ARSG Gene - Arylsulfatase G
Comprehensive genomic and functional analysis of ARSG, a sulfatase involved in lysosomal degradation and associated with Usher syndrome and cancer.
Gene Information Card
| Symbol | ARSG |
|---|---|
| Full Name | Arylsulfatase G |
| Gene Type | Protein coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 22901 ncbi.nlm.nih.gov/gene/22901 |
| Ensembl ID | ENSG00000141380 |
| UniProt ID | Q96EG1 |
| OMIM ID | 610009 |
| HGNC ID | 15896 |
| Aliases | UNQ612/PRO1208, FLJ22341 |
Description
ARSG encodes arylsulfatase G, a member of the sulfatase family that hydrolyzes sulfate esters in lysosomes. It is involved in the degradation of glycosaminoglycans and is associated with Usher syndrome type IV when mutated. The gene is also implicated in various cancers through somatic mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type IV | Loss-of-function mutations in ARSG disrupt lysosomal sulfatase activity, leading to progressive hearing loss and retinitis pigmentosa. | ClinVar, OMIM |
| Colorectal cancer | Somatic missense mutations (e.g., p.R92C) may alter enzyme function, contributing to tumorigenesis. | COSMIC |
| Lung cancer | Recurrent mutations in ARSG observed in adenocarcinoma samples, potential role in metabolic reprogramming. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Low |
| Testis | 6.7 | Medium |
| Thyroid | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.9 | Embryonic kidney |
| HeLa | 3.2 | Cervical cancer |
| A549 | 5.8 | Lung carcinoma |
| HepG2 | 2.7 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133C>T (p.R45*) | Nonsense | <0.01% | Loss of function; associated with Usher syndrome |
| c.274C>T (p.R92C) | Missense | 0.02% | Unknown; somatic in colorectal cancer |
| c.1015G>A (p.G339R) | Missense | <0.01% | Likely damaging; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ARSG cause complete loss of sulfatase activity, leading to lysosomal accumulation and Usher syndrome type IV.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARSG.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ARSG.
View complete mutation data：
Gene Ontology (GO)
| • sulfatase activity (GO:0008484) | • lysosome (GO:0005764) |
| • glycosaminoglycan catabolic process (GO:0006027) | • metal ion binding (GO:0046872) |
Pathways
• Lysosome (KEGG: hsa04142)
• Glycosaminoglycan degradation (KEGG: hsa00531)
Protein Summary
Arylsulfatase G is a 525-amino acid lysosomal enzyme that catalyzes the hydrolysis of sulfate esters from glycosaminoglycans. It contains a conserved sulfatase active site and requires post-translational modification to form a formylglycine residue for activity. Deficiency leads to lysosomal storage and Usher syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARSG Knockout HEK293 Cell Line | EDJ-KQ7733 | Human | 22901 | Details Get a Quote |
| ARSG Knockout HCT 116 Cell Line | EDJ-KQ33151 | Human | 22901 | Details Get a Quote |
| ARSG Knockout HeLa Cell Line | EDJ-KQ33152 | Human | 22901 | Details Get a Quote |
| ARSG Knockout A-549 Cell Line | EDJ-KQ64152 | Human | 22901 | Details Get a Quote |
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