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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GUSB Gene

protein-coding GIFtS: 68
GCID: GC07M065425

glucuronidase, beta

Explore 108 diseases affiliated with
GUSB 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
Glucuronidase, Beta¹ ²		Beta-D-Glucuronidase¹
EC 3.2.1.31³ ⁸		Beta-G1³
MPS7² ⁵		Beta-Glucuronidase¹
BG²		Beta-G1³

External Ids:	HGNC: 4696¹	Entrez Gene: 2990²	Ensembl: ENSG00000169919⁷	OMIM: 611499⁵	UniProtKB: P08236³

Export aliases for GUSB gene to outside databases

Previous GC identifers: GC07M064065 GC07M064823 GC07M064837 GC07M064869 GC07M065064 GC07M061613

(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 GUSB:

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 mucopolysaccharidosis type VII. There are many pseudogenes of this locus in the human genome.(provided by

RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: BGLR_HUMAN, P08236

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

Gene Wiki entry for GUSB

(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_000007.13 NC_018918.1 NT_007933.15 NT_079593.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GUSB gene promoter:
TBP Ik-2 AML1a Sp1 SEF-1 (1)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GUSB promoter sequence

Search SABiosciences Chromatin IP Primers for GUSB

Epigenetics:

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

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

Entrez Gene cytogenetic band: 7q21.11 Ensembl cytogenetic band: 7q11.21 HGNC cytogenetic band: 7q11.21

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

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M065425: view genomic region (about GC identifiers)

Start:	65,425,671 bp from pter	End:	65,447,301 bp from pter
Size:	21,631 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 64,763,190-64,784,820

(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: BGLR_HUMAN, P08236 (See protein sequence)

Recommended Name: Beta-glucuronidase precursor

Size: 651 amino acids; 74732 Da

Subunit: Homotetramer

Subcellular location: Lysosome

2 PDB 3D structures from and Proteopedia for GUSB:

1BHG (3D)

3HN3 (3D)

Secondary accessions: Q549U0 Q96CL9

Alternative splicing: 2 isoforms: P08236-1 P08236-2

Explore the universe of human proteins at neXtProt for GUSB: NX_P08236

Post-translational modifications:

N-linked glycosylated with 3 to 4 oligosaccharide chains¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08236

4/13 DME Specific Peptides for GUSB (P08236) (see all 13)

DFFNYAG

TLPPGTI

SKYPKGYF

PKSAAFLL

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

REFSEQ proteins: NP_000172.2

ENSEMBL proteins:

ENSP00000302728 ENSP00000411262 ENSP00000411859 ENSP00000391390 ENSP00000416793

ENSP00000394358 ENSP00000340734

Reactome Protein details: P08236
Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005764	lysosome	--	--
GO:0005792	microsome	--	--
GO:0043202	lysosomal lumen	TAS	--
GO:0043231	intracellular membrane-bounded organelle	IDA	--

GUSB for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

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

GUSB for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR023230 Glyco_hydro_2_CS

IPR017853 Glycoside_hydrolase_SF

IPR008979 Galactose-bd-like

IPR013812 Glyco_hydro_2/20_Ig-like

IPR013781 Glyco_hydro_catalytic_dom

Graphical View of Domain Structure for InterPro Entry P08236

ProtoNet protein and cluster: P08236

1 Blocks protein family: IPB006103 Glycoside hydrolase

UniProtKB/Swiss-Prot: BGLR_HUMAN, P08236

Similarity: Belongs to the glycosyl hydrolase 2 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: BGLR_HUMAN, P08236

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

Catalytic activity: A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol

Enzyme regulation: Inhibited by L-aspartic acid

Genatlas biochemistry entry for GUSB:

glucuronidase,beta-,lysosomal,acting on dermatan sulfate,heparan sulfate,catalyzing the fifth step of degradation of

glucosaminoglycans (mucopolysaccharides)

Enzyme Number (IUBMB): EC 3.2.1.31¹ ²

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate GUSB:
		hsa-miR-3190
		SwitchGear 3'UTR luciferase reporter plasmid: GUSB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUSB

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	--	--
GO:0004566	beta-glucuronidase activity	TAS	--
GO:0043169	cation binding	IEA	--

GUSB for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for GUSB:

Cells with protrusions

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

Animal Models:
15/16 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Gusb) (see all 16):

adipose tissue	behavior/neurological	cellular	craniofacial	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument
limbs/digits/tail	mortality/aging	normal	renal/urinary system	reproductive system

GUSB 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 - 5/9 super-pathways (see all 9) 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

Glucuronidation

	Starch and sucrose metabolism	0.42			Drug metabolism - other enzymes	0.32
	Porphyrin and chlorophyll metabolism	0.38

Hyaluronan uptake and degradation

Hyaluronan uptake and degradation

1.00

Hyaluronan metabolism

0.71

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/20 Reactome Pathways for GUSB (see all 20)

	Hyaluronan metabolism
	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	MPS II - Hunter syndrome

5/7 Kegg Pathways (Kegg details for GUSB) (see all 7):

	Pentose and glucuronate interconversions
	Starch and sucrose metabolism
	Glycosaminoglycan degradation
	Porphyrin and chlorophyll metabolism
	Drug metabolism - other enzymes

GUSB for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/67 Interacting proteins for GUSB (P08236^{2, 3} ENSP00000302728⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 67)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CES1	P23141³, ENSP00000353720⁴	I2D: score=2 STRING: ENSP00000353720
PRKACA	P17612³, ENSP00000309591⁴	I2D: score=2 STRING: ENSP00000309591
ATP6V1B2	P21281², ENSP00000276390⁴	MINT-4054731 STRING: ENSP00000276390
GLB1	P16278², ENSP00000306920⁴	MINT-4054731 STRING: ENSP00000306920
SLC2A4	P14672³	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:0005975	carbohydrate metabolic process	TAS	--
GO:0006027	glycosaminoglycan catabolic process	TAS	--
GO:0030203	glycosaminoglycan metabolic process	TAS	--
GO:0030212	hyaluronan metabolic process	TAS	--
GO:0030214	hyaluronan catabolic process	TAS	--

GUSB 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

GUSB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GUSB

10/86 HMDB Compounds for GUSB (see all 86) About this table

Compound	Synonyms	CAS #	PubMed Ids
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)	(23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide) (see all 5)	--	--
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid	Ibuprofen acyl glucuronide;(2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid (see all 5)	115075-59-7	--
1-Butanol	1-Butanol (see all 10)	71-36-3	--
1-Hexanol	1-Hexyl alcohol (see all 30)	111-27-3	--
1-Pentanol	1-Pentol (see all 34)	71-41-0	--
1-Salicylate glucuronide	1-salicylic acid glucuronide	--	--
11-Hydroxyprogesterone 11-glucuronide	11-hydroxyprogesterone 11-glucuronoside (see all 5)	77710-64-6	--
11-Oxo-androsterone glucuronide	11-oxo-etiocholanolone glucuronide (see all 3)	--	--
11-beta-hydroxyandrosterone-3-glucuronide	11-beta-hydroxyetiocholanolone-3-glucuronide	--	--
15-hydroxynorandrostene-3,17-dione glucuronide	15-HNADG (see all 5)	131749-23-0	--

1 DrugBank Compound for GUSB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Alpha-D-Mannose	--	3458-28-4	target	--	17139284 17016423

10/156 Novoseek chemical compound relationships for GUSB gene (see all 156) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucuronide	89	57	9192823 (2), 11160851 (2), 10753066 (2), 8454708 (1) (see all 49)
temazepam glucuronide	78.3	4	11305436 (2), 1783647 (1), 11908630 (1)
bilirubin diglucuronide	71.7	5	8845801 (1), 11522976 (1), 9249878 (1), 19390887 (1) (see all 5)
d-glucaro-1,4-lactone	71.6	4	18718121 (2), 1826840 (1), 8096720 (1)
n-hydroxymexiletine glucuronide	71.1	1	9951400 (1)
fmlp	70.1	52	2150408 (2), 1722562 (2), 1281979 (2), 1652137 (2) (see all 36)
hydroxyethylflurazepam	69.3	2	12545496 (1)
lorazepam glucuronide	68.9	3	11305436 (2), 11908630 (1)
mannose 6-phosphate	68.7	19	9873065 (3), 2221912 (2), 2172972 (1), 1846001 (1) (see all 13)
alpha-benzyl-n-methylphenethylamine	67.7	2	8577176 (1), 8868398 (1)

Search CenterWatch for drugs/clinical trials and news about GUSB / BGLR

(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 GUSB gene:

NM_000181.3

Unigene Cluster for GUSB:

Glucuronidase, beta

Hs.255230 [show with all ESTs]

Unigene Representative Sequence: AK096764

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

ENST00000304895(uc003tun.3 uc011kdt.2) ENST00000466883 ENST00000447929

ENST00000430730 ENST00000421103 ENST00000461622 ENST00000462371 ENST00000465785

ENST00000479038 ENST00000489482 ENST00000475316 ENST00000476486 ENST00000446111(uc010kzw.2)

ENST00000452642 ENST00000478118 ENST00000429291 ENST00000345660

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		hsa-miR-3190
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GUSB

Additional cDNA sequence:

AK096764.1 AK223406.1 AK300223.1 AK303819.1 AK311273.1 AK312752.1 BC014142.2 M10618.1

M15182.1

23 DOTS entries:

DT.85105502 DT.100820083 DT.101984644 DT.100695069 DT.91652801 DT.100820085 DT.100702879 DT.100820084

DT.121127649 DT.95187368 DT.121127423 DT.92436577 DT.100027364 DT.91886293 DT.75145510 DT.100694161

DT.121127391 DT.121127463 DT.121127502 DT.121127611 DT.92436578 DT.95325673 DT.92436574

24/208 AceView cDNA sequences (see all 208):

AU076494 BU845734 CB267871 AI739380 CA489317 BC014142 BX281037 BM760212

BG121498 BQ941531 BM561778 BM684077 BQ684422 CF132556 AI652818 AU279707

BM770952 CA453907 CN481727 BM787663 BU838130 BI905961 D79069 BQ706735

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for GUSB (see all 17) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	·	6c	^	7a	·	7b	^	8a	·	8b	·	8c	^	9	^	10	^	11a	·	11b	^	12a	·	12b	·	12c	^
SP1:																																											-		-						-
SP2:													-								-										-
SP3:																																																			-
SP4:											-		-																		-
SP5:																															-												-		-

ExUns:	13a	·	13b	·	13c	^	14	^	15	^	16	^	17
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for GUSB

(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

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

About this image

GUSB expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Placenta

Extravillous Cytotrophoblast Layer

Extravillous Cytotrophoblast Cells

Extraembryonic Tissues, Placenta

Liver

Liver Lobule

Periportal Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.255230

SABiosciences Expression via Pathway-Focused PCR Arrays including GUSB (see all 146):

Antiviral Response in human mouse rat

Multiple Sclerosis in human mouse rat

Wound Healing in human mouse rat

Prostate Cancer in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GUSB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUSB

(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 GUSB gene from 10/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gusb^{1 , 5}	glucuronidase, beta^{1, 5}	78.09(n)¹ 75.39(a)¹		5 (68.32 cM)⁵ 110006¹ NM_010368.1¹ NP_034498.1¹ 129989011⁵
chicken (Gallus gallus)	Aves	GUSB¹	glucuronidase, beta	69.24(n) 70.66(a)		427823 NM_001039316.1 NP_001034405.1
lizard (Anolis carolinensis)	Reptilia	GUSB⁶	--	68(a)	1 ↔ 1	AAWZ02039867(87-5267)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.15952²	Transcribed sequence with moderate similarity to protein more	76.82(n)		BX745933.1
zebrafish (Danio rerio)	Actinopterygii	gusb¹	glucuronidase, beta	65.16(n) 66.8(a)		571441 XM_695030.5 XP_700122.5
fruit fly (Drosophila melanogaster)	Insecta	CG15117^{1 , 3}	beta-glucuronidase³ CG15117¹	45(a) (best of 2)³ 54.53(n)¹ 48.57(a)¹		56B5³ 37197¹ NM_001014535.1¹ NP_001014535.1¹
worm (Caenorhabditis elegans)	Secernentea	Y105E8B.9³ CELE_Y105E8B.9¹	Protein Y105E8B.9¹	39(a)³ 50.09(n)¹ 40.85(a)¹		I(14683748-14690604)³ 173326¹ NM_061147.2¹ NP_493548.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G54440⁶	beta-galactosidase	11(a)	1 ↔ 1	3(20148292-20157138)
rice (Oryza sativa)	Liliopsida	--	beta-galactosidase, putative, expressed	11(a)	1 ↔ 1	1(41953590-41961744)
E. coli (Escherichia coli)	Gamma proteobacteria	uidA⁶ lacZ⁶ (see all 3)	beta-D-galactosidase (see all 3)	43(a) 12(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	Chromosome(1692284-1694095) Chromosome(362455-365529)

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

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

Paralogs for GUSB gene

1 SIMAP similar gene for GUSB using alignment to 5 protein entries: BGLR_HUMAN (see all proteins):

GUSB for paralogs About GeneDecksing

5/22 Pseudogenes.org Pseudogenes for GUSB (see all 22)
PGOHUM00000250322 PGOHUM00000246093 PGOHUM00000261906 PGOHUM00000261907 PGOHUM00000261908

(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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918176^1,2	C	pathogenic	64763528(-)	`TCACTC/TGGCAG`	2	R W	mis¹		1		NA	4552
rs121918173^1,2	C	pathogenic	64777132(-)	`CTTTCC/TGTACC`	2	R C	mis¹		1		NA	4550
rs121918182^1,2	C,	pathogenic	64777440(-)	`AACAAA/C/GCATGA`	3	K N	syn¹ mis¹		0	--	--	--	--
rs121918181^1,2	C	pathogenic	64782288(-)	`ACACAC/TTCACC`	2	L F	mis¹		1		EU	1043
rs113552467^1,2	F	--	64763165(+)	`AGCACG/AACGCA`	1	--	ds500¹		1		CSA	4
rs77293332^1,2	C,F,	--	64763231(+)	`CATAAT/CAGAAA`	1	--	ut3¹		1		NA	120
rs74802260^1,2	F,	--	64763932(+)	`CACCAT/CGCTCA`	1	--	int¹		1		WA	118
rs34994057^1,2	F,	--	64764577(-)	`AGACAG/CCTGGG`	1	--	int¹		2		NA	212
rs17138062^1,2	C,F,H,	--	64764656(+)	`GAAGAG/CATAGC`	1	--	int¹		18		NA NS EA WA	2052
rs13228566^1,2	C,F,H,	--	64765729(+)	`GTCCCC/TAGAAA`	1	--	int¹		10		NS EA NA	1218

HapMap Linkage Disequilibrium report for GUSB (65425671 - 65447301 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GUSB
1 CNV: 64848
Human Gene Mutation Database (HGMD): GUSB

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for GUSB

(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

GUSB for disorders           About GeneDecksing

OMIM gene information: 611499
OMIM disorders: 253220
UniProtKB/Swiss-Prot: BGLR_HUMAN, P08236

Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [MIM:253220]; also known as Sly syndrome.

MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic

acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to

mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal

anomalies, coarse facies, and variable degrees of mental impairment

Note=Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the

fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a

diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of

disorders

20/108 diseases for GUSB (see all 108): About MalaCards

mucopolysaccharidosis chediak-higashi syndrome hydrops fetalis alveolar soft part sarcoma

lysosomal storage disease acalculous cholecystitis hemolytic-uremic syndrome infectious mononucleosis

mucopolysaccharidosis vii corneal clouding necrotizing ulcerative gingivitis craniofacial abnormalities

vacuolar myopathy severe congenital neutropenia mouth disease choledocholithiasis

inflammatory bowel disease pelvic inflammatory disease sickle cell disease mucolipidoses

1 disease from the University of Copenhagen DISEASES database for GUSB:

Mucopolysaccharidosis

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mucopolysaccharidosis type vii	96.3	157	8831129 (4), 2111021 (3), 1632440 (2), 14642000 (2) (see all 90)
lysosomal storage diseases	82.9	22	12591953 (2), 8083358 (1), 9616735 (1), 9134434 (1) (see all 17)
mucopolysaccharidosis	77.1	15	10074197 (1), 14642000 (1), 10779845 (1), 11238101 (1) (see all 11)
hydrops fetalis	59.6	14	1632440 (2), 8831129 (2), 8111412 (2), 1833732 (1) (see all 11)
morquios syndrome	58.9	2	19243213 (1)
i-cell disease	54.5	1	1309624 (1)
periodontal diseases	48.2	11	18413987 (2), 7722845 (2), 8144731 (1), 11324213 (1) (see all 9)
mucolipidosis iii	42.8	1	1309624 (1)
chediak-higashi syndrome	39.4	1	9293701 (1)
urine blood	26.4	3	8027935 (1), 11266492 (1)

Genetic Association Database (GAD): GUSB
Human Genome Epidemiology (HuGE) Navigator: GUSB (1 document)

Export disorders for GUSB 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 GUSB gene, integrated from 9 sources (see all 798):
(articles sorted by number of sources associating them with GUSB)

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

Cloning, sequencing, and expression of cDNA for human beta- glucuronidase. (PubMed id 3468507)^{1, 2, 3} Oshima A.... Gravel R.A. (1987)
Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample. (PubMed id 16272959)^{1, 4, 9} Gratz M....Kroemer H.K. (2005)
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). (PubMed id 19224584)^{1, 2, 9} Tomatsu S.... Sly W.S. (2009)
Molecular analysis of a patient with hydrops fetalis caused by beta- glucuronidase deficiency, and evidence for additional pseudogenes. (PubMed id 8111412)^{1, 2, 9} Vervoort R.... Liebaers I. (1993)
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. (PubMed id 12522561)^{1, 2, 9} Storch S.... Braulke T. (2003)
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. (PubMed id 8644704)^{1, 2, 9} Vervoort R.... Lissens W. (1996)
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. (PubMed id 8111413)^{1, 2, 9} Wu B.M. and Sly W.S. (1993)
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. (PubMed id 7680524)^{1, 2, 9} Shipley J.M....Sly W.S. (1993)
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. (PubMed id 1702266)^{1, 2, 9} Tomatsu S.... Orii T. (1991)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)

(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: 2990	HGNC: 4696	AceView: GUSB	Ensembl:ENSG00000169919	euGenes: HUgn2990
ECgene: GUSB	Kegg: 2990	H-InvDB: GUSB

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

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

About This Section

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

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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Advanced Cell Diagnostics
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GUSB Gene

glucuronidase, beta

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