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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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

Show/Hide all (40)

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

Show/Hide all (21)

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

MIM	HGNC	e!Ensembl
610008	24102	ENSG00000141337

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Usher syndrome	Pathogenic	rs1568445893	RCV001002872
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

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs114213345	RCV005924821
ARSG-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs150832014, rs149016526, rs144673801, rs139410112, rs767796353, rs186474907, rs111630893, rs62638719, rs147264809, rs199774302, rs201163789, rs570412060, rs759418577, rs761398056, rs374705157 View all (7 more)	RCV003963215 RCV003908576 RCV004756239 RCV003953814 RCV003948475 RCV003966124 RCV003931090 RCV003940909 RCV003394296 RCV003892982 RCV003941294 RCV003898811 RCV004756418 RCV003949063 RCV003944330 RCV003913270 RCV003943006 RCV003928470 RCV003975504 RCV003912952 RCV003916140 RCV004756162
Cervical cancer	Benign	rs8074806	RCV005905178
Familial cancer of breast	Benign	rs1558876	RCV005914286
Sarcoma	Benign	rs8074806	RCV005905179
Uterine carcinosarcoma	Benign	rs8074806	RCV005905180

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)