ARSK

Summary

ARSK (arylsulfatase family member K, HGNC:25239) is a protein-coding gene on chromosome 5q15, encoding Arylsulfatase K (Q6UWY0). Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate.

Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).

Source: NCBI Gene 153642 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mucopolysaccharidosis, type 10 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 95 total — 4 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 27
• MANE Select transcript: NM_198150

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25239
Approved symbol	ARSK
Name	arylsulfatase family member K
Location	5q15
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp313G1735, TSULF
Ensembl gene	ENSG00000164291
Ensembl biotype	protein_coding
OMIM	610011
Entrez	153642

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 3 nonsense_mediated_decay

ENST00000380009, ENST00000504763, ENST00000504873, ENST00000512106, ENST00000513814, ENST00000926177, ENST00000926178

RefSeq mRNA: 1 — MANE Select: NM_198150 NM_198150

CCDS: CCDS4073

Canonical transcript exons

ENST00000380009 — 8 exons

Exon	Start	End
ENSE00001083118	95565998	95566127
ENSE00001083123	95567890	95568049
ENSE00001483378	95603237	95605102
ENSE00002067718	95555101	95555404
ENSE00003552178	95591401	95591625
ENSE00003575028	95600847	95601071
ENSE00003628541	95582916	95583198
ENSE00003677135	95586562	95586733

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 93.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7858 / max 71.5713, expressed in 1740 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57621	4.8727	1572
57620	3.1068	1431
57622	1.8063	1104

Top tissues by expression

252 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	93.03	gold quality
buccal mucosa cell	CL:0002336	86.88	gold quality
sperm	CL:0000019	84.41	gold quality
stromal cell of endometrium	CL:0002255	82.95	gold quality
nipple	UBERON:0002030	82.60	gold quality
secondary oocyte	CL:0000655	82.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.06	gold quality
ventricular zone	UBERON:0003053	80.73	gold quality
cortical plate	UBERON:0005343	79.97	gold quality
adrenal tissue	UBERON:0018303	79.92	gold quality
islet of Langerhans	UBERON:0000006	79.42	gold quality
cerebellar vermis	UBERON:0004720	79.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.65	gold quality
cardia of stomach	UBERON:0001162	78.49	gold quality
inferior vagus X ganglion	UBERON:0005363	78.32	gold quality
vena cava	UBERON:0004087	78.27	silver quality
calcaneal tendon	UBERON:0003701	78.22	gold quality
body of tongue	UBERON:0011876	77.17	gold quality
subthalamic nucleus	UBERON:0001906	77.09	silver quality
ventral tegmental area	UBERON:0002691	77.06	gold quality
tongue	UBERON:0001723	77.05	gold quality
epithelium of nasopharynx	UBERON:0001951	76.95	gold quality
superior surface of tongue	UBERON:0007371	76.87	gold quality
dorsal plus ventral thalamus	UBERON:0001897	76.83	gold quality
pharyngeal mucosa	UBERON:0000355	76.78	gold quality
trigeminal ganglion	UBERON:0001675	76.78	gold quality
pericardium	UBERON:0002407	76.62	gold quality
trachea	UBERON:0003126	76.59	gold quality
mammary duct	UBERON:0001765	76.56	gold quality
dorsal root ganglion	UBERON:0000044	76.53	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	12.34
E-ANND-3	yes	5.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting ARSK, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055

Literature-anchored findings (GeneRIF, showing 3)

• The identification, molecular cloning and initial characterization of three new members of this human gene family is reported. (PMID:16500042)
• Arylsulfatase K, a novel lysosomal sulfatase. (PMID:23986440)
• Further characterization of ARSK-related mucopolysaccharidosis type 10. (PMID:38634625)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	arsk	ENSDARG00000059714
mus_musculus	Arsk	ENSMUSG00000021592
rattus_norvegicus	Arsk	ENSRNOG00000026937
drosophila_melanogaster	CG18278	FBGN0033836
drosophila_melanogaster	CG7408	FBGN0036765
drosophila_melanogaster	CG7402	FBGN0036768
drosophila_melanogaster	Sulf1	FBGN0040271
drosophila_melanogaster	CG32191	FBGN0052191
drosophila_melanogaster	CG30059	FBGN0260475
caenorhabditis_elegans		WBGENE00006308
caenorhabditis_elegans		WBGENE00006309

Paralogs (16): ARSD (ENSG00000006756), IDS (ENSG00000010404), ARSF (ENSG00000062096), ARSA (ENSG00000100299), STS (ENSG00000101846), ARSB (ENSG00000113273), GNS (ENSG00000135677), SULF1 (ENSG00000137573), GALNS (ENSG00000141012), ARSG (ENSG00000141337), ARSL (ENSG00000157399), ARSJ (ENSG00000180801), SGSH (ENSG00000181523), ARSI (ENSG00000183876), SULF2 (ENSG00000196562), ARSH (ENSG00000205667)

Protein

Protein identifiers

Arylsulfatase K — Q6UWY0 (reviewed: Q6UWY0)

Alternative names: Glucuronate-2-sulfatase, Telethon sulfatase

All UniProt accessions (5): Q6UWY0, D6R9F9, D6RBR4, E9PGI0, H0Y9F6

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate. Catalyzes the hydrolysis of the 2-sulfate groups of the 2-O-sulfo-D-glucuronate residues of chondroitin sulfate, heparin and heparitin sulfate. Acts selectively on 2-sulfoglucuronate and lacks activity against 2-sulfoiduronate.

Subcellular location. Secreted. Lysosome.

Tissue specificity. Expressed at high levels in the placenta and pancreas. Expressed at intermediate levels in the lung, brain, heart, liver and kidney and at low levels in the muscle.

Post-translational modifications. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. The 75-kDa precursor undergoes proteolytic processing to yield a 23 kDa form. N-glycosylated with both high mannose and complex type sugars.

Disease relevance. Mucopolysaccharidosis 10 (MPS10) [MIM:619698] A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS10 is an autosomal recessive childhood-onset disorder. Clinical features include disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 Ca(2+) ion per subunit.

Similarity. Belongs to the sulfatase family.

RefSeq proteins (1): NP_937793* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000917	Sulfatase_N	Domain
IPR017850	Alkaline_phosphatase_core_sf	Homologous_superfamily
IPR047892	ARSK	Family
IPR051849	GAG-degrading_sulfatase	Family

Pfam: PF00884

Enzyme classification (BRENDA):

• EC 3.1.6.1 — arylsulfatase (type I) (BRENDA: 49 organisms, 138 substrates, 159 inhibitors, 117 Km, 35 kcat entries)
• EC 3.1.6.18 — glucuronate-2-sulfatase (BRENDA: 3 organisms, 12 substrates, 14 inhibitors, 0 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

35 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
4-NITROPHENYL SULFATE	0.0003–26	46
4-NITROCATECHOL SULFATE	0.105–20.6	20
P-NITROPHENYL SULFATE	0.0549–8.7	4
2-HYDROXY-5-NITROPHENYL SULFATE	0.043–0.085	3
ESTRONE 3-SULFATE	0.014–0.351	3
4-METHYLUMBELLIFERYL SULFATE	0.0066–0.175	2
4-NITROPHENYL PHOSPHATE	0.0291–0.0752	2
DOPAMINE 3-SULFATE	7.2–9.8	2
DOPAMINE 4-SULFATE	2.1–2.8	2
EPINEPHRINE 3-SULFATE	14.1–18	2
EPINEPHRINE 4-SULFATE	1.9–2.5	2
NOREPINEPHRINE 3-SULFATE	10.5–12.8	2
NOREPINEPHRINE 4-SULFATE	2.7–3.3	2
2-HYDROXY-4-NITROPHENYL SULFATE	0.181	1
2-METHYL-4-NITROPHENYL SULFATE	0.55	1

Catalyzed reactions (Rhea), 1 shown:

• an aryl sulfate + H2O = a phenol + sulfate + H(+) (RHEA:17261)

UniProt features (22 total): glycosylation site 7, binding site 6, sequence variant 3, signal peptide 1, chain 1, active site 1, mutagenesis site 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWY0-F1	91.50	0.86

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 80 (nucleophile)

Ligand- & substrate-binding residues (6): 40; 80 (via 3-oxoalanine); 128; 251; 313; 314

Post-translational modifications (1): 80

Glycosylation sites (7): 108, 166, 193, 262, 375, 413, 498

Mutagenesis-validated functional residues (1):

Position	Phenotype
80	loss of arylsulfatase and glucuronate-2-sulfatase activity.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-1663150	The activation of arylsulfatases
R-HSA-9840310	Glycosphingolipid catabolism
R-HSA-1430728	Metabolism
R-HSA-163841	Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 170 (showing top): TGCGCANK_UNKNOWN, CADWELL_ATG16L1_TARGETS_DN, COATES_MACROPHAGE_M1_VS_M2_DN, REACTOME_SPHINGOLIPID_METABOLISM, chr5q15, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, ZHANG_GATA6_TARGETS_UP, NUYTTEN_NIPP1_TARGETS_DN, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_SULFURIC_ESTER_HYDROLASE_ACTIVITY, GOMF_ARYLSULFATASE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, REACTOME_GAMMA_CARBOXYLATION_HYPUSINYLATION_HYDROXYLATION_AND_ARYLSULFATASE_ACTIVATION, REACTOME_METABOLISM_OF_LIPIDS, ATF6_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (4): arylsulfatase activity (GO:0004065), glucuronate-2-sulfatase activity (GO:0015024), metal ion binding (GO:0046872), hydrolase activity (GO:0016787)

GO Cellular Component (3): extracellular region (GO:0005576), lysosome (GO:0005764), endoplasmic reticulum lumen (GO:0005788)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1
Glycosphingolipid metabolism	1
Post-translational protein modification	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sulfuric ester hydrolase activity	2
cation binding	1
catalytic activity	1
cellular anatomical structure	1
lytic vacuole	1
endoplasmic reticulum	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

726 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARSK	ARSI	Q5FYB1	728
ARSK	ARSJ	Q5FYB0	696
ARSK	ARSH	Q5FYA8	532
ARSK	ARSB	P15848	474
ARSK	CHST10	O43529	468
ARSK	ALG12	Q9BV10	462
ARSK	ARSG	Q96EG1	440
ARSK	CHD1	O14646	439
ARSK	PON2	Q15165	420
ARSK	SUMF1	Q8NBK3	410
ARSK	DTWD2	Q8NBA8	410
ARSK	PIGS	Q96S52	408
ARSK	GALNS	P34059	398
ARSK	MAN2C1	Q9NTJ4	386
ARSK	CHST12	Q9NRB3	384

IntAct

97 interactions, top by confidence:

A	B	Type	Score
FBXO6	MAN2B1	psi-mi:“MI:0914”(association)	0.640
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
PRG3	ZNF324	psi-mi:“MI:0914”(association)	0.530
PRSS37	MANBA	psi-mi:“MI:0914”(association)	0.530
LACRT	PLXNA2	psi-mi:“MI:0914”(association)	0.530
SCGB1D4	EGFR	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
ISLR	BCKDK	psi-mi:“MI:0914”(association)	0.530
INSL5	COCH	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
C1orf54	EXTL3	psi-mi:“MI:0914”(association)	0.530
CYB5D2	SUN1	psi-mi:“MI:0914”(association)	0.530
ARSK	CANX	psi-mi:“MI:0914”(association)	0.530
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
SUSD4	CCDC85C	psi-mi:“MI:0914”(association)	0.350
ISLR	DDX11L8	psi-mi:“MI:0914”(association)	0.350
PLAUR	DDX11L8	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
TAZ	MANBA	psi-mi:“MI:0914”(association)	0.350
INSL5	LAMA5	psi-mi:“MI:0914”(association)	0.350
SLAMF1	RTCA	psi-mi:“MI:0914”(association)	0.350
LYZL1	MANBA	psi-mi:“MI:0914”(association)	0.350
TMEM25	FUZ	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
	HSPA12A	psi-mi:“MI:0914”(association)	0.350

BioGRID (123): ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS), ARSK (Affinity Capture-MS)

ESM2 similar proteins: A1A4K5, O14638, P06802, P08842, P15396, P15586, P15589, P15848, P22304, P22413, P33727, P50426, P50429, P51689, P51690, P54793, P97535, P97675, Q08890, Q08C93, Q13219, Q13822, Q1LZH9, Q32KH8, Q32KH9, Q32KJ9, Q3TYD4, Q5E9H0, Q5FYA8, Q5M900, Q5NDE3, Q5R5M5, Q5ZK90, Q60HH5, Q64610, Q66PG4, Q6DYE8, Q6NRQ1, Q6P9A2, Q6UWY0

Diamond homologs: A0A455ZJM4, O69787, P08842, P14217, P50426, Q0IHJ2, Q10723, Q148F3, Q1LZH9, Q21376, Q32KH0, Q32KJ2, Q6UWY0, Q8BFR4, Q8CFG0, Q8IWU5, Q8K007, Q8VI60, Q90XB6, Q9D2L1, Q9VEX0, D4GU60, Q1M964, Q45087, Q5ZK90, Q89YS5, P14000, P15289, P15589, P34059, P50427, P50428, P50473, P51688, P51689, P51690, P54793, Q08DD1, Q32KH5, Q32KH8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 119 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neutrophil degranulation	14	4.5×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	6	10.8×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

95 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	73
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1332916	NM_198150.3(ARSK):c.250C>T (p.Arg84Cys)	Pathogenic
1332917	NM_198150.3(ARSK):c.560T>A (p.Leu187Ter)	Pathogenic
1342941	NM_198150.3(ARSK):c.1251C>G (p.Tyr417Ter)	Pathogenic
2425958	NC_000005.9:g.(?94800311)(96107383_?)del	Pathogenic
4845732	NM_198150.3(ARSK):c.785dup (p.Asn262fs)	Likely pathogenic

SpliceAI

1046 predictions. Top by Δscore:

Variant	Effect	Δscore
5:95555401:CTTC:C	donor_gain	1.0000
5:95555405:G:GG	donor_gain	1.0000
5:95565995:CAGGA:C	acceptor_loss	1.0000
5:95565996:A:AG	acceptor_gain	1.0000
5:95565996:AG:A	acceptor_gain	1.0000
5:95565997:G:GG	acceptor_gain	1.0000
5:95565997:GG:G	acceptor_gain	1.0000
5:95565997:GGAT:G	acceptor_gain	1.0000
5:95566126:AGGT:A	donor_loss	1.0000
5:95566128:GT:G	donor_loss	1.0000
5:95566129:T:A	donor_loss	1.0000
5:95567885:CTCA:C	acceptor_loss	1.0000
5:95567888:A:AG	acceptor_gain	1.0000
5:95567888:A:T	acceptor_loss	1.0000
5:95567889:G:GA	acceptor_gain	1.0000
5:95567889:G:GC	acceptor_loss	1.0000
5:95567889:GC:G	acceptor_gain	1.0000
5:95567889:GCA:G	acceptor_gain	1.0000
5:95567889:GCAAT:G	acceptor_gain	1.0000
5:95582914:A:AG	acceptor_gain	1.0000
5:95582915:G:GG	acceptor_gain	1.0000
5:95591621:GCTTG:G	donor_gain	1.0000
5:95591622:CTTGG:C	donor_loss	1.0000
5:95591623:TTGGT:T	donor_loss	1.0000
5:95591624:TGGT:T	donor_loss	1.0000
5:95591625:GGTA:G	donor_loss	1.0000
5:95591626:G:GG	donor_gain	1.0000
5:95591627:TAA:T	donor_loss	1.0000
5:95600844:T:G	acceptor_gain	1.0000
5:95600845:A:AG	acceptor_gain	1.0000

AlphaMissense

3528 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:95591506:A:T	K326I	1.000
5:95591467:A:T	D313V	0.998
5:95591507:A:C	K326N	0.998
5:95591507:A:T	K326N	0.998
5:95591526:A:C	S333R	0.998
5:95591528:T:A	S333R	0.998
5:95591528:T:G	S333R	0.998
5:95566111:T:G	C80W	0.997
5:95567936:T:A	N101K	0.997
5:95567936:T:G	N101K	0.997
5:95591470:A:C	H314P	0.997
5:95566122:G:C	R84P	0.996
5:95567933:T:A	N100K	0.996
5:95567933:T:G	N100K	0.996
5:95591467:A:C	D313A	0.996
5:95591506:A:C	K326T	0.996
5:95555393:A:C	S39R	0.995
5:95555395:C:A	S39R	0.995
5:95555395:C:G	S39R	0.995
5:95566109:T:C	C80R	0.995
5:95567967:T:A	W112R	0.995
5:95567967:T:C	W112R	0.995
5:95582932:T:A	W145R	0.995
5:95582932:T:C	W145R	0.995
5:95591467:A:G	D313G	0.995
5:95555397:A:T	D40V	0.994
5:95591466:G:C	D313H	0.994
5:95600963:A:C	S405R	0.994
5:95600965:T:A	S405R	0.994
5:95600965:T:G	S405R	0.994

dbSNP variants (sampled 300 via entrez): RS1000093461 (5:95555405 G>A,C,T), RS1000099574 (5:95588107 A>G), RS1000119287 (5:95585107 A>G), RS1000164381 (5:95561890 T>G), RS1000213811 (5:95579940 G>C), RS1000302409 (5:95594119 AT>A,ATT), RS1000306598 (5:95573021 T>A), RS1000391670 (5:95568567 C>A,T), RS1000418030 (5:95575425 T>A), RS1000531094 (5:95573888 T>G), RS1000549121 (5:95582373 G>A), RS1000663639 (5:95582073 T>C), RS1000828386 (5:95597343 A>T), RS1000829640 (5:95565176 A>G), RS1000891312 (5:95588981 A>C)

Disease associations

OMIM: gene MIM:610011 | disease phenotypes: MIM:619698

GenCC curated gene-disease

Disease	Classification	Inheritance
mucopolysaccharidosis, type 10	Strong	Autosomal recessive
mucopolysaccharidosis	Strong	Autosomal recessive

Mondo (2): mucopolysaccharidosis, type 10 (MONDO:0030524), mucopolysaccharidosis (MONDO:0019249)

Orphanet (1): Mucopolysaccharidosis type 10 (Orphanet:662216)

HPO phenotypes

27 total (27 of 27 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000280	Coarse facial features
HP:0000343	Long philtrum
HP:0000431	Wide nasal bridge
HP:0000687	Widely spaced teeth
HP:0000699	Diastema
HP:0000787	Nephrolithiasis
HP:0000885	Broad ribs
HP:0000916	Broad clavicles
HP:0000926	Platyspondyly
HP:0001385	Hip dysplasia
HP:0001650	Aortic valve stenosis
HP:0001659	Aortic regurgitation
HP:0001712	Left ventricular hypertrophy
HP:0002650	Scoliosis
HP:0002857	Genu valgum
HP:0003307	Hyperlordosis
HP:0003521	Disproportionate short-trunk short stature
HP:0004568	Beaking of vertebral bodies
HP:0005121	Posterior scalloping of vertebral bodies
HP:0008301	Dermatan sulfate excretion in urine
HP:0008833	Irregular acetabular roof
HP:0010807	Open bite
HP:0011463	Childhood onset
HP:0012307	Spatulate ribs
HP:0031568	Thickened aortic valve cusp
HP:0100832	Vitreous floaters

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009083	Mucopolysaccharidoses	C16.320.565.202.715; C16.320.565.595.600; C17.300.550.575; C18.452.648.202.715; C18.452.648.595.600

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
(+)-JQ1 compound	increases expression	2
Acetaminophen	increases expression	2
Valproic Acid	increases expression	2
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
methylparaben	increases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Thimerosal	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Vanadates	increases expression	1
Copper Sulfate	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

33 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05494593	PHASE4	WITHDRAWN	A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)
NCT00654433	PHASE3	TERMINATED	ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
NCT02230566	PHASE3	COMPLETED	A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
NCT02432144	PHASE3	COMPLETED	A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT02350816	PHASE2	TERMINATED	An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.
NCT02418455	PHASE2	COMPLETED	Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
NCT03632213	PHASE2	UNKNOWN	Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
NCT01238328	PHASE2/PHASE3	UNKNOWN	Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis
NCT01155778	PHASE1/PHASE2	COMPLETED	Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
NCT01474343	PHASE1/PHASE2	COMPLETED	Intracerebral Gene Therapy for Sanfilippo Type A Syndrome
NCT02053064	PHASE1/PHASE2	COMPLETED	Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy
NCT01521429	Not specified	COMPLETED	Longitudinal Study of Bone Disease in Children with Mucopolysaccharidoses (MPS) I, II, and VI
NCT01586871	Not specified	COMPLETED	Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
NCT01675674	Not specified	TERMINATED	Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
NCT01695161	Not specified	UNKNOWN	Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
NCT01822184	Not specified	COMPLETED	Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
NCT02095015	Not specified	TERMINATED	Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
NCT02583152	Not specified	UNKNOWN	New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03017677	Not specified	UNKNOWN	A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04112602	Not specified	COMPLETED	Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
NCT04491747	Not specified	COMPLETED	Assessment of Factors That Affected Respiratory Parameters in Mucopolysaccharidoses Patients
NCT04637646	Not specified	UNKNOWN	Evaluation of Cardiac Affections in Patients With Mucopolysaccharidosis (MPS) in Assuit University Children Hospital (AUCH)
NCT05006222	Not specified	COMPLETED	The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
NCT05063435	Not specified	ACTIVE_NOT_RECRUITING	Cardiovascular Structure and Function in the Mucopolysaccharidoses
NCT05155488	Not specified	COMPLETED	A Study to Improve the Awareness of Mucopolysaccharidosis Type II in Brazil
NCT05354219	Not specified	UNKNOWN	Validation and Reliability of Iris Cameras in Mucopolysaccharidoses
NCT07136896	Not specified	NOT_YET_RECRUITING	Nutritional Assessment in Patient of Mucopolysaccharide
NCT07173010	Not specified	NOT_YET_RECRUITING	Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
NCT07449143	Not specified	NOT_YET_RECRUITING	Physical Activity Intervention for MPS