HAS2

hyaluronan synthase 2

Summary

Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008]

Known Variants19 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7591886398:122,626,403A/Tuncertain significance
rs7754039058:122,626,418A/Tuncertain significance
rs7514535328:122,626,438C/Auncertain significance
rs12770859138:122,626,725C/Tuncertain significance
rs757356548:122,626,769G/Cbenign
rs1880959668:122,626,909T/Auncertain significance
rs18126790938:122,626,982T/Cuncertain significance
rs7457496058:122,627,008A/Cuncertain significance
rs12280946938:122,627,010C/Tuncertain significance
rs19050958:122,627,847C/A
rs7612857798:122,629,407C/Tuncertain significance
rs100890148:122,635,767C/Tintron variant
rs625249358:122,638,071C/Gintron variant
rs11648229548:122,641,040T/Cuncertain significance
rs1822993528:122,641,070C/Tuncertain significance
rs7517551668:122,641,160C/Tuncertain significance
rs12011608008:122,641,335G/Tuncertain significance
rs101110858:122,646,152G/T
rs43028488:122,650,378A/C

Gene information from NCBI Gene. Variant classifications from ClinVar.