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Gene Gene information from NCBI Gene database.
Entrez ID 414
Gene name Arylsulfatase D
Gene symbol ARSD
Synonyms (NCBI Gene)
ASD
Chromosome X
Chromosome location Xp22.33
Summary The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is loc
miRNA miRNA information provided by mirtarbase database.
425 Show/Hide all (425)
miRTarBase ID miRNA Experiments Reference
MIRT043421 hsa-miR-331-3p CLASH 23622248
MIRT615465 hsa-miR-1250-3p HITS-CLIP 23824327
MIRT615464 hsa-miR-153-5p HITS-CLIP 23824327
MIRT615463 hsa-miR-129-5p HITS-CLIP 23824327
MIRT615465 hsa-miR-1250-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0004065 Function Arylsulfatase activity IBA
GO:0004065 Function Arylsulfatase activity TAS 7720070
GO:0005764 Component Lysosome IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300002 717 ENSG00000006756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51689
Protein name Arylsulfatase D (ASD) (EC 3.1.6.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00884 Sulfatase 41 → 427 Sulfatase Family
PF14707 Sulfatase_C 451 → 585 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart.
Sequence
Sequence length 593
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Glycosphingolipid metabolism
The activation of arylsulfatases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
ARSD-related disorder Uncertain significance; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (107)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q11 Deletion Syndrome 22q11 deletion syndrome BEFREE 19815377
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis BEFREE 11675686
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 2410066
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35066432 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis Pubtator 35066432 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia BEFREE 27929720
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 18566880, 27040557, 27440250, 28238024, 28451947, 28574646, 28616856, 28689329, 28922575, 28988366, 29152669, 29222612, 29316350, 29683406, 29948532
View all (7 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 18566880, 27040557, 27440250, 28004234, 28238024, 28343630, 28451947, 28574646, 28616856, 28689329, 28922575, 28988366, 29152669, 29222612, 29316350
View all (10 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic coarctation Aortic Coarctation BEFREE 18773387, 27773863, 31672476
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 31672476
★★★★★
★☆☆☆☆
Found in Text Mining only