HYAL2

Chr 3p21.31

hyaluronidase 2

Aliases:: LuCa-2, LUCA2
MANE:: ENST00000357750.9

OMIM: 603551 ↗NCBI: 8692 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HYAL2 · Q12891

v62025-08-01

Predicted Aligned Error matrix for HYAL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.0/ 100

Very high

473 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)4%
Low(50–70)3%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Familial non syndromic congenital heart disease
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Muggenthaler-Chowdhury-Chioza syndrome
0.70
neurodegenerative disease
0.45
cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
0.21
hereditary disease
0.19
congenital myopathy 4B, autosomal recessive
0.12
amelogenesis imperfecta
0.09
Hypomaturation amelogenesis imperfecta
0.09
breast cancer
0.09
van der Woude syndrome
0.08
Hypoplastic amelogenesis imperfecta
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Hyaluronidase-2

Catalyzes hyaluronan degradation into small fragments that are endocytosed and degraded in lysosomes by HYAL1 and exoglycosidases (PubMed:9712871). Essential for the breakdown of extracellular matrix hyaluronan (PubMed:28081210)