HABP2

hyaluronan binding protein 2

Summary

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

Known Variants216 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2240880	10:115,312,606	A/G	—	benign
rs11575695	10:115,312,810	T/C	—	likely benign
rs2240879	10:115,312,811	T/C	—	likely benign
rs185066511	10:115,312,816	C/G	—	uncertain significance
rs151205492	10:115,312,823	G/C	—	likely benign
rs200192110	10:115,312,878	A/G	—	likely benign
rs775201613	10:115,312,895	G/A	—	uncertain significance
rs567136227	10:115,312,926	C/G	—	likely benign
rs1201322958	10:115,312,937	G/T	—	uncertain significance
rs374937964	10:115,312,939	C/T	—	uncertain significance
rs886046739	10:115,312,943	C/T	—	uncertain significance
rs10885474	10:115,326,939	A/C	—	benign
rs11196380	10:115,326,945	A/G	—	benign
rs10885475	10:115,326,950	C/G	—	benign
rs11575665	10:115,327,040	A/G	—	benign
rs11575666	10:115,327,048	C/G	—	benign
rs11575667	10:115,327,071	G/A	—	benign
rs11575668	10:115,327,084	A/G	—	benign
rs2286745	10:115,327,193	A/G	—	benign
rs7098547	10:115,327,205	G/C	—	likely benign
rs745740374	10:115,327,258	T/G	—	uncertain significance
rs1845222049	10:115,327,261	C/G	—	uncertain significance
rs148380665	10:115,327,263	T/G	—	uncertain significance
rs61867369	10:115,327,273	G/T	—	likely benign
rs2419837	10:115,327,399	G/A	—	benign
rs3900676	10:115,327,485	T/C	—	benign
rs2419815	10:115,327,487	A/C	—	benign
rs3885656	10:115,327,489	G/A	—	benign
rs7068395	10:115,327,527	G/A	—	benign
rs7068166	10:115,327,530	C/G	—	benign
rs3862019	10:115,328,950	T/C	intron variant	—
rs6585234	10:115,330,648	T/C	intron variant	—
rs1535427	10:115,333,751	A/T	—	benign
rs11575742	10:115,333,775	C/T	—	likely benign
rs7897068	10:115,333,828	A/G	—	likely benign
rs139657065	10:115,334,080	G/A	—	uncertain significance
rs113225892	10:115,334,089	A/T	—	uncertain significance
rs886046740	10:115,334,099	A/G	—	uncertain significance
rs187029293	10:115,334,118	T/A	—	conflicting classifications of pathogenicity
rs3740530	10:115,334,124	C/T	—	benign
rs139478887	10:115,334,148	C/T	—	conflicting classifications of pathogenicity
rs138662419	10:115,334,240	G/T	—	likely benign
rs11575744	10:115,334,293	A/G	—	likely benign
rs7090772	10:115,334,306	T/C	—	benign
rs112195921	10:115,334,378	G/A	—	likely benign
rs11575746	10:115,334,450	G/T	—	likely benign
rs1535426	10:115,335,423	G/T	—	benign
rs1343353	10:115,335,540	C/T	—	benign
rs11575749	10:115,335,684	C/T	—	likely benign
rs372177219	10:115,335,685	G/A	—	uncertain significance
rs772097319	10:115,335,691	G/A	—	uncertain significance
rs374774514	10:115,335,699	C/T	—	uncertain significance
rs11575750	10:115,335,700	G/A	—	likely benign
rs1845401249	10:115,335,707	G/C	—	uncertain significance
rs911709	10:115,335,843	A/G	—	benign
rs2419841	10:115,335,983	C/T	—	benign
rs114206232	10:115,335,999	A/G	—	likely benign
rs11575752	10:115,336,568	C/A	—	likely benign
rs2302374	10:115,336,758	C/A	—	benign
rs1845425763	10:115,336,899	T/G	—	uncertain significance
rs2493143161	10:115,336,909	T/C	—	uncertain significance
rs201282205	10:115,336,912	A/G	—	uncertain significance
rs770575545	10:115,336,918	C/T	—	uncertain significance
rs142164108	10:115,336,919	G/A	—	conflicting classifications of pathogenicity
rs78201625	10:115,336,941	C/T	—	likely benign
rs147689085	10:115,336,942	G/T	—	uncertain significance
rs149879864	10:115,336,964	G/C	—	uncertain significance
rs111397043	10:115,336,973	C/T	—	uncertain significance
rs930960271	10:115,336,975	A/C	—	uncertain significance
rs886046741	10:115,336,979	C/T	—	uncertain significance
rs770557273	10:115,336,980	C/T	—	uncertain significance
rs7086714	10:115,336,982	C/A	—	likely benign
rs149433570	10:115,337,004	A/G	—	uncertain significance
rs7086974	10:115,337,039	G/A	—	likely benign
rs7071251	10:115,337,341	T/C	—	benign
rs1885436	10:115,337,538	G/C	—	benign
rs11575753	10:115,337,677	G/A	—	likely benign
rs11575683	10:115,337,685	A/T	—	benign
rs11575754	10:115,337,701	T/C	—	likely benign
rs1169609462	10:115,337,802	C/T	—	uncertain significance
rs145891602	10:115,337,807	C/A	—	uncertain significance
rs1171514986	10:115,337,809	C/T	—	uncertain significance
rs374554126	10:115,337,823	G/A	—	uncertain significance
rs778566957	10:115,337,824	C/T	—	uncertain significance
rs142936446	10:115,337,833	C/T	—	likely benign
rs145980446	10:115,337,835	C/T	—	uncertain significance
rs956367134	10:115,337,852	C/G	—	uncertain significance
rs754504728	10:115,337,874	G/A	—	uncertain significance
rs371091192	10:115,337,886	G/A	—	uncertain significance
rs201266591	10:115,337,907	A/G	—	uncertain significance
rs11575755	10:115,337,913	C/T	—	likely benign
rs11575757	10:115,338,106	A/T	—	likely benign
rs2286744	10:115,338,305	T/C	—	benign
rs2493147133	10:115,338,395	A/T	—	uncertain significance
rs41292628	10:115,338,424	C/T	stop gained	—
rs1845461086	10:115,338,438	T/G	—	uncertain significance
rs11575759	10:115,338,450	C/T	—	likely benign
rs188451944	10:115,338,454	C/A	—	uncertain significance
rs529346597	10:115,338,458	C/T	—	uncertain significance
rs1030445013	10:115,338,480	C/A	—	uncertain significance

Showing 100 of 216 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.