IDS (iduronate 2-sulfatase)

2016-10-01  

Identity

HGNC
IDS
LOCATION
Xq28
LOCUSID
3423
ALIAS
ID2S,MPS2,SIDS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3423
MIM: 300823
HGNC: 5389
Ensembl: ENSG00000010404

Variants:

dbSNP: 3423
ClinVar: 3423
TCGA: ENSG00000010404
COSMIC: IDS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000010404ENST00000340855P22304
ENSG00000010404ENST00000370441P22304
ENSG00000010404ENST00000428056O60597
ENSG00000010404ENST00000464251H0YB91
ENSG00000010404ENST00000466323P22304
ENSG00000010404ENST00000521702E5RHJ1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
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
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Dermatan sulfate degradationKEGGhsa_M00076
Heparan sulfate degradationKEGGhsa_M00078
Dermatan sulfate degradationKEGGM00076
Heparan sulfate degradationKEGGM00078
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG degradationREACTOMER-HSA-2024096
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
CS/DS degradationREACTOMER-HSA-2024101

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
359168092022Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.1
359168092022Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.1
332902902021Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?1
346701262021Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.1
348301132021Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.5
332902902021Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?1
346701262021Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.1
348301132021Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.5
320700512020Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.58
320700512020Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.58
306395822019Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.6
310294292019Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.3
306395822019Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.6
310294292019Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.3
281865952017[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].0

Citation

Dessen P

IDS (iduronate 2-sulfatase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56288