HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARSD
arylsulfatase D
Chromosome X · Xp22.33
NCBI Gene: 414Ensembl: ENSG00000006756.17HGNC: HGNC:717UniProt: A0A140VK06
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
arylsulfatase activityendoplasmic reticulum lumenlysosomeneurodegenerative diseasebreast cancergliomatriple-negative breast cancer
✦AI Summary

ARSD (arylsulfatase D) is an X-linked gene localized to Xp22.3 that encodes an arylsulfatase enzyme with arylsulfatase activity functioning in the endoplasmic reticulum lumen 1. As a female-biased gene escaping X-chromosome X, ARSD expression is regulated by estrogen receptor alpha (ERα) and lineage-specific transcription factors (FOXA1, GATA3) in luminal breast cancer cells 1. ARSD functions as a tumor suppressor: ectopic overexpression inhibits breast cancer cell proliferation and migration by activating the Hippo/YAP signaling pathway 1, while ARSD downregulation correlates with higher tumor grade and poorer prognosis 2. In chrX lymphocytic leukemia, ARSD overexpression associates with unmutated IGVH status and shorter time to therapy initiation, establishing it as a novel prognostic factor 3. In glioblastoma, ARSD promotes glycolysis and temozolomide resistance through β-catenin pathway activation; TRIM67-mediated ARSD degradation suppresses these oncogenic effects 4. Paradoxically, ARSD overexpression in breast epithelial cells triggers amyloidosis-associated gene expression changes potentially linked to Alzheimer's disease pathology 5. These findings indicate ARSD functions as a context-dependent regulator of cancer progression and metabolic reprogramming with dual relevance for cancer therapy and neurodegenerative disease.

Sources cited
1
ARSD is an ERα downstream target localized to Xp22.3 that escapes X-chromosome inactivation; ARSD overexpression inhibits TNBC proliferation and migration via Hippo/YAP pathway activation
PMID: 34725332
2
ARSD is significantly overexpressed in unmutated ZAP70-positive CLL and serves as an independent prognostic factor associated with shorter time to therapy
PMID: 22820137
3
High ARSD expression associates with lower tumor grade in breast cancer; ARSD interacts with STS and SUMF1 proteins and co-expresses with MAF and GATA oncogenic transcription factors
PMID: 33099917
4
ARSD is upregulated in glioblastoma and promotes glycolysis and temozolomide resistance through β-catenin pathway activation; TRIM67 promotes ARSD ubiquitinated degradation
PMID: 41396160
5
ARSD overexpression in breast cells triggers upregulation of amyloidosis-related genes and pathways associated with Alzheimer's disease, neuroinflammation, and protein misfolding
PMID: 35066432
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.24Weak
breast cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Netherton syndromeOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
pneumoniaOpen Targets
0.01Suggestive
invasive breast ductal carcinomaOpen Targets
0.01Suggestive
chronic lymphocytic leukemiaOpen Targets
0.01Suggestive
acute respiratory distress syndromeOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
amyloidosisOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
esophageal adenocarcinomaOpen Targets
0.00Suggestive
hypospadiasOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
polycystic ovary syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XGProtein interaction78%SUMF1Protein interaction70%
Tissue Expression6 tissues
Liver
100%
Ovary
62%
Bone Marrow
39%
Brain
38%
Heart
33%
Lung
30%
Gene Interaction Network
Click a node to explore
ARSDXGSUMF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P51689
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.46–0.93]
RankingsWhere ARSD stands among ~20K protein-coding genes
  • #14,641of 20,598
    Most Researched18
  • #8,568of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedARSD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ARSD, a novel ERα downstream target gene, inhibits proliferation and migration of breast cancer cells via activating Hippo/YAP pathway.
PMID: 34725332
Cell Death Dis · 2021
1.00
2
Gene expression profiling identifies ARSD as a new marker of disease progression and the sphingolipid metabolism as a potential novel metabolism in chronic lymphocytic leukemia.
PMID: 22820137
Cancer Biomark · 2011
0.90
3
Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA ARSD-AS1 gene expression in breast cancer patients and their association with oncogenic transcription factors.
PMID: 33099917
J BUON · 2020
0.80
4
The ArsD As(III) metallochaperone.
PMID: 21188475
Biometals · 2011
0.70
5
TRIM67 Suppresses Glioblastoma Glycolysis and Increases Temozolomide Sensitivity by Promoting ARSD Ubiquitinated Degradation to Inactivate the β-Catenin Pathway.
PMID: 41396160
FASEB J · 2025
0.60