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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HYAL2
hyaluronidase 2
Chromosome 3 Β· 3p21.31
NCBI Gene: 8692Ensembl: ENSG00000068001.15HGNC: HGNC:5321UniProt: Q12891
75PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
hyalurononglucosaminidase activityexternal side of plasma membranecellular response to interleukin-1cellular response to tumor necrosis factorMuggenthaler-Chowdhury-Chioza syndromeneurodegenerative diseasecleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndromegenetic disorder
✦AI Summary

HYAL2 (hyaluronidase 2) is a lysosomal glycosylphosphatidylinositol-anchored cell-surface protein that catalyzes hyaluronan degradation 1. It functions as the initial enzyme in a two-step hyaluronan catabolism pathway, cleaving high-molecular-mass hyaluronan into ~20 kDa fragments that are subsequently processed by HYAL1 and exoglycosidases in lysosomes 1. HYAL2 exhibits low hyaluronidase activity at acidic pH (below pH 4) and can maintain activity in near-neutral conditions when bound to its cell-surface receptor CD44, enabling hyaluronan degradation within the extracellular matrix microenvironment 2. Beyond hyaluronan metabolism, HYAL2 serves as the cell-surface receptor for jaagsiekte sheep retrovirus and ovine nasal adenocarcinoma virus 3, and participates in tumor metastatic colonization through extracellular matrix remodeling 4. Biallelic HYAL2 variants cause Muggenthaler-Chowdhury-Chioza syndrome, characterized by syndromic cleft lip/palate, congenital heart disease, craniofacial dysmorphism, myopia, and developmental delays 5. Pathogenic missense variants impair protein folding and stability, resulting in absent or reduced cell-surface HYAL2 expression 5. HYAL2 deficiency disrupts extracellular matrix homeostasis during critical developmental processes, particularly craniofacial and cardiac morphogenesis 6.

Sources cited
1
HYAL2 is a lysosomal hyaluronidase with specificity for high-molecular-mass hyaluronan, producing ~20 kDa fragments
PMID: 9712871
2
HYAL2 binds CD44 at the cell surface and can exhibit hyaluronidase activity in near-neutral pH range when bound to CD44
PMID: 25864644
3
HYAL2 is a glycosylphosphatidylinositol-anchored cell-surface protein that serves as receptor for jaagsiekte sheep retrovirus
PMID: 12596899
4
HYAL2 mediates extracellular matrix remodeling in metastatic niches through myeloid cell activity
PMID: 40663210
5
Biallelic HYAL2 variants cause syndromic cleft lip/palate with cardiac and ocular abnormalities; pathogenic variants cause protein instability and cell surface absence
PMID: 34906488
6
HYAL2 deficiency presents with growth deficiency, congenital heart disease, craniofacial dysmorphism, and developmental delays
PMID: 40164710
Disease Associationsβ“˜21
Muggenthaler-Chowdhury-Chioza syndromeOpen Targets
0.70Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndromeOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
congenital myopathy 4B, autosomal recessiveOpen Targets
0.12Weak
cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
malignant pleural mesotheliomaOpen Targets
0.08Suggestive
strokeOpen Targets
0.08Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
gliomaOpen Targets
0.07Suggestive
bifid uvulaOpen Targets
0.07Suggestive
cleft palate-lateral synechia syndromeOpen Targets
0.07Suggestive
cleft palateOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.06Suggestive
laryngotracheoesophageal cleftOpen Targets
0.06Suggestive
Ankyloblepharon filiforme adnatum - cleft palateOpen Targets
0.06Suggestive
ankyloblepharon filiforme adnatum-cleft palate syndromeOpen Targets
0.06Suggestive
orofacial cleft 11Open Targets
0.06Suggestive
orofacial cleft 10Open Targets
0.06Suggestive
Muggenthaler-Chowdhury-Chioza syndromeUniProt
Pathogenic Variants11
NM_003773.5(HYAL2):c.443A>G (p.Lys148Arg)Likely pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 148
NM_003773.5(HYAL2):c.782C>T (p.Ser261Phe)Likely pathogenic
HYAL2 Deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 261
NM_003773.5(HYAL2):c.1132C>T (p.Arg378Cys)Likely pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 378
NM_003773.5(HYAL2):c.190G>A (p.Ala64Thr)Pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 64
NM_003773.5(HYAL2):c.713T>G (p.Leu238Arg)Pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 238
NM_003773.5(HYAL2):c.194C>G (p.Ser65Ter)Pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 65
NM_003773.5(HYAL2):c.1271_1272del (p.His424fs)Pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 424
NM_003773.5(HYAL2):c.883C>T (p.Arg295Ter)Pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 295
NM_003773.5(HYAL2):c.749C>T (p.Pro250Leu)Pathogenic
HYAL2 Deficiency|Muggenthaler-Chowdhury-Chioza syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 250
NM_003773.5(HYAL2):c.611G>C (p.Gly204Ala)Likely pathogenic
HYAL2 Deficiency
β˜†β˜†β˜†β˜†2021β†’ Residue 204
NM_003773.5(HYAL2):c.1273T>G (p.Phe425Val)Pathogenic
HYAL2 Deficiency
β˜†β˜†β˜†β˜†2021β†’ Residue 425
View on ClinVar β†—
Related Genes
ARSBProtein interaction92%IDUAProtein interaction92%MST1RProtein interaction87%SPAG9Protein interaction82%WWOXProtein interaction76%CD44Protein interaction75%
Tissue Expression6 tissues
Lung
100%
Heart
31%
Liver
18%
Ovary
16%
Brain
8%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
HYAL2ARSBIDUAMST1RSPAG9WWOXCD44
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q12891
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.63–1.11]
RankingsWhere HYAL2 stands among ~20K protein-coding genes
  • #6,334of 20,598
    Most Researched75
  • #2,759of 5,498
    Most Pathogenic Variants11
  • #11,373of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedHYAL2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Deficiencies of Hyaluronan Degradation.
PMID: 39056785
Cells Β· 2024
1.00
2
Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.
PMID: 40164710
J Hum Genet Β· 2025
0.90
3
CD44 knock-down in bovine and human chondrocytes results in release of bound HYAL2.
PMID: 25864644
Matrix Biol Β· 2015
0.80
4
Metastasis-promoting functions of myeloid cells.
PMID: 40663210
Cancer Metastasis Rev Β· 2025
0.70
5
Structural organization and chromosomal localization of Hyal2, a gene encoding a lysosomal hyaluronidase.
PMID: 9790770
Genomics Β· 1998
0.60