HYAL2

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HYAL2
Identifiers
AliasesHYAL2, LUCA2, hyaluronoglucosaminidase 2, hyaluronidase 2
External IDsMGI: 1196334 HomoloGene: 7776 GeneCards: HYAL2
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for HYAL2
Genomic location for HYAL2
Band3p21.31Start50,317,790 bp[1]
End50,322,906 bp[1]
RNA expression pattern
PBB GE HYAL2 206855 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003773
NM_033158

NM_010489

RefSeq (protein)

NP_003764
NP_149348

NP_034619

Location (UCSC)Chr 3: 50.32 – 50.32 MbChr 9: 107.57 – 107.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hyaluronidase-2 is an enzyme that in humans is encoded by the HYAL2 gene.[5][6][7]

This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. Varying functions have been described for this protein. It has been described as a lysosomal hyaluronidase which is active at a pH below 4 and specifically hydrolyzes high molecular weight hyaluronan. It has also been described as a GPI-anchored cell surface protein which does not display hyaluronidase activity but does serve as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[7]

One study found associations between cleft lip and palate and mutations in the HYAL2 gene.[8]

An investigation published in 2017, attributed an additional function to the Hyaluronidase 2 (HYAL2) protein. The study found interactions between HYAL2 and proteins involved in the alternative splicing of CD44 pre-mRNA,[9] suggesting a broader regulatory role for the HYAL2 protein in cell biology.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000068001 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010047 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Lepperdinger G, Strobl B, Kreil G (Sep 1998). "HYAL2, a human gene expressed in many cells, encodes a lysosomal hyaluronidase with a novel type of specificity". J Biol Chem. 273 (35): 22466–70. doi:10.1074/jbc.273.35.22466. PMID 9712871.
  6. ^ Strobl B, Wechselberger C, Beier DR, Lepperdinger G (Dec 1998). "Structural organization and chromosomal localization of Hyal2, a gene encoding a lysosomal hyaluronidase". Genomics. 53 (2): 214–9. doi:10.1006/geno.1998.5472. PMID 9790770.
  7. ^ a b "Entrez Gene: HYAL2 hyaluronoglucosaminidase 2".
  8. ^ Sandoiu, Ana (2017-01-17). "Scientists find genetic mutation that causes cleft lip and palate, heart defects". Medical News Today. Retrieved 2017-01-31.
  9. ^ Midgley, Adam C.; Oltean, Sebastian; Hascall, Vincent; Woods, Emma L.; Steadman, Robert; Phillips, Aled O.; Meran, Soma (2017-11-21). "Nuclear hyaluronidase 2 drives alternative splicing of CD44 pre-mRNA to determine profibrotic or antifibrotic cell phenotype". Science Signaling. 10 (506). doi:10.1126/scisignal.aao1822. ISSN 1937-9145. PMID 29162741.

Further reading[edit]