Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4669
Gene name Gene Name - the full gene name approved by the HGNC.	N-acetyl-alpha-glucosaminidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NAGLU
Synonyms (NCBI Gene) Gene synonyms aliases	CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 Sanfili

Show/Hide all(85)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894590	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894591	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894592	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, intron variant, coding sequence variant
rs104894594	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104894595	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894596	C>A,T	Pathogenic-likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs104894597	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894598	G>A,C,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104894601	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs112751577	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs118204024	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs118204025	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs138387856	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs138695961	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147036053	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs148881970	A>G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs376090795	G>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs398123281	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs483352897	CGGCCAGGAG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs527236037	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs527236038	G>A,C,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs555145190	G>A,C,T	Pathogenic-likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs727504028	G>T	Pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs746006696	C>T	Pathogenic	Coding sequence variant, missense variant
rs751203469	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs752131463	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs752527478	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs753520553	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs756865833	CTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs758785463	C>T	Likely-pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs760370189	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs762031686	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs763299645	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs764134891	G>A	Likely-pathogenic	Splice acceptor variant, 5 prime UTR variant
rs768814260	A>G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs768918822	A>C,G	Uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs778021009	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs796052122	T>C	Pathogenic	Missense variant, coding sequence variant
rs797044751	->A	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039894	T>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs886039895	->G	Pathogenic	Coding sequence variant, frameshift variant
rs886042073	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs886043792	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs904672363	G>A	Pathogenic	Coding sequence variant, stop gained
rs992677795	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1013345784	T>C,G	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, initiator codon variant
rs1052471595	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1180591588	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1195831432	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1244655820	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1250949842	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1325661354	A>G,T	Pathogenic	Initiator codon variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs1358994052	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs1396150639	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1430122594	G>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1431589133	GCGCGTGCGGGTGCGCGGC>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1445294968	G>T	Pathogenic	Stop gained, 5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1480640960	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1485628563	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555621397	G>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621402	GCGG>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621432	T>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621442	->GCGCG	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621448	->C	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621454	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1555622000	CAGTTGGG>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555622002	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555622019	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555622242	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622250	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622351	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622354	GCCCGGCGGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622441	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622443	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622488	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622505	TGAGGCCGAGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622533	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622545	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622559	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567890328	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1567891258	GT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1567893399	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1599253805	T>G	Likely-pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1599253815	G>A	Pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1599258487	G>T	Pathogenic	Missense variant, coding sequence variant, intron variant

Show/Hide all(31)

miRTarBase ID	miRNA	Experiments
MIRT1173064	hsa-miR-1262	CLIP-seq
MIRT1173065	hsa-miR-1293	CLIP-seq
MIRT1173066	hsa-miR-3165	CLIP-seq
MIRT1173067	hsa-miR-323-5p	CLIP-seq
MIRT1173068	hsa-miR-3616-3p	CLIP-seq
MIRT1173069	hsa-miR-4436b-3p	CLIP-seq
MIRT1173070	hsa-miR-4483	CLIP-seq
MIRT1173071	hsa-miR-4701-3p	CLIP-seq
MIRT1173072	hsa-miR-4736	CLIP-seq
MIRT1173073	hsa-miR-876-3p	CLIP-seq
MIRT2050127	hsa-miR-101	CLIP-seq
MIRT2279048	hsa-miR-1285	CLIP-seq
MIRT2279049	hsa-miR-1291	CLIP-seq
MIRT2279050	hsa-miR-296-5p	CLIP-seq
MIRT2279051	hsa-miR-3187-5p	CLIP-seq
MIRT2279052	hsa-miR-378g	CLIP-seq
MIRT2279053	hsa-miR-4308	CLIP-seq
MIRT2279054	hsa-miR-4486	CLIP-seq
MIRT2279055	hsa-miR-612	CLIP-seq
MIRT2050127	hsa-miR-101	CLIP-seq
MIRT1173064	hsa-miR-1262	CLIP-seq
MIRT1173065	hsa-miR-1293	CLIP-seq
MIRT2577242	hsa-miR-188-3p	CLIP-seq
MIRT1173070	hsa-miR-4483	CLIP-seq
MIRT1173071	hsa-miR-4701-3p	CLIP-seq
MIRT2050127	hsa-miR-101	CLIP-seq
MIRT1173064	hsa-miR-1262	CLIP-seq
MIRT1173065	hsa-miR-1293	CLIP-seq
MIRT2577242	hsa-miR-188-3p	CLIP-seq
MIRT1173070	hsa-miR-4483	CLIP-seq
MIRT1173071	hsa-miR-4701-3p	CLIP-seq

Show/Hide all(78)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001573	Process	Ganglioside metabolic process	IEA
GO:0001774	Process	Microglial cell activation	IEA
GO:0001889	Process	Liver development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0003158	Process	Endothelium development	IEA
GO:0003170	Process	Heart valve development	IEA
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	IEA
GO:0004561	Function	Alpha-N-acetylglucosaminidase activity	IEA
GO:0004561	Function	Alpha-N-acetylglucosaminidase activity	TAS	8650226
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	8650226
GO:0005773	Component	Vacuole	IEA
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007028	Process	Cytoplasm organization	IEA
GO:0007030	Process	Golgi organization	IEA
GO:0007033	Process	Vacuole organization	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007399	Process	Nervous system development	TAS	8650226
GO:0007507	Process	Heart development	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0021675	Process	Nerve development	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	TAS
GO:0030201	Process	Heparan sulfate proteoglycan metabolic process	IEA
GO:0030202	Process	Heparin proteoglycan metabolic process	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032963	Process	Collagen metabolic process	IEA
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0034285	Process	Response to disaccharide	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0035904	Process	Aorta development	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042982	Process	Amyloid precursor protein metabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045475	Process	Locomotor rhythm	IEA
GO:0046548	Process	Retinal rod cell development	IEA
GO:0048143	Process	Astrocyte activation	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048731	Process	System development	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IEA
GO:0099022	Process	Vesicle tethering	IEA
GO:0150076	Process	Neuroinflammatory response	IEA
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA
GO:1904389	Process	Rod bipolar cell differentiation	IEA
GO:1904390	Process	Cone retinal bipolar cell differentiation	IEA

MIM	HGNC	e!Ensembl
609701	7632	ENSG00000108784

Protein

UniProt ID

P54802

Protein name

Alpha-N-acetylglucosaminidase (EC 3.2.1.50) (N-acetyl-alpha-glucosaminidase) (NAG) [Cleaved into: Alpha-N-acetylglucosaminidase 82 kDa form; Alpha-N-acetylglucosaminidase 77 kDa form]

Protein function

Involved in the degradation of heparan sulfate.

PDB

4XWH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12971	NAGLU_N	30 → 116	Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain	Domain
PF05089	NAGLU	130 → 465	Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain	Domain
PF12972	NAGLU_C	474 → 733	Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney.

Sequence

MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKP
GLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGE
LTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYL
ALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTP
VLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELI
KEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQF
WGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGAL
EAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAA
RRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAW
RLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAY
ELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYAN
KQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPR
GDTVDLAKKIFLKYYPRWVAGSW

Sequence length

743

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan degradation Metabolic pathways Lysosome		HS-GAG degradation MPS IIIB - Sanfilippo syndrome B

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	rs104894598	N/A
Mental retardation	intellectual disability	rs758785463	N/A
Mucopolysaccharidosis	Mucopolysaccharidosis, MPS-III-B	rs886039894, rs1599253805, rs768918822, rs1013345784, rs104894591, rs758785463, rs992677795, rs1555622488, rs118204025, rs886039895, rs1599253815, rs1180591588, rs1555621448, rs104894592, rs762031686 View all (65 more)	N/A
mucopolysaccharidosis	Mucopolysaccharidosis	rs104894592, rs1353058781, rs104894594, rs104894595, rs148881970, rs147036053	N/A
sanfilippo syndrome	Sanfilippo syndrome	rs104894598, rs1244655820	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Atopic asthma	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Type 2 diabetes or schizophrenia (pleiotropy)	N/A	N/A	GWAS

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	24180435
Adenocarcinoma	Associate	25860248
Autistic Disorder	Associate	31969655
Brain Diseases	Associate	29606097
Breast Neoplasms	Associate	31629678
Cardiomyopathy Dilated	Associate	29606097
Cognition Disorders	Associate	25466957, 32578945, 33550137
Colorectal Neoplasms	Associate	29955133
Conversion Disorder	Associate	33550137
Diabetic Nephropathies	Associate	33811534
DK Phocomelia Syndrome	Stimulate	36330072
Epilepsy	Associate	29606097, 31969655
Esophageal Squamous Cell Carcinoma	Associate	36359828
Gaucher Disease	Associate	36413418
Genetic Diseases Inborn	Associate	25466957
Glomerulonephritis IGA	Associate	37065697
Glutaric Acidemia I	Associate	31952437
Glycogen Storage Disease IIIB	Associate	30408744
HEM dysplasia	Associate	29606097
Hyperkinesis	Associate	32578945
Intermittent Claudication	Associate	35298547
Kidney Diseases	Associate	33066744, 35298547
Kluver Bucy Syndrome	Associate	27827379
Lenz Majewski hyperostotic dwarfism	Associate	29606097
Lysosomal Storage Diseases	Associate	25818867
Mental Disorders	Associate	32578945, 33550137
Mucopolysaccharidosis III	Associate	12049639, 18443291, 23667853, 25466957, 26907177, 29606097, 29979746, 30408744, 30802506, 31088528, 31952437, 32578945, 33550137, 34040605, 34329663 View all (5 more)
Mucopolysaccharidosis III	Inhibit	21712855, 23840811, 25466957, 32578945
Muscle Hypertonia	Associate	29606097
Neurodegenerative Diseases	Associate	30408744, 34040605
Neuropathy Painful	Associate	25818867
Pain	Associate	25818867
Personality Disorders	Associate	32578945
Rare Diseases	Associate	29606097
Skull Neoplasms	Associate	29606097
Sleep Wake Disorders	Associate	32578945
Soft Tissue Injuries	Associate	24180435

NAGLU (N-acetyl-alpha-glucosaminidase)