21.2

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

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P040687: view genomic region (about GC identifiers)

Start:	40,687,951 bp from pter	End:	40,696,467 bp from pter
Size:	8,517 bases	Orientation:	plus 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: ANAG_HUMAN, P54802 (See protein sequence)

Recommended Name: Alpha-N-acetylglucosaminidase precursor

Size: 743 amino acids; 82266 Da

Subunit: Monomer and homodimer

Subcellular location: Lysosome

Caution: A MPS3B mutation at position 100 was erroneously reported (PubMed:9950362) as an amino acid change from Arg to

His. The right amino acid change is from His to Arg

Explore the universe of human proteins at neXtProt for NAGLU: NX_P54802

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P54802

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

REFSEQ proteins: NP_000254.2

ENSEMBL proteins:

ENSP00000225927 ENSP00000467135 ENSP00000467836 ENSP00000466892 ENSP00000468665

Reactome Protein details: P54802
Human Recombinant Protein Products:

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	Novus Biologicals NAGLU Protein
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	Uscn Proteins for NAGLU

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:0005764	lysosome	TAS	8650226
GO:0043202	lysosomal lumen	TAS	--

NAGLU for ontologies About GeneDecksing

NAGLU Antibody Products:

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	Novus Biologicals NAGLU Antibodies
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	Uscn ELISAs and CLIAs for NAGLU

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

NAGLU for domains About GeneDecksing

4 InterPro domains/families:

IPR024733 NAGLU_tim-barrel

IPR024732 NAGLU_C

IPR007781 NAGLU

IPR024240 NAGLU_N

Graphical View of Domain Structure for InterPro Entry P54802

ProtoNet protein and cluster: P54802

(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: ANAG_HUMAN, P54802

Function: Involved in the degradation of heparan sulfate

Catalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in

N-acetyl-alpha-D-glucosaminides

Genatlas biochemistry entry for NAGLU:

acetyl-glucosaminidase,alpha-N,77/82kDa,lysosomal,acting on heparan sulfate,catalyzing the fifth step of degradation of

glycosaminoglycans (mucopolysaccharides)

Enzyme Number (IUBMB): EC 3.2.1.50¹

miRNA Products:		OriGene 3'-UTR Clone: NAGLU Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAGLU
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NAGLU (see all 4) OriGene shRNA RFP: NAGLU OriGene siRNA: NAGLU
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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NAGLU
		Search LifeMap BioReagents cell lines for NAGLU

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAGLU

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004561	alpha-N-acetylglucosaminidase activity	IEA	--

NAGLU for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for NAGLU:

Increased G2M DNA content

Increased circadian period len

Animal Models:
Mouse knock-out Naglu^tm1Efn for NAGLU
15/16 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Naglu) (see all 16):

behavior/neurological	cardiovascular system	cellular	craniofacial	growth/size
hearing/vestibular/ear	hematopoietic system	immune system	integument	liver/biliary system
mortality/aging	nervous system	pigmentation	renal/urinary system	skeleton

NAGLU 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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/15 pathways (see all 15)
MPS VI - Maroteaux-Lamy syndrome	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIID - Sanfilippo syndrome D	1.00
MPS I - Hurler syndrome	1.00	MPS IX - Natowicz syndrome	1.00
Mucopolysaccharidoses	1.00	MPS II - Hunter syndrome	1.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Disease

Disease

1.00

Lysosome

Lysosome

1.00

Glycosaminoglycan degradation

Glycosaminoglycan degradation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/18 Reactome Pathways for NAGLU (see all 18)

	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	MPS II - Hunter syndrome
	MPS IIIA - Sanfilippo syndrome A

3 Kegg Pathways (Kegg details for NAGLU):

	Glycosaminoglycan degradation
	Metabolic pathways
	Lysosome

NAGLU for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/13 Interacting proteins for NAGLU (ENSP00000225927⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GUSB	ENSP00000302728⁴	STRING: ENSP00000302728
HGSNAT	ENSP00000368965⁴	STRING: ENSP00000368965
IDS	ENSP00000339801⁴	STRING: ENSP00000339801
PDIA6	ENSP00000272227⁴	STRING: ENSP00000272227
DNAJC3	ENSP00000365991⁴	STRING: ENSP00000365991

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006027	glycosaminoglycan catabolic process	TAS	--
GO:0007040	lysosome organization	IEA	--
GO:0007399	nervous system development	TAS	8650226
GO:0021680	cerebellar Purkinje cell layer development	IEA	--

NAGLU 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

NAGLU for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for NAGLU available from Tocris Bioscience About this table

Compound	Action	CAS #
(Z)-Pugnac	O-GlcNAcase and beta-hexosaminidase inhibitor	[132489-69-1]

2 HMDB Compounds for NAGLU About this table

Compound	Synonyms	CAS #	PubMed Ids
N-Acetyl-D-glucosamine	2-(acetylamino)-2-deoxyhexose (see all 9)	7512-17-6	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for NAGLU About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
N-Acetyl-D-glucosamine	2-Acetamido-2-deoxy-D-glucose (see all 4)	7512-17-6	target	activator	17576230 15112051 15932346 11752352 17414423 16349528

10/115 Novoseek chemical compound relationships for NAGLU gene (see all 115) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
vra-glcnac	88.9	1	1610104 (1)
creatinine	85.3	496	8831085 (6), 7669872 (5), 9640082 (4), 12368574 (4) (see all 99)
iopentol	73	4	1594886 (1), 8478172 (1)
cadmium	62.2	128	2403983 (5), 1463395 (4), 9037804 (4), 1587629 (4) (see all 37)
heparan sulfate	58.2	24	10588735 (2), 10094189 (1), 11136549 (1), 19479962 (1) (see all 17)
dmsa	55.1	6	8036046 (2), 7696107 (1), 1282579 (1), 1962830 (1)
ulinastatin	51.1	8	1625386 (2), 10208830 (1), 8865705 (1), 9095614 (1)
vitamin a	46.8	23	2405789 (2), 11892904 (2), 9659267 (2), 8343421 (1) (see all 20)
alanine	46.4	35	7910667 (1), 7526273 (1), 10841912 (1), 9184707 (1) (see all 35)
uric acid	42.9	29	18063857 (5), 11847525 (3), 15626645 (3), 7768579 (2) (see all 13)

Search CenterWatch for drugs/clinical trials and news about NAGLU / ANAG

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 NAGLU gene:

NM_000263.3

Unigene Cluster for NAGLU:

N-acetylglucosaminidase, alpha

Hs.50727 [show with all ESTs]

Unigene Representative Sequence: NM_000263

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

ENST00000225927(uc002hzv.3) ENST00000586516 ENST00000591587 ENST00000590358

ENST00000592454

miRNA Products:		OriGene 3'-UTR Clone: NAGLU Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAGLU
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NAGLU
		SwitchGear 3'UTR luciferase reporter plasmid: NAGLU 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NAGLU (see all 4) OriGene shRNA RFP: NAGLU OriGene siRNA: NAGLU
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		GenScript: all cDNA clones in your preferred vector: NAGLU (NM_000263)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NAGLU
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAGLU

Additional cDNA sequence:

BC053991.1 L78464.1 U40846.1 U43573.1

10 DOTS entries:

DT.120973669 DT.413876 DT.100749425 DT.97817493 DT.75184455 DT.100749424 DT.100749426 DT.120973622

DT.95368263 DT.120973645

24/163 AceView cDNA sequences (see all 163):

AI973061 BM711369 BM746456 L78464 BM752987 U43573 BF346260 AU279934

BM773017 CB268477 BQ893829 AU118592 BM716556 BF435029 BQ012843 BC053991

BM710066 BM772104 BQ012348 AW205580 NM_000263 CR623854 AI916139 CA439269

GeneLoc Exon Structure

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

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6a	·	6b	·	6c
SP1:
SP2:
SP3:															-

ECgene alternative splicing isoforms for NAGLU

(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

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

About this image

NAGLU expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mature follicles (In-vitro growth and ...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NAGLU Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NAGLU

SOURCE GeneReport for Unigene cluster: Hs.50727

UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802

Tissue specificity: Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and

kidney

SABiosciences Custom PCR Arrays for NAGLU

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NAGLU
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAGLU

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAGLU

(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 common ancestor of eukaryotes.

Orthologs for NAGLU gene from 9/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Naglu^{1 , 5}	alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)^{1, 5}	83.72(n)¹ 82.99(a)¹		11 (64.15 cM)⁵ 27419¹ NM_013792.2¹ NP_038820.2¹ 101070012⁵
chicken (Gallus gallus)	Aves	NAGLU⁶	--	65(a)	1 ↔ 1	Un(33747194-33749327)
lizard (Anolis carolinensis)	Reptilia	NAGLU⁶	--	61(a)	1 ↔ 1	6(72905690-72916043)
African clawed frog (Xenopus laevis)	Amphibia	Xl.21322²	Xenopus laevis transcribed sequence with weak similarity more	73.5(n)		CD327472.1
zebrafish (Danio rerio)	Actinopterygii	naglu¹	N-acetylglucosaminidase, alpha	61.8(n) 58.77(a)		560126 XM_683516.3 XP_688608.3
fruit fly (Drosophila melanogaster)	Insecta	ESTS:172F5T³ CG13397¹	alpha-N-acetylglucosaminidase³ CG13397¹	41(a)³ 51.29(n)¹ 42.45(a)¹		29C3³ 46386¹ NM_143788.3¹ NP_652045.1¹
worm (Caenorhabditis elegans)	Secernentea	K09E4.4³	--	35(a)		II(14114186-14117258) --
thale cress (Arabidopsis thaliana)	eudicotyledons	CYL1¹	alpha-N-acetylglucosaminidase	49.98(n) 43.65(a)		831214 NM_121372.3 NP_196873.1
rice (Oryza sativa)	Liliopsida	--	alpha-N-acetylglucosaminidase, putative, expressed...	35(a)	1 ↔ 1	4(32985096-32994229)

ENSEMBL Gene Tree for NAGLU (if available)
TreeFam Gene Tree for NAGLU (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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894592^1,2	C	pathogenic	40693092(+)	`TCCTGC/TGAGAG`	2	R *	stg¹		0	--	--	--	--
rs104894596^1,2	C	pathogenic	40695468(+)	`CCCGGC/TGGTAT`	2	R W	mis¹		0	--	--	--	--
rs104894595^1,2	C	pathogenic	40695586(+)	`GCGGCC/TGTCCC`	2	P L	mis¹		0	--	--	--	--
rs104894598^1,2	C	pathogenic	40695718(+)	`CACTCC/GGCAGG`	2	P R	mis¹		0	--	--	--	--
rs104894591^1,2	C	pathogenic	40695900(+)	`AGGCCC/TGAGCA`	2	R *	stg¹		0	--	--	--	--
rs104894594^1,2	C	pathogenic	40695951(+)	`ACAGCC/TGCTAC`	2	R C	mis¹		0	--	--	--	--
rs104894593^1,2	C	pathogenic	40695952(+)	`CAGCCA/GCTACC`	2	H R	mis¹		0	--	--	--	--
rs104894590^1,2	C	pathogenic	40696045(+)	`CCCTCA/GCTGGC`	2	H R	mis¹		0	--	--	--	--
rs4793099^1,2	C,F,A,H,	--	40686040(-)	`TTTCTA/GCTGAA`	1	--	us2k¹		21		NS EA NA WA CSA	1995
rs114517010^1,2	F,	--	40686056(+)	`GTAAAT/GGAAGG`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for NAGLU (40687951 - 40696467 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NAGLU
1 CNV: 23316
Human Gene Mutation Database (HGMD): NAGLU

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(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

NAGLU for disorders           About GeneDecksing

OMIM gene information: 609701
OMIM disorders: 252920
UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802

Defects in NAGLU are the cause of mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]; also known as Sanfilippo

syndrome B. MPS3B is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to

impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only

mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration

occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of

life

20/105 diseases for NAGLU (see all 105): About MalaCards

mucopolysaccharidosis mucopolysaccharidosis type iiib (sanfilippo b) spinal cord injury steroid-resistant nephrotic syndrome

disseminated intravascular coagulation lysosomal storage disease vesicoureteral reflux retinol binding protein

pyelonephritis glanzmann's thrombasthenia urinary tract infection myocardial infarction

abdominal aortic aneurysm mucopolysaccharidosis iii diabetes mellitus acute myocardial infarction

diabetic angiopathy nephrotic syndrome acute pyelonephritis chronic pyelonephritis

2 diseases from the University of Copenhagen DISEASES database for NAGLU:

Mucopolysaccharidosis Intellectual disability

10/92 Novoseek disease relationships for NAGLU gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sanfilippos syndrome	90.5	29	10588735 (3), 9443878 (2), 19399896 (2), 20138557 (2) (see all 21)
mps iii b	87.6	3	11136549 (1), 16401642 (1), 19399896 (1)
mucopolysaccharidosis	80.9	26	11068184 (2), 9443875 (1), 10094189 (1), 11237686 (1) (see all 19)
microalbuminuria	74.8	46	9612904 (4), 15330557 (4), 12368574 (4), 2150050 (2) (see all 28)
proteinuria	74.7	79	12401843 (6), 15503426 (4), 15714179 (4), 12900807 (4) (see all 39)
albuminuria	72.5	20	1837508 (2), 8998811 (2), 9861409 (2), 1533771 (2) (see all 15)
renal disease	71.5	56	1962647 (4), 8739282 (3), 2342652 (3), 2150050 (2) (see all 40)
diabetic nephropathies	68.4	35	1350771 (5), 1685160 (2), 7669872 (2), 9436372 (2) (see all 20)
mps iiia	63	1	11793481 (1)
toxicity renal	60	2	9061418 (1), 17306939 (1)

Export disorders for NAGLU 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 NAGLU gene, integrated from 9 sources (see all 652):
(articles sorted by number of sources associating them with NAGLU)

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

Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. (PubMed id 11068184)^{1, 2, 9} Yogalingam G.... Hopwood J.J. (2000)
NAGLU mutations underlying Sanfilippo syndrome type B. (PubMed id 9443878)^{1, 2, 9} Schmidtchen A....Neufeld E.F. (1998)
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. (PubMed id 15933803)^{1, 2, 9} Chinen Y.... Ohta T. (2005)
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. (PubMed id 11793481)^{1, 2, 9} Emre S....Hopwood J.J. (2002)
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (PubMed id 10094189)^{1, 2, 9} Weber B.... Hopwood J.J. (1999)
The molecular basis of Sanfilippo syndrome type B. (PubMed id 8650226)^{1, 2, 9} Zhao H.G.... Neufeld E.F. (1996)
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (PubMed id 8776591)^{1, 2, 9} Weber B.... Hopwood J.J. (1996)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. (PubMed id 12202988)^{1, 2} Tanaka A.... Yamano T. (2002)
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. (PubMed id 9950362)^{1, 2} Bunge S.... Gal A. (1999)

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

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4669	HGNC: 7632	AceView: NAGLU	Ensembl:ENSG00000108784	euGenes: HUgn4669
ECgene: NAGLU	Kegg: 4669	H-InvDB: NAGLU

(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 NAGLU	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NAGLU

Intellectual Property for NAGLU gene
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Patent Information for NAGLU gene:
Search GeneIP for patents involving NAGLU

GeneCards and IP:
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N-acetylglucosaminidase, alpha

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Microalbuminuria
Cystitis
essential hypertension
Acute myocardial infarction
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HEMOLYSIS INTRAVASCULAR
Ischemia
Intoxication
Asphyxia
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Vesicoureteral Reflux
Nephrotic Syndrome
cell damage
Cancer
TUBULAR NECROSIS ACUTE
Diabetes Mellitus Insulin-Dependent
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OBSTRUCTIVE UROPATHY
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TOXICITY RENAL
retinopathy
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systemic hypertension
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Inflammatory Bowel Diseases
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KIDNEY DYSFUNCTION
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STROKE
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NAGLU Gene

N-acetylglucosaminidase, alpha

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