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Aliases for GUSB Gene

Aliases for GUSB Gene

  • Glucuronidase Beta 2 3 5
  • EC 3.2.1.31 4 56
  • Beta-G1 3 4
  • Beta-D-Glucuronidase 3
  • Glucuronidase, Beta 2
  • Beta-Glucuronidase 3
  • MPS7 3
  • BG 3

External Ids for GUSB Gene

Previous GeneCards Identifiers for GUSB Gene

  • GC07M064065
  • GC07M064823
  • GC07M064837
  • GC07M064869
  • GC07M065064
  • GC07M065425
  • GC07M061613

Summaries for GUSB Gene

Entrez Gene Summary for GUSB 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 mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]

GeneCards Summary for GUSB Gene

GUSB (Glucuronidase Beta) is a Protein Coding gene. Diseases associated with GUSB include Mucopolysaccharidosis, Type Vii and Hydrops Fetalis. Among its related pathways are Glycosaminoglycan metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include receptor binding and hydrolase activity, hydrolyzing O-glycosyl compounds.

UniProtKB/Swiss-Prot for GUSB Gene

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

Gene Wiki entry for GUSB Gene

Additional gene information for GUSB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUSB Gene

Genomics for GUSB Gene

GeneHancer (GH) Regulatory Elements for GUSB Gene

Promoters and enhancers for GUSB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I065980 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.9 +0.6 617 2.9 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 GUSB ENSG00000229180 RABGEF1 LOC100420547 TMEM248 VKORC1L1 PIR55112 GC07P065962
GH07I065373 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.4 +608.1 608059 2.1 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 FOS SP3 ZNF92 GTF2IP14 GUSB CCT6P1 ZNF107 CCT6P3 ERV3-1 ENSG00000238124
GH07I066098 Enhancer 1.2 Ensembl ENCODE 22 -117.6 -117583 2.6 HDGF PKNOX1 CLOCK ARNT SIN3A ZNF2 ZBTB7B POLR2B E2F8 ZNF143 LOC100996437 LOC100420547 VKORC1L1 ENSG00000229180 TMEM248 CCT6P1 GUSB GS1-124K5.4 TYW1 RABGEF1
GH07I066113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12 -132.8 -132791 2.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CRCP LOC100996437 VKORC1L1 GS1-124K5.4 LOC100420547 ENSG00000229180 TMEM248 CCT6P1 ENSG00000244657 GUSB
GH07I066930 Enhancer 0.9 ENCODE 14.3 -948.2 -948165 0.2 PKNOX1 ATF1 ARNT NEUROD1 SIN3A GATA2 SP3 ZNF610 GMEB1 ZNF184 LOC100420547 ENSG00000229180 GUSB TMEM248 TYW1 ENSG00000244657 RN7SL43P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GUSB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GUSB gene promoter:

Genomic Locations for GUSB Gene

Genomic Locations for GUSB Gene
chr7:65,960,684-65,982,314
(GRCh38/hg38)
Size:
21,631 bases
Orientation:
Minus strand
chr7:65,425,671-65,447,301
(GRCh37/hg19)

Genomic View for GUSB Gene

Genes around GUSB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUSB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUSB Gene

Proteins for GUSB Gene

  • Protein details for GUSB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08236-BGLR_HUMAN
    Recommended name:
    Beta-glucuronidase
    Protein Accession:
    P08236
    Secondary Accessions:
    • B4E1F6
    • E9PCV0
    • Q549U0
    • Q96CL9

    Protein attributes for GUSB Gene

    Size:
    651 amino acids
    Molecular mass:
    74732 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for GUSB Gene

    Alternative splice isoforms for GUSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GUSB Gene

Selected DME Specific Peptides for GUSB Gene

P08236:
  • LWWPYLMHE
  • FLINGKPFYF
  • GWVWYERE
  • DFFNYAG
  • QKPIIQSEYGA
  • SKYPKGYF
  • YIDDITVTT
  • TLPPGTI
  • PAYLYSLEV
  • VVMWSVANEP
  • PKSAAFLL
  • GELIWNFADFMT
  • KDFNLLRWLGAN

Post-translational modifications for GUSB Gene

  • N-linked glycosylated with 3 to 4 oligosaccharide chains.
  • Ubiquitination at posLast=3939 and isoforms=2, 3641
  • Glycosylation at isoforms=2173, isoforms=2272, posLast=420420, and posLast=631631
  • Modification sites at PhosphoSitePlus

Domains & Families for GUSB Gene

Gene Families for GUSB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GUSB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08236

UniProtKB/Swiss-Prot:

BGLR_HUMAN :
  • Belongs to the glycosyl hydrolase 2 family.
Family:
  • Belongs to the glycosyl hydrolase 2 family.
genes like me logo Genes that share domains with GUSB: view

Function for GUSB Gene

Molecular function for GUSB Gene

GENATLAS Biochemistry:
glucuronidase,beta-,lysosomal,acting on dermatan sulfate,heparan sulfate,catalyzing the fifth step of degradation of glucosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity:
A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by L-aspartic acid.
UniProtKB/Swiss-Prot Function:
Plays an important role in the degradation of dermatan and keratan sulfates.

Enzyme Numbers (IUBMB) for GUSB Gene

Phenotypes From GWAS Catalog for GUSB Gene

Gene Ontology (GO) - Molecular Function for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IBA --
GO:0004566 beta-glucuronidase activity TAS --
GO:0005102 receptor binding IPI 20028034
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GUSB: view
genes like me logo Genes that share phenotypes with GUSB: view

Human Phenotype Ontology for GUSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for GUSB Gene

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GUSB Gene

Localization for GUSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUSB Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUSB gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
peroxisome 1
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 25645918
GO:0005764 lysosome IBA --
GO:0016020 membrane IDA,HDA 19946888
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with GUSB: view

Pathways & Interactions for GUSB Gene

genes like me logo Genes that share pathways with GUSB: view

Gene Ontology (GO) - Biological Process for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS,IEA --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0030214 hyaluronan catabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GUSB: view

No data available for SIGNOR curated interactions for GUSB Gene

Drugs & Compounds for GUSB Gene

(86) Drugs for GUSB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Niraparib Approved, Investigational Pharma Enzyme, substrate PARP inhibitor, PARP Inhibitors 33
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
Water Approved Pharma 0
1-Butanol Experimental Pharma 0

(156) Additional Compounds for GUSB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetaminophen glucuronide
  • 4-(Acetylamino)phenyl beta-D-glucopyranosiduronic acid
  • 4-(Acetylamino)phenyl beta-delta-glucopyranosiduronic acid
  • 4-Acetamidophenol glucuronide
  • 4-Acetamidophenyl b-D-glucopyranosiduronic acid
  • 4-Acetamidophenyl b-delta-glucopyranosiduronic acid
16110-10-4
bilirubin diglucuronide
  • (2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylate
  • (2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylic acid
  • Bilirubin beta-diglucuronide
  • Bilirubin-bisglucuronoside
  • Bis(glucosyluronic acid)bilirubin
17459-92-6
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
SN38 glucuronide
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-D-glucuronide
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-delta-glucuronide
genes like me logo Genes that share compounds with GUSB: view

Transcripts for GUSB Gene

Unigene Clusters for GUSB Gene

Glucuronidase, beta:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUSB Gene

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: - - -
SP6: -
SP7: - -
SP8: -
SP9: - - - -
SP10: - - - - -
SP11: -
SP12:
SP13: - - - -
SP14: - - - - - - - - -
SP15: - - - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - -
SP17: - - - - - - - - - - - - - - -

ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - - -
SP16:
SP17:

Relevant External Links for GUSB Gene

GeneLoc Exon Structure for
GUSB
ECgene alternative splicing isoforms for
GUSB

Expression for GUSB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GUSB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GUSB Gene

This gene is overexpressed in Testis (11.6), Liver (8.2), and Urine (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GUSB Gene



Protein tissue co-expression partners for GUSB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GUSB Gene:

GUSB

SOURCE GeneReport for Unigene cluster for GUSB Gene:

Hs.255230

Evidence on tissue expression from TISSUES for GUSB Gene

  • Lung(4.8)
  • Intestine(4.7)
  • Liver(4.7)
  • Bone marrow(4.5)
  • Nervous system(4.5)
  • Blood(3.3)
  • Kidney(3.3)
  • Spleen(2.7)
  • Skin(2.4)
  • Urine(2.4)
  • Heart(2.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUSB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • lymph node
  • lymph vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GUSB: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GUSB Gene

Orthologs for GUSB Gene

This gene was present in the common ancestor of animals.

Orthologs for GUSB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUSB 33 34
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia GUSB 33 34
  • 83.9 (n)
dog
(Canis familiaris)
Mammalia GUSB 33 34
  • 82.92 (n)
rat
(Rattus norvegicus)
Mammalia Gusb 33
  • 78.05 (n)
mouse
(Mus musculus)
Mammalia Gusb 33 16 34
  • 77.79 (n)
oppossum
(Monodelphis domestica)
Mammalia GUSB 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUSB 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUSB 33 34
  • 69.19 (n)
lizard
(Anolis carolinensis)
Reptilia GUSB 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gusb 33
  • 64.29 (n)
Str.15952 33
zebrafish
(Danio rerio)
Actinopterygii GUSB (1 of 2) 34
  • 66 (a)
OneToMany
gusb 33 34
  • 65.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011859 33
  • 54.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15117 35 33 34
  • 54.53 (n)
CG2135 35 34
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8B.9 33
  • 49.97 (n)
Y105E8B.9 35 34
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToOne
Species where no ortholog for GUSB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUSB Gene

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

Paralogs for GUSB Gene

No data available for Paralogs for GUSB Gene

Variants for GUSB Gene

Sequence variations from dbSNP and Humsavar for GUSB Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1061361 benign, likely-benign, not specified, Mucopolysaccharidosis type VII 65,964,372(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1085307069 uncertain-significance, Mucopolysaccharidosis type VII 65,961,019(-) G/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs121918172 pathogenic, Mucopolysaccharidosis type VII, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,960,997(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918173 pathogenic, likely-pathogenic, Mucopolysaccharidosis type VII, Non-immune hydrops fetalis, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,974,626(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918174 pathogenic, Mucopolysaccharidosis type VII, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,979,477(-) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for GUSB Gene

Variant ID Type Subtype PubMed ID
esv21527 CNV gain 19812545
esv2664145 CNV deletion 23128226
esv2761079 CNV gain+loss 21179565
esv3613492 CNV gain 21293372
esv3613493 CNV gain 21293372
nsv1028971 CNV gain 25217958
nsv981505 CNV duplication 23825009

Variation tolerance for GUSB Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GUSB Gene

Human Gene Mutation Database (HGMD)
GUSB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUSB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUSB Gene

Disorders for GUSB Gene

MalaCards: The human disease database

(19) MalaCards diseases for GUSB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis, type vii
  • mps7
hydrops fetalis
  • familial non-immune hydrops fetalis
lysosomal storage disease
  • disorder of lysosomal enzyme
necrotizing ulcerative gingivitis
  • acute necrotising ulcerative gingivitis
choledocholithiasis
- elite association - COSMIC cancer census association via MalaCards
Search GUSB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BGLR_HUMAN
  • Mucopolysaccharidosis 7 (MPS7) [MIM:253220]: 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. {ECO:0000269 PubMed:12522561, ECO:0000269 PubMed:12859417, ECO:0000269 PubMed:1702266, ECO:0000269 PubMed:7573038, ECO:0000269 PubMed:7633414, ECO:0000269 PubMed:7680524, ECO:0000269 PubMed:8089138, ECO:0000269 PubMed:8111412, ECO:0000269 PubMed:8111413, ECO:0000269 PubMed:8644704, ECO:0000269 PubMed:8707294, ECO:0000269 PubMed:9099834, ECO:0000269 PubMed:9490302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GUSB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GUSB: view

No data available for Genatlas for GUSB Gene

Publications for GUSB Gene

  1. Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample. (PMID: 16272959) Gratz M … Kroemer HK (Pharmacogenetics and genomics 2005) 3 22 44 58
  2. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. (PMID: 12522561) Storch S … Braulke T (Human genetics 2003) 3 4 22 58
  3. Cloning, sequencing, and expression of cDNA for human beta-glucuronidase. (PMID: 3468507) Oshima A … Gravel RA (Proceedings of the National Academy of Sciences of the United States of America 1987) 2 3 4 58
  4. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). (PMID: 19224584) Tomatsu S … Sly WS (Human mutation 2009) 3 4 58
  5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 58

Products for GUSB Gene

Sources for GUSB Gene

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