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
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/img/js/lib/gene-explorer/