IDS

Chr XXLR

iduronate 2-sulfatase

Also known as: ID2S, MPS2, SIDS

This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

GeneReviewsOMIMResearchGenerating clinical summary…
LOFmechanismXLRLOEUF 0.181 OMIM phenotype
Clinical SummaryIDS
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Gene-Disease Validity (ClinGen)
mucopolysaccharidosis type 2 · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available
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GeneReview available — IDS
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.18LOEUF
pLI 0.996
Z-score 3.77
OE 0.00 (0.000.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.58Z-score
OE missense 0.71 (0.620.81)
162 obs / 229.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.18)
00.351.4
Missense OE?0.71 (0.620.81)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 0 / 16.6Missense obs/exp: 162 / 229.3Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IDS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Mucopolysaccharidosis Type II (MPS II)

CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)

ACTIVE NOT RECRUITING
NCT03566043Phase PHASE2, PHASE3REGENXBIO Inc.Started 2018-09-27
RGX-121
MPS IIHunter Syndrome (MPS II)

RGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome)

ACTIVE NOT RECRUITING
NCT07236606Phase PHASE3REGENXBIO Inc.Started 2025-11-25
RGX-121-3102
Hemophilia A

Study to Evaluate the Efficacy and Safety of PF-07055480 / Giroctocogene Fitelparvovec Gene Therapy in Moderately Severe to Severe Hemophilia A Adults

ACTIVE NOT RECRUITING
NCT04370054Phase PHASE3PfizerStarted 2020-08-18
PF-07055480 (giroctocogene fitelparovec): Recombinant AAV2/6 Human Factor VIII Gene Therapy
Epilepsy

Precision Medicine in the Treatment of Epilepsy

RECRUITING
NCT05450822Gitte Moos KnudsenStarted 2022-02-18
LevetiracetamLevetiracetam TabletsLamotrigine tablet
Mucopolysaccharidosis II

Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type II

ACTIVE NOT RECRUITING
NCT05665166Phase PHASE1, PHASE2University of ManchesterStarted 2023-06-01
Autologous CD34+ HSCs transduced ex vivo with CD11B LV encoding human IDS tagged with ApoEII
Ovarian CancerFallopian Tube CancerPeritoneal Cancer

Microdevice In Ovarian, Fallopian Tube, And Peritoneal Cancer

RECRUITING
NCT04701645Phase PHASE1Brigham and Women's HospitalStarted 2022-11-01
Microdevice
Mucopolysaccharidosis II

An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007

ENROLLING BY INVITATION
NCT06075537Phase PHASE2, PHASE3Denali Therapeutics Inc.Started 2023-09-20
tividenofusp alfa
Hemophilia B

A Study to Evaluate the Efficacy and Safety of Factor IX Gene Therapy With PF-06838435 in Adult Males With Moderately Severe to Severe Hemophilia B

ACTIVE NOT RECRUITING
NCT03861273Phase PHASE3PfizerStarted 2019-07-29
PF-06838435/ fidanacogene elaparvovec
Pancreatic CancerPancreatic Ductal AdenocarcinomaPDAC

A Prospective Registry for Patients at High-Risk for Pancreatic Cancer

RECRUITING
NCT06151223Mayo ClinicStarted 2021-07-13
Bio-specimen Collection: BloodBio-specimen Collection: Pancreatic JuiceMRI
Fallopian Tube Endometrioid AdenocarcinomaFallopian Tube High Grade Serous AdenocarcinomaOvarian Endometrioid Adenocarcinoma

Testing the Addition of Ipatasertib to the Usual Chemotherapy Treatment (Paclitaxel and Carboplatin) for Stage III or IV Epithelial Ovarian Cancer

ACTIVE NOT RECRUITING
NCT05276973Phase PHASE1National Cancer Institute (NCI)Started 2022-09-08
BiopsyCarboplatinIpatasertib
Carcinoma, Pancreatic DuctalColorectal NeoplasmsCarcinoma, Non-Small-Cell Lung

A Study to Learn About the Study Medicine PF-07934040 When Given Alone or With Other Anti-cancer Therapies in People With Advanced Solid Tumors That Have a Genetic Mutation.

RECRUITING
NCT06447662Phase PHASE1PfizerStarted 2024-06-27
PF-07934040GemcitabineNab-paclitaxel
Chronic Rhinosinusitis (Diagnosis)

Topical Probiotic Sinus Irrigations for Treating Chronic Sinusitis

RECRUITING
NCT05427695Phase PHASE2University of Illinois at ChicagoStarted 2025-02-05
Lactobacillus sakei proBio65Isotonic Saline Solution