Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
411
Gene name Gene Name - the full gene name approved by the HGNC.
Arylsulfatase B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARSB
Synonyms (NCBI Gene) Gene synonyms aliases
ASB, G4S, MPS6
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysacchari
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs79970603 T>A,C Likely-pathogenic, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs118203938 C>A,T Pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs118203939 A>G Pathogenic, likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs118203940 A>G Pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs118203941 C>T Pathogenic, uncertain-significance Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023384 hsa-miR-122-5p Microarray 17612493
MIRT046570 hsa-miR-224-5p CLASH 23622248
MIRT036564 hsa-miR-941 CLASH 23622248
MIRT689020 hsa-miR-652-5p HITS-CLIP 23313552
MIRT689019 hsa-miR-3675-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003943 Function N-acetylgalactosamine-4-sulfatase activity IDA 19306108
GO:0003943 Function N-acetylgalactosamine-4-sulfatase activity IEA
GO:0004065 Function Arylsulfatase activity IEA
GO:0004065 Function Arylsulfatase activity TAS 2303452
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611542 714 ENSG00000113273
Protein
UniProt ID P15848
Protein name Arylsulfatase B (ASB) (EC 3.1.6.12) (N-acetylgalactosamine-4-sulfatase) (G4S)
Protein function Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous sys
PDB 1FSU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00884 Sulfatase 45 364 Sulfatase Family
Sequence
MGPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPPHLVFLLADDLGWNDV
GFHGSRIRTPHLDALAAGGVLLDNYYTQPLCTPSRSQLLTGRYQIRTGLQHQIIWPCQPS
CVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFDTYFGYLLGSEDYYSHER
CTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQS
VHEPLQVPEEYLKPYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTD
NGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVKNRELIHISDWLPTLVKL
ARGH
TNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNFVDSSPCPRNSMAPAKDDSSLP
EYSAFNTSVHAAIRHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRD
PEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDPKATGVWGPWM
Sequence length 533
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosaminoglycan degradation
Metabolic pathways
Lysosome
  Glycosphingolipid metabolism
The activation of arylsulfatases
CS/DS degradation
MPS VI - Maroteaux-Lamy syndrome
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mucopolysaccharidosis Mucopolysaccharidosis type 6, Mucopolysaccharidosis, type vi, severe rs766772376, rs1554088002, rs1554032090, rs746396210, rs1554069668, rs431905494, rs1554032153, rs1554079320, rs1554086417, rs1554069808, rs201101343, rs765711776, rs757061042, rs1554032094, rs1554079265
View all (105 more)
N/A
metachromatic leukodystrophy Metachromatic leukodystrophy rs1561197425, rs118203943, rs118203941 N/A
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.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Mental Depression Clinical depression N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 31660881
Alzheimer Disease Associate 19668339
Atherosclerosis Associate 28659610
Cardiomyopathies Associate 29667349
Carotid Artery Diseases Associate 28659610
Congenital Abnormalities Associate 31660881
Cystic Fibrosis Inhibit 22550062
Cystic Fibrosis Associate 40362587
Embolism Associate 28659610
Growth Disorders Associate 36611