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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARSG
arylsulfatase G
Chromosome 17 Β· 17q24.2
NCBI Gene: 22901Ensembl: ENSG00000141337.13HGNC: HGNC:24102UniProt: J9JIG6
27PubMed Papers
21Diseases
0Drugs
44Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
arylsulfatase activityN-sulfoglucosamine-3-sulfatase activitysulfur compound metabolic processGO:0005615Usher syndrome, type 4neurodegenerative diseaseUsher syndrome type 3Usher syndrome
✦AI Summary

ARSG (arylsulfatase G) is a lysosomal sulfatase enzyme that plays a critical role in heparan sulfate degradation. The protein consists of 525 amino acids with high sequence similarity to other arylsulfatases, particularly arylsulfatase A, and contains conserved catalytic site amino acids 1. ARSG specifically catalyzes the hydrolysis of 3-O-sulfate groups from N-sulfo-D-glucosamine 3-O-sulfate units within heparan sulfate during lysosomal degradation 2. The enzyme localizes to the endoplasmic reticulum as a 70 kDa mature glycosylated protein and shows ubiquitous expression 1. Pathogenic variants in ARSG cause Usher syndrome type IV, a rare form of deafblindness characterized by late-onset retinitis pigmentosa with pericentral and macular changes, and progressive sensorineural hearing loss without vestibular dysfunction 34. Functional studies demonstrate that disease-causing mutations result in complete loss of sulfatase enzymatic activity 34. The sequential action of ARSG with other sulfatases is essential for proper lysosomal catabolism of sulfated heparan sulfate 2. Additionally, genetic variants in ARSG have been associated with blood pressure regulation in Korean populations 5.

Sources cited
1
ARSG protein structure, localization to ER, and sequence similarity to other arylsulfatases
PMID: 12461688
2
ARSG catalyzes hydrolysis of 3-O-sulfate groups in heparan sulfate degradation pathway
PMID: 34405855
3
Pathogenic ARSG variants cause Usher syndrome type IV with specific clinical features
PMID: 39199020
4
Mutant ARSG proteins show loss of sulfatase activity in functional experiments
PMID: 35226187
5
Genetic variants in ARSG associated with blood pressure regulation
PMID: 19960030
Disease Associationsβ“˜21
Usher syndrome, type 4Open Targets
0.67Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
Usher syndrome type 3Open Targets
0.37Weak
Usher syndromeOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.18Weak
Retinal dystrophyOpen Targets
0.14Weak
Limb dystoniaOpen Targets
0.10Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
progressive non-fluent aphasiaOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.03Suggestive
mucopolysaccharidosis type 3Open Targets
0.02Suggestive
DystoniaOpen Targets
0.02Suggestive
preeclampsiaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Hyperplastic PolypOpen Targets
0.02Suggestive
neuronal ceroid lipofuscinosisOpen Targets
0.02Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2DOpen Targets
0.01Suggestive
AtaxiaOpen Targets
0.01Suggestive
muscular dystrophyOpen Targets
0.01Suggestive
mucopolysaccharidosisOpen Targets
0.01Suggestive
Usher syndrome 4UniProt
Pathogenic Variants44
NM_001267727.2(ARSG):c.983-2_983-1delPathogenic
not provided|Usher syndrome, type 4
β˜…β˜…β˜†β˜†2025
NM_001267727.2(ARSG):c.1261C>T (p.Gln421Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 421
NM_001267727.2(ARSG):c.704+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001267727.2(ARSG):c.1005dup (p.Thr336fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 336
NM_001267727.2(ARSG):c.970C>T (p.Gln324Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 324
NM_001267727.2(ARSG):c.701dup (p.Ser235fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 235
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)Likely pathogenic
not provided|Usher syndrome, type 4
β˜…β˜†β˜†β˜†2025β†’ Residue 85
NM_001267727.2(ARSG):c.829dup (p.Asp277fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 277
NM_001267727.2(ARSG):c.91del (p.Thr31fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 31
NM_001267727.2(ARSG):c.969del (p.Trp323fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 323
NM_001267727.2(ARSG):c.283C>T (p.Arg95Trp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 95
NM_001267727.2(ARSG):c.687del (p.Gln229fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 229
NM_001267727.2(ARSG):c.566+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001267727.2(ARSG):c.407-2A>CLikely pathogenic
Usher syndrome, type 4
β˜…β˜†β˜†β˜†2024
NM_001267727.2(ARSG):c.1046G>A (p.Trp349Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 349
NM_001267727.2(ARSG):c.1326del (p.Ser443fs)Pathogenic
Usher syndrome, type 4|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 443
NM_001267727.2(ARSG):c.1267del (p.Val423fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 423
NM_001267727.2(ARSG):c.1303+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001267727.2(ARSG):c.1276G>T (p.Glu426Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 426
NM_001267727.2(ARSG):c.390C>A (p.Tyr130Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 130
View on ClinVar β†—
Related Genes
SUOXShared pathway100%SQORShared pathway100%SUMF1Protein interaction96%ARSAProtein interaction92%ARSBProtein interaction92%ARSKProtein interaction83%
Tissue Expression6 tissues
Heart
100%
Ovary
66%
Lung
54%
Bone Marrow
51%
Liver
39%
Brain
31%
Gene Interaction Network
Click a node to explore
ARSGSUOXSQORSUMF1ARSAARSBARSK
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q96EG1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.57–1.00]
RankingsWhere ARSG stands among ~20K protein-coding genes
  • #12,510of 20,598
    Most Researched27
  • #1,453of 5,498
    Most Pathogenic Variants44
  • #9,600of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedARSG
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).
PMID: 12461688
Eur J Hum Genet Β· 2002
1.00
2
Loci for insulin processing and secretion provide insight into type 2 diabetes risk.
PMID: 36693378
Am J Hum Genet Β· 2023
0.90
3
Co-activation patterns during viewing of different video game genres.
PMID: 38710311
Brain Res Bull Β· 2024
0.80
4
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
PMID: 39199020
Clin Genet Β· 2025
0.70
5
Decoding the consecutive lysosomal degradation of 3-O-sulfate containing heparan sulfate by Arylsulfatase G (ARSG).
PMID: 34405855
Biochem J Β· 2021
0.60