Sulfatases (EC, such as ARSJ, 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]).[supplied by OMIM, Mar 2008] See more...

Aliases for ARSJ Gene

Aliases for ARSJ Gene

  • Arylsulfatase Family Member J 2 3 5
  • Arylsulfatase J 2 3 4
  • ASJ 3 4
  • Arylsulfatase Family, Member J 2
  • EC 50
  • EC 3.1.6.- 4
  • FLJ23548 2
  • EC 3.1.6 50
  • ARSJ 5

External Ids for ARSJ Gene

Previous GeneCards Identifiers for ARSJ Gene

  • GC04M115180
  • GC04M115040
  • GC04M114821
  • GC04M110549

Summaries for ARSJ Gene

Entrez Gene Summary for ARSJ Gene

  • Sulfatases (EC, such as ARSJ, 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]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ARSJ Gene

ARSJ (Arylsulfatase Family Member J) is a Protein Coding gene. Diseases associated with ARSJ include Rett Syndrome, Congenital Variant and Rett Syndrome. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSI.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARSJ Gene

Genomics for ARSJ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARSJ Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J113975 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.7 +2.6 2618 6.9 JUND ATF2 YY1 FEZF1 ZNF341 CTCF ZNF146 PRDM6 ZBTB48 ZNF189 ARSJ lnc-ANK2-13 lnc-ARSJ-2 ENSG00000196656 HSALNG0036532 LOC107986305 HSALNG0036534 lnc-ANK2-1 CAMK2D
GH04J114364 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 250 -384.8 -384844 1.8 JUND POLR2A EP300 LOC105377378 lnc-ARSJ-1 ARSJ lnc-UGT8-2 LOC105377379 UGT8
GH04J114014 Enhancer 0.8 Ensembl ENCODE 16.3 -35.2 -35237 3 JUND CEBPB EP300 PRDM1 STAT3 PRDM6 ATF4 POLR2A CHD1 OSR2 ARSJ piR-33422-326 LOC105377376 HSALNG0036535-001 HSALNG0036535-002 lnc-ANK2-1 UGT8
GH04J113563 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.3 +416.3 416263 9.2 BCLAF1 SP1 ZNF207 BCL11A TRIM22 HES1 FEZF1 IRF4 EBF1 CBFB ARSJ RF00994-757 lnc-ARSJ-4 CAMK2D ANK2
GH04J113951 Enhancer 0.6 Ensembl ENCODE dbSUPER 16.3 +29.0 28960 1 JUND ARSJ ENSG00000249304 lnc-ANK2-12 lnc-ARSJ-2 lnc-ANK2-1 CAMK2D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARSJ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARSJ

Top Transcription factor binding sites by QIAGEN in the ARSJ gene promoter:
  • C/EBPalpha
  • E47
  • En-1
  • FOXL1
  • HOXA3
  • IRF-2
  • Lhx3a
  • LHX3b
  • Tal-1
  • TBP

Genomic Locations for ARSJ Gene

Latest Assembly
80,536 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
79,364 bases
Minus strand

(GRCh37/hg19 by Ensembl)
79,444 bases
Minus strand

Genomic View for ARSJ Gene

Genes around ARSJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARSJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARSJ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARSJ Gene

Proteins for ARSJ Gene

  • Protein details for ARSJ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Arylsulfatase J
    Protein Accession:
    Secondary Accessions:
    • A2RUG0
    • B7ZM45
    • Q1HA39
    • Q5FWE4
    • Q6UWT9

    Protein attributes for ARSJ Gene

    599 amino acids
    Molecular mass:
    67235 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    • Sequence=AAQ89010.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ARSJ Gene

Selected DME Specific Peptides for ARSJ Gene


Post-translational modifications for ARSJ Gene

  • 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.
  • Glycosylation at Asn157, Asn306, Asn318, Asn431, Asn497, and Asn527
  • Modification sites at PhosphoSitePlus

Domains & Families for ARSJ Gene

Gene Families for ARSJ Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ARSJ Gene

Suggested Antigen Peptide Sequences for ARSJ Gene

GenScript: Design optimal peptide antigens:
  • Arylsulfatase J (ARSJ_HUMAN)
  • ARSJ protein (Q8N5N6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sulfatase family.
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with ARSJ: view

Function for ARSJ Gene

Enzyme Numbers (IUBMB) for ARSJ Gene

Phenotypes From GWAS Catalog for ARSJ Gene

Gene Ontology (GO) - Molecular Function for ARSJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004065 arylsulfatase activity TAS 16174644
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARSJ: view
genes like me logo Genes that share phenotypes with ARSJ: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARSJ

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARSJ Gene

Localization for ARSJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSJ Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARSJ gene
Compartment Confidence
extracellular 4
cytoskeleton 4
endoplasmic reticulum 4
plasma membrane 2
nucleus 2
lysosome 2
mitochondrion 1
cytosol 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARSJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0015629 actin cytoskeleton IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ARSJ: view

Pathways & Interactions for ARSJ Gene

genes like me logo Genes that share pathways with ARSJ: view

Interacting Proteins for ARSJ Gene

Gene Ontology (GO) - Biological Process for ARSJ Gene


No data available for SIGNOR curated interactions for ARSJ Gene

Drugs & Compounds for ARSJ Gene

(1) Drugs for ARSJ Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with ARSJ: view

Transcripts for ARSJ Gene

mRNA/cDNA for ARSJ Gene

17 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARSJ

Alternative Splicing Database (ASD) splice patterns (SP) for ARSJ Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1: -
SP2: - - -

Relevant External Links for ARSJ Gene

GeneLoc Exon Structure for

Expression for ARSJ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARSJ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARSJ

SOURCE GeneReport for Unigene cluster for ARSJ Gene:


Evidence on tissue expression from TISSUES for ARSJ Gene

  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with ARSJ: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSJ Gene

Orthologs for ARSJ Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSJ Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ARSJ 29 30
  • 99.11 (n)
(Canis familiaris)
Mammalia ARSJ 29 30
  • 91.92 (n)
(Bos Taurus)
Mammalia ARSJ 29 30
  • 88.46 (n)
(Monodelphis domestica)
Mammalia ARSJ 30
  • 87 (a)
(Rattus norvegicus)
Mammalia Arsj 29
  • 86.71 (n)
(Mus musculus)
Mammalia Arsj 29 16 30
  • 86.32 (n)
(Gallus gallus)
Aves ARSJ 29 30
  • 78.68 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 84 (a)
-- 30
  • 84 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arsj 29
  • 72.67 (n)
(Danio rerio)
Actinopterygii ARSJ 30
  • 70 (a)
LOC559800 29
  • 69.19 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7014 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG8646 30
  • 36 (a)
CG7402 30
  • 32 (a)
CG32191 30
  • 31 (a)
CG7408 30
  • 31 (a)
(Caenorhabditis elegans)
Secernentea sul-3 30
  • 35 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 47 (a)
-- 30
  • 45 (a)
-- 30
  • 38 (a)
CSA.11348 30
  • 34 (a)
Species where no ortholog for ARSJ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ARSJ Gene

Gene Tree for ARSJ (if available)
Gene Tree for ARSJ (if available)
Evolutionary constrained regions (ECRs) for ARSJ: view image
Alliance of Genome Resources:
Additional Orthologs for ARSJ

Paralogs for ARSJ Gene

(4) SIMAP similar genes for ARSJ Gene using alignment to 3 proteins:

  • Q8N5N6_HUMAN
genes like me logo Genes that share paralogs with ARSJ: view

Variants for ARSJ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARSJ Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs75252202 Likely Benign: not provided 113,902,830(-) C/T
NM_024590.4(ARSJ):c.1244G>A (p.Arg415Gln)
rs17046588 -- p.Ser565Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARSJ Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARSJ Gene

Variant ID Type Subtype PubMed ID
esv2320119 CNV deletion 18987734
esv2728163 CNV deletion 23290073
esv2728164 CNV deletion 23290073
esv2728165 CNV deletion 23290073
esv3569667 CNV loss 25503493
nsv524515 CNV gain 19592680
nsv525087 CNV gain 19592680

Variation tolerance for ARSJ Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSJ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARSJ Gene

Disorders for ARSJ Gene

MalaCards: The human disease database

(11) MalaCards diseases for ARSJ Gene - From: CVR and COP

Disorder Aliases PubMed IDs
rett syndrome, congenital variant
  • rett syndrome congenital variant
rett syndrome
  • rtt
acrofacial dysostosis 1, nager type
  • afd1
arterial calcification of infancy
  • generalized arterial calcification of infancy
acrofacial dysostosis
- elite association - COSMIC cancer census association via MalaCards
Search ARSJ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARSJ

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ARSJ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARSJ Gene

Publications for ARSJ Gene

  1. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PMID: 16174644) Sardiello M … Ballabio A (Human molecular genetics 2005) 2 3 4
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 40
  4. Molecular cloning and initial characterization of three novel human sulfatases. (PMID: 16500042) Obaya AJ (Gene 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ARSJ Gene

Sources for ARSJ Gene