HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HYAL3
hyaluronidase 3
Chromosome 3 · 3p21.31
NCBI Gene: 8372Ensembl: ENSG00000186792.18HGNC: HGNC:5322UniProt: O43820
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
virus receptor activityhyalurononglucosaminidase activityprotein bindinghyaluronoglucuronidase activityauroneurodental syndromebladder transitional cell carcinomaAbnormality of the skeletal systemhypersensitivity pneumonitis, familial
✦AI Summary

HYAL3 encodes hyaluronidase 3, an enzyme that catalyzes hyaluronic acid degradation through hyaluronan catabolic processes 1. In reproductive physiology, HYAL3 facilitates sperm penetration into cumulus cells surrounding the egg and induces acrosome reactions [UniProt]. The enzyme regulates ovarian follicle development by inducing granulosa cell apoptosis through caspase-8/3 and PARP activation, contributing to follicular atresia [UniProt]. Notably, HYAL3 exhibits tissue-specific enzymatic activity, lacking hyaluronidase function in embryonic fibroblasts and granulosa cells in vitro [UniProt]. Clinically, HYAL3 has emerged as a potential disease biomarker. Genetic polymorphisms in HYAL3 are associated with primary open-angle glaucoma through hyaluronan metabolism disruption 2. In bladder cancer, elevated HYAL3 expression predicts poor overall survival and correlates with immune cell infiltration 3. HYAL3 mutations occur in ~10% of lung squamous cell carcinomas and associate with lymph node metastasis 4. Following acoustic trauma, HYAL3 expression changes contribute to cochlear inflammation via TLR4 signaling activation 5. In pancreatic cancer, HYAL3 is expressed in tumors alongside HYAL1 and HYAL2, supporting tumor-promoting hyaluronan degradation 6. These findings suggest HYAL3 serves dual roles in normal reproductive physiology and pathological tissue remodeling associated with cancer progression and inflammatory diseases.

Sources cited
1
HYAL3 is one of six human hyaluronidase homologues involved in hyaluronic acid degradation; deficiencies in HYAL3 are identified causes of human genetic disorders
PMID: 39056785
2
HYAL3 genetic polymorphisms are associated with primary open-angle glaucoma through hyaluronan metabolic gene dysfunction
PMID: 22960332
3
HYAL3 expression is elevated in bladder cancer, predicts poor overall survival, and correlates with infiltration of multiple immune cell types
PMID: 35945500
4
HYAL3 mutations occur in approximately 10% of Chinese lung squamous cell carcinoma patients and correlate with lymph node metastasis status
PMID: 23549009
5
HYAL3 expression changes following acoustic trauma contribute to noise-induced cochlear inflammation through low-molecular-weight hyaluronic acid and TLR4 signaling
PMID: 37231777
6
HYAL3 is expressed in pancreatic ductal adenocarcinoma tumors alongside HYAL1 and HYAL2, supporting tumor-promoting hyaluronan degradation
PMID: 37296612
7
HYAL3 is organized in a complex genomic region with broader tissue expression in mice than humans and produces multiple transcript variants
PMID: 11929860
Disease Associationsⓘ20
auroneurodental syndromeOpen Targets
0.33Weak
bladder transitional cell carcinomaOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
hypersensitivity pneumonitis, familialOpen Targets
0.05Suggestive
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
familial spontaneous pneumothoraxOpen Targets
0.04Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.04Suggestive
exercise-induced hyperinsulinismOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
response to stimulusOpen Targets
0.04Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
Hashimoto's thyroiditisOpen Targets
0.03Suggestive
schizophreniaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
breast neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARSBProtein interaction92%IDUAProtein interaction92%SPAG9Protein interaction89%GUSBProtein interaction63%HYAL1Shared pathway45%HYAL2Shared pathway30%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
7%
Lung
3%
Brain
3%
Heart
3%
Ovary
2%
Gene Interaction Network
Click a node to explore
HYAL3ARSBIDUASPAG9GUSBHYAL1HYAL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43820
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.62–1.09]
RankingsWhere HYAL3 stands among ~20K protein-coding genes
  • #10,634of 20,598
    Most Researched37
  • #11,155of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedHYAL3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Deficiencies of Hyaluronan Degradation.
PMID: 39056785
Cells · 2024
1.00
2
Genetic association and gene-gene interaction of HAS2, HABP1 and HYAL3 implicate hyaluronan metabolic genes in glaucomatous neurodegeneration.
PMID: 22960332
Dis Markers · 2012
0.90
3
Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3.
PMID: 11929860
J Biol Chem · 2002
0.80
4
HYAL3 as a potential novel marker of BLCA patient prognosis.
PMID: 35945500
BMC Genom Data · 2022
0.70
5
Low-Molecular-Weight Hyaluronic Acid Contributes to Noise-Induced Cochlear Inflammation.
PMID: 37231777
Audiol Neurootol · 2023
0.60