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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2990
Gene name Gene Name - the full gene name approved by the HGNC.	Glucuronidase beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GUSB
Synonyms (NCBI Gene) Gene synonyms aliases	BG, MPS7
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharid

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121918172	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918173	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918174	G>A	Pathogenic	Missense variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs121918175	G>A	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121918176	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918177	G>A	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs121918178	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918179	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121918180	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121918181	G>A	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs121918182	C>G,T	Pathogenic	Missense variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant
rs121918183	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918184	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918185	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs377519272	G>A	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant
rs398123234	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123238	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs587779400	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs774393243	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs786200863	GA>-	Pathogenic	Intron variant
rs786205671	C>G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs786205673	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs786205674	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726973	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886044680	T>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs935464108	TC>-,TCTCTC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1053785648	G>A	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1238361161	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs1264172545	C>A,T	Likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs1382654122	T>G	Pathogenic	Initiator codon variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs1434169374	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1451709678	G>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030165	hsa-miR-26b-5p	Microarray	19088304
MIRT036746	hsa-miR-760	CLASH	23622248
MIRT496919	hsa-miR-449b-3p	PAR-CLIP	22291592
MIRT496918	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT496919	hsa-miR-449b-3p	PAR-CLIP	22291592
MIRT496918	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT1038538	hsa-miR-3591-5p	CLIP-seq
MIRT1038539	hsa-miR-3692	CLIP-seq
MIRT1038540	hsa-miR-4255	CLIP-seq
MIRT1038541	hsa-miR-587	CLIP-seq
MIRT1038542	hsa-miR-670	CLIP-seq
MIRT1038541	hsa-miR-587	CLIP-seq
MIRT2240630	hsa-miR-132	CLIP-seq
MIRT2240631	hsa-miR-212	CLIP-seq
MIRT2240632	hsa-miR-346	CLIP-seq
MIRT2240633	hsa-miR-3663-5p	CLIP-seq
MIRT2240634	hsa-miR-4527	CLIP-seq
MIRT2450894	hsa-miR-1972	CLIP-seq
MIRT2450895	hsa-miR-3612	CLIP-seq
MIRT2450896	hsa-miR-4273	CLIP-seq
MIRT2450897	hsa-miR-4459	CLIP-seq
MIRT2450898	hsa-miR-4677-5p	CLIP-seq
MIRT2450899	hsa-miR-4695-5p	CLIP-seq
MIRT2450900	hsa-miR-650	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
TFAP2A	Unknown	15526106

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004566	Function	Beta-glucuronidase activity	IBA
GO:0004566	Function	Beta-glucuronidase activity	IEA
GO:0004566	Function	Beta-glucuronidase activity	TAS	3468507
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	20028034
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	3468507
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS	1465145
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019904	Function	Protein domain specific binding	IPI	20028034
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0030207	Process	Chondroitin sulfate proteoglycan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0030246	Function	Carbohydrate binding	IBA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
611499	4696	ENSG00000169919

Protein

UniProt ID

P08236

Protein name

Beta-glucuronidase (EC 3.2.1.31) (Beta-G1)

Protein function

Plays an important role in the degradation of dermatan and keratan sulfates.

PDB

1BHG , 3HN3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02837	Glyco_hydro_2_N	38 → 224	Glycosyl hydrolases family 2, sugar binding domain	Domain
PF00703	Glyco_hydro_2	226 → 327	Glycosyl hydrolases family 2	Domain
PF02836	Glyco_hydro_2_C	329 → 631	Glycosyl hydrolases family 2, TIM barrel domain	Domain

Sequence

MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFE
EQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVV
LRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTT
LPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQD
SGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYL
YSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKG
FDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNN
VSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVT
FVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSE
YGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTR
VLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT

Sequence length

651

Interactions

View interactions

	KEGG		Reactome
	Pentose and glucuronate interconversions Ascorbate and aldarate metabolism Glycosaminoglycan degradation Porphyrin metabolism Drug metabolism - other enzymes Metabolic pathways Biosynthesis of cofactors Lysosome		HS-GAG degradation Hyaluronan uptake and degradation MPS VII - Sly syndrome Neutrophil degranulation

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mucopolysaccharidosis	mucopolysaccharidosis type 7, Mucopolysaccharidosis type 6	rs587779400, rs377519272, rs121918183, rs1434169374, rs786200863, rs121918180, rs1053785648, rs121918181, rs1238361161, rs121918172, rs1451709678, rs121918173, rs121918182, rs935464108, rs121918184 View all (5 more)	N/A
Nonimmune Hydrops Fetalis	non-immune hydrops fetalis	rs786205671, rs121918173, rs121918185	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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	18042273, 27324944
Carcinoma Hepatocellular	Associate	35812439
Carcinoma Renal Cell	Associate	25225161
Cartilage Diseases	Associate	36010590
Clear cell metastatic renal cell carcinoma	Associate	25225161
Crohn Disease	Associate	26824357
Cystic Fibrosis	Associate	9989241
Diabetes Mellitus	Stimulate	36749929
Drug Related Side Effects and Adverse Reactions	Associate	33411719
Dysbiosis	Associate	39456258
Gallstones	Associate	26625708
Gaucher Disease	Associate	37784132
Graft vs Host Disease	Associate	31661765
Hyperbilirubinemia	Associate	33411719
Hyperglycemia	Associate	25193495
Hypopharyngeal Neoplasms	Associate	31173291
Inflammation	Associate	39456258
Kashin Beck Disease	Associate	36010590
Laryngeal Neoplasms	Associate	31173291
Leukemia Lymphocytic Chronic B Cell	Associate	20813001
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	16825513
Leukodystrophy Globoid Cell	Associate	40391866
Leukodystrophy Metachromatic	Associate	37784132
Lung Diseases	Associate	20037605
Lung Diseases Interstitial	Associate	8736208
Lymphatic Metastasis	Associate	21319141
Lysosomal Storage Diseases	Associate	31603145
Mucolipidoses	Associate	1309624, 2959666
Mucopolysaccharidoses	Associate	21743015
Mucopolysaccharidosis I	Associate	3112309, 31603145, 401508
Mucopolysaccharidosis VI	Associate	40391866
Mucopolysaccharidosis VII	Associate	1318788, 24260279, 28207930, 30413728, 31661765, 7573038, 8089138
Mucopolysaccharidosis VII	Inhibit	38442846, 7573038, 9155679
Multiple Organ Failure	Associate	37533854
Neoplasms	Associate	27986920, 34487971, 40391866
Neoplasms	Stimulate	35812439
Neurodegenerative Diseases	Associate	28825628, 40391866
Osteoarthritis	Associate	36010590
Ovarian Neoplasms	Associate	8282116
Pancreatic Neoplasms	Associate	28262749
Sarcoidosis	Stimulate	8736208
Thyroid Cancer Papillary	Associate	31645594
Urinary Bladder Neoplasms	Associate	33057113
Uterine Cervical Neoplasms	Associate	21319141
Uveal melanoma	Associate	34630418

GUSB (glucuronidase beta)