Gene Gene information from NCBI Gene database.
Entrez ID 411
Gene name Arylsulfatase B
Gene symbol ARSB
Synonyms (NCBI Gene)
ASBG4SMPS6
Chromosome 5
Chromosome location 5q14.1
Summary 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.
125
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.
581
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611542 714 ENSG00000113273
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ARSB-related disorder Likely pathogenic; Pathogenic rs1561197865, rs118203943, rs727503809, rs751010538 RCV004754748
RCV003904792
RCV003415996
RCV003392515
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metachromatic leukodystrophy Likely pathogenic; Pathogenic rs118203941, rs118203943, rs1561197425 RCV000779751
RCV000779747
RCV000779749
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis type 6 Likely pathogenic; Pathogenic rs1752333074, rs1160897474, rs1234650208, rs2112529559, rs1180759765, rs200712296, rs1561197865, rs2112583121, rs1349838988, rs1751669303, rs2112530008, rs969231209, rs2112617391, rs771296632, rs2112580593
View all (180 more)
RCV001378854
RCV001380105
RCV001384061
RCV001387236
RCV001384500
View all (218 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, type vi, severe Likely pathogenic; Pathogenic rs118203939, rs118203941, rs431905493, rs431905494 RCV000000926
RCV000000928
RCV000000929
RCV000000930
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations