ARSG (arylsulfatase G)

2014-11-01  

Identity

HGNC
ARSG
LOCATION
17q24.2
LOCUSID
22901
ALIAS
USH4
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
199600302010Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts.22
199600302010Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts.22
182831002008Arylsulfatase G, a novel lysosomal sulfatase.18
124616882002Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).11
251356422014Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.9
243755172014Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?8
258251262015Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.8
293003812018A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.2
306564932019Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.0

Citation

Dessen P

ARSG (arylsulfatase G)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60535/arsg