ARSG (arylsulfatase G)

Gene

• Entrez ID: 22901
• Gene name: Arylsulfatase G
• Gene symbol: ARSG
• Synonyms (NCBI Gene): USH4
• Chromosome: 17
• Chromosome location: 17q24.2
• Summary: The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1568445893	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046989	hsa-miR-218-5p	CLASH	23622248
MIRT801420	hsa-miR-154	CLIP-seq
MIRT801421	hsa-miR-3665	CLIP-seq
MIRT801422	hsa-miR-657	CLIP-seq
MIRT2176404	hsa-miR-3194-3p	CLIP-seq
MIRT2176405	hsa-miR-346	CLIP-seq
MIRT2176406	hsa-miR-4288	CLIP-seq
MIRT2176407	hsa-miR-592	CLIP-seq
MIRT2176408	hsa-miR-597	CLIP-seq
MIRT2176409	hsa-miR-632	CLIP-seq
MIRT2176410	hsa-miR-654-3p	CLIP-seq
MIRT2176411	hsa-miR-767-3p	CLIP-seq
MIRT2479648	hsa-miR-1207-3p	CLIP-seq
MIRT2479649	hsa-miR-124	CLIP-seq
MIRT2479650	hsa-miR-2115	CLIP-seq
MIRT2479651	hsa-miR-218	CLIP-seq
MIRT2479652	hsa-miR-3126-5p	CLIP-seq
MIRT2479653	hsa-miR-3145-5p	CLIP-seq
MIRT2479654	hsa-miR-3615	CLIP-seq
MIRT2479655	hsa-miR-3714	CLIP-seq
MIRT2479656	hsa-miR-3910	CLIP-seq
MIRT2479657	hsa-miR-4660	CLIP-seq
MIRT2479658	hsa-miR-4738-5p	CLIP-seq
MIRT2479659	hsa-miR-4779	CLIP-seq
MIRT2479660	hsa-miR-506	CLIP-seq
MIRT2479661	hsa-miR-516a-3p	CLIP-seq
MIRT2479662	hsa-miR-636	CLIP-seq
MIRT2479663	hsa-miR-765	CLIP-seq
MIRT2479648	hsa-miR-1207-3p	CLIP-seq
MIRT2479649	hsa-miR-124	CLIP-seq
MIRT2479650	hsa-miR-2115	CLIP-seq
MIRT2479651	hsa-miR-218	CLIP-seq
MIRT2479653	hsa-miR-3145-5p	CLIP-seq
MIRT2479655	hsa-miR-3714	CLIP-seq
MIRT2479656	hsa-miR-3910	CLIP-seq
MIRT2479657	hsa-miR-4660	CLIP-seq
MIRT2479658	hsa-miR-4738-5p	CLIP-seq
MIRT2479660	hsa-miR-506	CLIP-seq
MIRT2479661	hsa-miR-516a-3p	CLIP-seq
MIRT2479662	hsa-miR-636	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IBA
GO:0004065	Function	Arylsulfatase activity	IDA	12461688
GO:0004065	Function	Arylsulfatase activity	IDA	18283100
GO:0004065	Function	Arylsulfatase activity	IMP	29300381
GO:0004065	Function	Arylsulfatase activity	TAS	16174644
GO:0005615	Component	Extracellular space	IDA	18283100
GO:0005764	Component	Lysosome	IDA	18283100
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	12461688
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006790	Process	Sulfur compound metabolic process	IDA	18283100
GO:0007040	Process	Lysosome organization	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0033889	Function	N-sulfoglucosamine-3-sulfatase activity	IDA	22689975
GO:0033889	Function	N-sulfoglucosamine-3-sulfatase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA

Other IDs

• MIM: 610008
• HGNC: 24102
• e!Ensembl: ENSG00000141337

Protein

• UniProt ID: Q96EG1
• Protein name: Arylsulfatase G (ASG) (EC 3.1.6.1) (N-sulfoglucosamine-3-sulfatase) (EC 3.1.6.15)
• Protein function: Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate (PubMed:18283100, PubMed:29300381). Ca
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00884	Sulfatase	36 → 378	Sulfatase	Family
  PF14707	Sulfatase_C	401 → 522		Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with very low expression in brain, lung, heart and skeletal muscle. {ECO:0000269|PubMed:12461688, ECO:0000269|PubMed:18283100, ECO:0000269|PubMed:29300381}.
• Sequence:

  MGWLFLKVLLAGVSFSGFLYPLVDFCISGKTRGQKPNFVIILADDMGWGDLGANWAETKD
  TANLDKMASEGMRFVDFHAAASTCSPSRASLLTGRLGLRNGVTRNFAVTSVGGLPLNETT
  LAEVLQQAGYVTGIIGKWHLGHHGSYHPNFRGFDYYFGIPYSHDMGCTDTPGYNHPPCPA
  CPQGDGPSRNLQRDCYTDVALPLYENLNIVEQPVNLSSLAQKYAEKATQFIQRASTSGRP
  FLLYVALAHMHVPLPVTQLPAAPRGRSLYGAGLWEMDSLVGQIKDKVDHTVKENTFLWFT
  GDNGPWAQKCELAGSVGPFTGFWQTRQGGSPAKQTTWEGGHRVPALAYWPGRVPVNVTST
  ALLSVLDIFPTVVALAQASLPQGRRFDGVDVSEVLFGRSQPGHRVLFHPNSGAAGEFGAL
  QTVRLERYKAFYITGGARACDGSTGPELQHKFPLIFNLEDDTAEAVPLERGGAEYQAVLP
  EVRKVLADVLQDIANDNISSADYTQDPSVTPCCNPYQIACRCQAA

• Sequence length: 525

Pathways

KEGG:

Lysosome

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Usher syndrome	Pathogenic	rs1568445893	RCV001002872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome, type 4	Likely pathogenic; Pathogenic	rs761100309, rs751663413, rs1302913513, rs2509555531, rs200685916, rs1253942262, rs2510614539, rs1568445893, rs751461705, rs1244718647	RCV005866939 RCV001375496 RCV002284019 RCV003322646 RCV003322647 RCV003322648 RCV004586417 RCV000710003 RCV001281078 RCV001281350	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARSG-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME TYPE 3	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IV	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	29300381, 33629623	Associate	★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	BEFREE	30656493		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37828521	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	31731261	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	30100364, 31731261		★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	BEFREE	30656493		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29300381, 33629623	Associate	★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	34223797	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27550944		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27550944		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	BEFREE	25452429		★☆☆☆☆ Found in Text Mining only
Musician`s Dystonia	Musician`s Dystonia	GWASDB_DG	24375517		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	20679209		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	GENOMICS_ENGLAND_DG	25452429		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35077391	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	27550944		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	33629623	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	29300381		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher Syndrome	Usher Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 3	Usher Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome Type IF	Usher syndrome	Pubtator	35226187	Associate	★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type III	Usher Syndrome	ORPHANET_DG	29300381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IV	Usher Syndrome	GENOMICS_ENGLAND_DG	22689975, 29300381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IV	Usher Syndrome	UNIPROT_DG	29300381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IV	Usher Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndromes	Usher syndrome	Pubtator	29300381, 33629623, 35226187	Associate	★☆☆☆☆ Found in Text Mining only