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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2990
Gene name	Glucuronidase beta
Gene symbol	GUSB
Synonyms (NCBI Gene)	BGMPS7
Chromosome	7
Chromosome location	7q11.21
Summary	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

Show/Hide all (32)

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

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Transcription factor	Regulation	Reference
TFAP2A	Unknown	15526106

Show/Hide all (28)

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

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

651

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GUSB-related disorder	Pathogenic; Likely pathogenic	rs121918181, rs121918184, rs773510214	RCV003914794 RCV003398406 RCV003422481
Mucopolysaccharidosis type 6	Pathogenic	rs121918181, rs1434169374	RCV000586449 RCV000590006
Mucopolysaccharidosis type 7	Pathogenic; Likely pathogenic	rs1344332366, rs1791443181, rs1210475838, rs587779400, rs1791836120, rs2116026958, rs1377855703, rs1583879945, rs764018631, rs121918172, rs121918173, rs121918174, rs121918177, rs121918179, rs377519272 View all (56 more)	RCV001644997 RCV001644996 RCV001388397 RCV000087087 RCV001548754 RCV003226648 RCV005047995 RCV001824225 RCV001825115 RCV000000941 RCV000000942 RCV000000943 RCV000000946 RCV000000948 RCV000000949 RCV000000950 RCV000000951 RCV000000952 RCV000000953 RCV000000954 RCV000000955 RCV000000956 RCV002254378 RCV002637839 RCV002510326 RCV002908998 RCV003007803 RCV003016456 RCV003045972 RCV003039047 RCV003145936 RCV003145946 RCV003495337 RCV003448854 RCV003495535 RCV003496129 RCV003496926 RCV003497182 RCV003497262 RCV003494663 RCV003494756 RCV003494987 RCV003495893 RCV003495821 RCV003496639 RCV003600552 RCV003600816 RCV003601350 RCV003601413 RCV003601468 RCV003602275 RCV003602379 RCV003602471 RCV003602362 RCV003600112 RCV003600044 RCV003600078 RCV003599997 RCV003600949 RCV003601112 RCV003601166 RCV003828017 RCV003986019 RCV003986020 RCV003989964 RCV001206155 RCV001783100 RCV000721977 RCV000758004 RCV000781445 RCV000855534 RCV001205414 RCV001251384
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs121918173, rs121918185, rs786205671	RCV000170573 RCV000170582 RCV000170580
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs377519272	RCV005887148

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs879010457	RCV005901283
Cervical cancer	Likely benign	rs879010457	RCV005901285
Familial cancer of breast	Likely benign	rs879010457, rs545446158	RCV005901282 RCV005912093
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs2293340	RCV005899250
Intellectual disability	Conflicting classifications of pathogenicity; other; Likely benign	rs149606212, rs1790698721	RCV001252504 RCV001252268
Malignant lymphoma, large B-cell, diffuse	Benign	rs750022485	RCV005870956
Malignant tumor of esophagus	Likely benign	rs879010457	RCV005901284
Nonpapillary renal cell carcinoma	Benign	rs750022485	RCV005870955
Ovarian serous cystadenocarcinoma	Likely benign	rs777871501, rs879010457	RCV005926710 RCV005901286
Prostate cancer	Uncertain significance	rs193920810	RCV000148995

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)