ARSG (arylsulfatase G)

2014-11-01  

Identity

HGNC
LOCATION
17q24.2
LOCUSID
ALIAS
USH4
FUSION GENES

Other Information

Locus ID:

NCBI: 22901
MIM: 610008
HGNC: 24102
Ensembl: ENSG00000141337

Variants:

dbSNP: 22901
ClinVar: 22901
TCGA: ENSG00000141337
COSMIC: ARSG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141337ENST00000448504Q96EG1
ENSG00000141337ENST00000448504A0A024R8K1
ENSG00000141337ENST00000452479J9JIG6
ENSG00000141337ENST00000581639J3KS49
ENSG00000141337ENST00000621439Q96EG1
ENSG00000141337ENST00000621439A0A024R8K1

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
The activation of arylsulfatasesREACTOMER-HSA-1663150
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
333001742021New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.16
336296232021Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.5
342237972021Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.10
333001742021New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.16
336296232021Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.5
342237972021Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.10
306564932019Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.7
306564932019Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.7
293003812018A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.26
293003812018A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.26
258251262015Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.9
258251262015Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.9
243755172014Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?15
251356422014Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.13
243755172014Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?15

Citation

Dessen P

ARSG (arylsulfatase G)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60535/gene-fusions-explorer/gene-explorer/welcome