HYAL2
entrez
8692
canonical
uniprot
Q12891
canonical
ensembl
ENSG00000068001
resolver
ensp
ENSP00000350387
resolver
ensp
ENSP00000378571
resolver
ensp
ENSP00000401853
resolver
ensp
ENSP00000406657
resolver
ensp
ENSP00000561619
resolver
ensp
ENSP00000561620
resolver
ensp
ENSP00000561621
resolver
ensp
ENSP00000561622
resolver
ensp
ENSP00000561623
resolver
ensp
ENSP00000615923
resolver
ensp
ENSP00000615924
resolver
ensp
ENSP00000615926
resolver
enst
ENST00000357750
resolver
enst
ENST00000395139
resolver
enst
ENST00000442581
resolver
enst
ENST00000447092
resolver
enst
ENST00000891560
resolver
enst
ENST00000891561
resolver
enst
ENST00000891562
resolver
enst
ENST00000891563
resolver
enst
ENST00000891564
resolver
enst
ENST00000945864
resolver
enst
ENST00000945865
resolver
enst
ENST00000945867
resolver
genesymbol
HYAL2
resolver
genesymbol_syn
LUCA2
resolver
hgnc
HGNC:5321
resolver
uniprot
B3KRZ2
resolver
uniprot
O15177
resolver
uniprot
Q9BW29
resolver
uniprot_entry
HYAL2_HUMAN
resolver
uniprot_sec
B3KRZ2
resolver
uniprot_sec
O15177
resolver
uniprot_sec
Q9BW29
resolver
amino_acid_sequence
MRAGPGPTVTLALVLAVSWAMELKPTAPPIFTGRPFVVAWDVPTQDCGPRLKVPLDLNAFDVQASPNEGFVNQNITIFYRDRLGLYPRFDSAGRSVHGGVPQNVSLWAHRKMLQKRVEHYIRTQESAGLAVIDWEDWRPVWVRNWQDKDVYRRLSRQLVASRHPDWPPDRIVKQAQYEFEFAAQQFMLETLRYVKAVRPRHLWGFYLFPDCYNHDYVQNWESYTGRCPDVEVARNDQLAWLWAESTALFPSVYLDETLASSRHGRNFVSFRVQEALRVARTHHANHALPVYVFTRPTYSRRLTGLSEMDLISTIGESAALGAAGVILWGDAGYTTSTETCQYLKDYLTRLLVPYVVNVSWATQYCSRAQCHGHGRCVRRNPSASTFLHLSTNSFRLVPGHAPGEPQLRPVGELSWADIDHLQTHFRCQCYLGWSGEQCQWDHRQAAGGASEAWAGSHLTSLLALAALAFTWTL
uniprot
proteins
disease_involvement
DISEASE: Muggenthaler-Chowdhury-Chioza syndrome (MCCS) [MIM:621063]: An autosomal recessive disorder characterized by distinctive craniofacial dysmorphism with frontal bossing, hypertelorism, a broad and flattened nasal tip, and cupped ears with superior helices. Other common but variable clinical manifestations are unilateral or bilateral cleft lip and palate, congenital cardiac anomalies, ocular features including mild to severe myopia and cataracts, single palmar crease, and pectus excavatum. {ECO:0000269|PubMed:26633546, ECO:0000269|PubMed:28081210, ECO:0000269|PubMed:34906488}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.35
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:28081210, ECO:0000269|PubMed:9712871}.
uniprot
proteins
mass_dalton
53860
uniprot
proteins
protein_family
Glycosyl hydrolase 56 family
uniprot
proteins
pubmed
11296287
uniprot
proteins
pubmed
11731268
uniprot
proteins
pubmed
12676986
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
26633546
uniprot
proteins
pubmed
28081210
uniprot
proteins
pubmed
34906488
uniprot
proteins
pubmed
9712871
uniprot
proteins
sequence_length
473
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11296287, ECO:0000269|PubMed:34906488}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:11296287}.
uniprot
proteins