Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22901
Gene name Gene Name - the full gene name approved by the HGNC.	Arylsulfatase G
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ARSG
Synonyms (NCBI Gene) Gene synonyms aliases	USH4
Disease Acronyms (UniProt) Disease acronyms from UniProt database	USH4
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IBA	21873635
GO:0004065	Function	Arylsulfatase activity	IDA	18283100
GO:0004065	Function	Arylsulfatase activity	IDA	12461688
GO:0004065	Function	Arylsulfatase activity	TAS	16174644
GO:0005615	Component	Extracellular space	IDA	18283100
GO:0005764	Component	Lysosome	IDA	18283100
GO:0005783	Component	Endoplasmic reticulum	IDA	12461688
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006790	Process	Sulfur compound metabolic process	IDA	18283100
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
610008	24102	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

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Glycosphingolipid metabolism The activation of arylsulfatases

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Neuronal ceroid lipofuscinosis	Neuronal Ceroid-Lipofuscinoses	rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955 View all (397 more)	25452429
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)
Usher syndrome	Usher Syndrome, Usher Syndrome, Type III, USHER SYNDROME, TYPE IV, Usher syndrome type 3	rs80338903, rs397518008, rs111033367, rs121912598, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs137852839, rs137852840, rs2133130286, rs104894651 View all (734 more)	29300381, 22689975

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Mental depression	Depressive disorder	ClinVar
Usher Syndrome	Usher syndrome, type 4, Usher syndrome type 3	GenCC
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
Atrophy	Associate	29300381, 33629623
Cardiovascular Diseases	Associate	37828521
Deaf Blind Disorders	Associate	29300381
Dystonia	Associate	31731261
Hearing Loss Sensorineural	Associate	29300381, 33629623
Hypoalphalipoproteinemias	Associate	34223797
Pancreatic Neoplasms	Associate	35077391
Retinitis	Associate	33629623
Retinitis Pigmentosa	Associate	33629623
Scotoma	Associate	29300381
Usher Syndrome Type IF	Associate	35226187
Usher Syndromes	Associate	29300381, 33629623, 35226187

ARSG (arylsulfatase G)