Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
410
Gene name Gene Name - the full gene name approved by the HGNC.
Arylsulfatase A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARSA
Synonyms (NCBI Gene) Gene synonyms aliases
ASA, MLD
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultima
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs6151414 C>G,T Conflicting-interpretations-of-pathogenicity Intron variant
rs6151429 T>C Benign, pathogenic, benign-likely-benign, other 3 prime UTR variant
rs28940893 G>A Pathogenic 3 prime UTR variant, coding sequence variant, missense variant
rs28940894 T>G Pathogenic Coding sequence variant, missense variant
rs28940895 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018147 hsa-miR-335-5p Microarray 18185580
MIRT610868 hsa-miR-6808-5p HITS-CLIP 23824327
MIRT610867 hsa-miR-6893-5p HITS-CLIP 23824327
MIRT610866 hsa-miR-940 HITS-CLIP 23824327
MIRT610865 hsa-miR-3929 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004065 Function Arylsulfatase activity IBA
GO:0004065 Function Arylsulfatase activity TAS 2562955
GO:0004098 Function Cerebroside-sulfatase activity IEA
GO:0005509 Function Calcium ion binding IDA 12888274
GO:0005515 Function Protein binding IPI 21516116, 25416956, 25910212, 26871637, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607574 713 ENSG00000100299
Protein
UniProt ID P15289
Protein name Arylsulfatase A (ASA) (EC 3.1.6.8) (Cerebroside-sulfatase) [Cleaved into: Arylsulfatase A component B; Arylsulfatase A component C]
Protein function Hydrolyzes cerebroside sulfate.
PDB 1AUK , 1E1Z , 1E2S , 1E33 , 1E3C , 1N2K , 1N2L , 2AIJ , 2AIK , 2HI8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00884 Sulfatase 21 346 Sulfatase Family
PF14707 Sulfatase_C 368 502 Domain
Sequence
Sequence length 507
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Sphingolipid metabolism
Metabolic pathways
Lysosome
  Glycosphingolipid metabolism
The activation of arylsulfatases
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Leukodystrophy leukodystrophy rs74315475 N/A
Mental retardation intellectual disability rs80338815, rs28940893 N/A
metachromatic leukodystrophy Metachromatic leukodystrophy rs199476375, rs1057516373, rs199476366, rs74315473, rs74315481, rs2082676596, rs755635209, rs1375757476, rs398123411, rs199476352, rs1555901112, rs80338823, rs1569081823, rs1057516907, rs199476384
View all (111 more)
N/A
Metachromatic Leukodystrophy metachromatic leukodystrophy, juvenile type rs80338820, rs80338815, rs28940893, rs74315485, rs74315470, rs74315457 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Citrullinemia citrullinemia N/A N/A ClinVar
Pelvic Organ Prolapse Pelvic organ prolapse N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 29486463
Autistic Disorder Associate 37794117
Brain Diseases Associate 21265945
Carcinogenesis Associate 33668685
Carcinoma Neuroendocrine Associate 31852810
Cardiovascular Diseases Associate 30026549
COVID 19 Associate 34322810
Death Associate 37794117
Dementia Associate 31836585
Demyelinating Diseases Associate 26553228