HS6ST2 (heparan sulfate 6-O-sulfotransferase 2)

Gene

• Entrez ID: 90161
• Gene name: Heparan sulfate 6-O-sulfotransferase 2
• Gene symbol: HS6ST2
• Synonyms: MRXSPM
• Chromosome: X
• Chromosome location: Xq26.2
• Summary: Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs866919041	C>A,G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051597	hsa-let-7e-5p	CLASH	23622248
MIRT045821	hsa-miR-152-3p	CLASH	23622248
MIRT440485	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440485	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1055137	hsa-miR-2355-5p	CLIP-seq
MIRT1055138	hsa-miR-3148	CLIP-seq
MIRT1055139	hsa-miR-3190	CLIP-seq
MIRT1055140	hsa-miR-3911	CLIP-seq
MIRT1055141	hsa-miR-4470	CLIP-seq
MIRT1055142	hsa-miR-4761-5p	CLIP-seq
MIRT1055143	hsa-miR-548a-3p	CLIP-seq
MIRT1055144	hsa-miR-548e	CLIP-seq
MIRT1055145	hsa-miR-548f	CLIP-seq
MIRT1055146	hsa-miR-1252	CLIP-seq
MIRT1055147	hsa-miR-1257	CLIP-seq
MIRT1055148	hsa-miR-1265	CLIP-seq
MIRT1055149	hsa-miR-129-5p	CLIP-seq
MIRT739340	hsa-miR-140-3p	CLIP-seq
MIRT1055150	hsa-miR-2054	CLIP-seq
MIRT1055151	hsa-miR-2681	CLIP-seq
MIRT1055152	hsa-miR-3119	CLIP-seq
MIRT739343	hsa-miR-3120-3p	CLIP-seq
MIRT1055153	hsa-miR-3121-3p	CLIP-seq
MIRT1055154	hsa-miR-3140-3p	CLIP-seq
MIRT1055138	hsa-miR-3148	CLIP-seq
MIRT1055155	hsa-miR-320a	CLIP-seq
MIRT1055156	hsa-miR-320b	CLIP-seq
MIRT1055157	hsa-miR-320c	CLIP-seq
MIRT1055158	hsa-miR-320d	CLIP-seq
MIRT1055159	hsa-miR-362-5p	CLIP-seq
MIRT739342	hsa-miR-3942-5p	CLIP-seq
MIRT1055160	hsa-miR-4328	CLIP-seq
MIRT1055161	hsa-miR-4429	CLIP-seq
MIRT1055162	hsa-miR-4520a-3p	CLIP-seq
MIRT739341	hsa-miR-4703-5p	CLIP-seq
MIRT1055163	hsa-miR-4764-5p	CLIP-seq
MIRT1055164	hsa-miR-4790-3p	CLIP-seq
MIRT1055165	hsa-miR-500b	CLIP-seq
MIRT1055166	hsa-miR-501-5p	CLIP-seq
MIRT1055167	hsa-miR-502-5p	CLIP-seq
MIRT2012557	hsa-miR-145	CLIP-seq
MIRT2012558	hsa-miR-154	CLIP-seq
MIRT2012559	hsa-miR-1912	CLIP-seq
MIRT2012560	hsa-miR-198	CLIP-seq
MIRT2012561	hsa-miR-23a	CLIP-seq
MIRT2012562	hsa-miR-23b	CLIP-seq
MIRT2012563	hsa-miR-23c	CLIP-seq
MIRT2012564	hsa-miR-3130-5p	CLIP-seq
MIRT1055138	hsa-miR-3148	CLIP-seq
MIRT2012565	hsa-miR-3655	CLIP-seq
MIRT1055160	hsa-miR-4328	CLIP-seq
MIRT2012566	hsa-miR-4482	CLIP-seq
MIRT2012567	hsa-miR-578	CLIP-seq
MIRT2012568	hsa-miR-759	CLIP-seq
MIRT2244867	hsa-miR-1279	CLIP-seq
MIRT739340	hsa-miR-140-3p	CLIP-seq
MIRT2244868	hsa-miR-141	CLIP-seq
MIRT2244869	hsa-miR-144	CLIP-seq
MIRT2244870	hsa-miR-155	CLIP-seq
MIRT2244871	hsa-miR-194	CLIP-seq
MIRT2244872	hsa-miR-200a	CLIP-seq
MIRT2244873	hsa-miR-203	CLIP-seq
MIRT2244874	hsa-miR-219-2-3p	CLIP-seq
MIRT1055151	hsa-miR-2681	CLIP-seq
MIRT2244875	hsa-miR-2964a-3p	CLIP-seq
MIRT2244876	hsa-miR-300	CLIP-seq
MIRT739343	hsa-miR-3120-3p	CLIP-seq
MIRT2244877	hsa-miR-3160-5p	CLIP-seq
MIRT2244878	hsa-miR-329	CLIP-seq
MIRT2244879	hsa-miR-3607-3p	CLIP-seq
MIRT2244880	hsa-miR-3614-3p	CLIP-seq
MIRT2244881	hsa-miR-362-3p	CLIP-seq
MIRT2244882	hsa-miR-3662	CLIP-seq
MIRT2244883	hsa-miR-3667-3p	CLIP-seq
MIRT2244884	hsa-miR-3686	CLIP-seq
MIRT2244885	hsa-miR-3692	CLIP-seq
MIRT2244886	hsa-miR-370	CLIP-seq
MIRT2244887	hsa-miR-381	CLIP-seq
MIRT2244888	hsa-miR-3919	CLIP-seq
MIRT2244889	hsa-miR-3941	CLIP-seq
MIRT739342	hsa-miR-3942-5p	CLIP-seq
MIRT2244890	hsa-miR-4297	CLIP-seq
MIRT2244891	hsa-miR-4307	CLIP-seq
MIRT2244892	hsa-miR-4325	CLIP-seq
MIRT2244893	hsa-miR-4436b-5p	CLIP-seq
MIRT2244894	hsa-miR-4461	CLIP-seq
MIRT2244895	hsa-miR-4652-3p	CLIP-seq
MIRT2244896	hsa-miR-4680-3p	CLIP-seq
MIRT2244897	hsa-miR-4698	CLIP-seq
MIRT739341	hsa-miR-4703-5p	CLIP-seq
MIRT1055142	hsa-miR-4761-5p	CLIP-seq
MIRT2244898	hsa-miR-4793-5p	CLIP-seq
MIRT2244899	hsa-miR-4794	CLIP-seq
MIRT2244900	hsa-miR-488	CLIP-seq
MIRT2244901	hsa-miR-582-3p	CLIP-seq
MIRT2244902	hsa-miR-587	CLIP-seq
MIRT2244903	hsa-miR-603	CLIP-seq
MIRT2244904	hsa-miR-892b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0006024	Process	Glycosaminoglycan biosynthetic process	TAS
GO:0015015	Process	Heparan sulfate proteoglycan biosynthetic process, enzymatic modification	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0017095	Function	Heparan sulfate 6-O-sulfotransferase activity	IBA	21873635

Other IDs

• MIM: 300545
• HGNC: 19133
• e!Ensembl: ENSG00000171004

Protein

• UniProt ID: Q96MM7
• Protein name: Heparan-sulfate 6-O-sulfotransferase 2 (HS6ST-2) (EC 2.8.2.-)
• Protein function: 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. {ECO:0000269|PubMed:12492399, ECO:0000269|PubMed:30471091}
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03567	Sulfotransfer_2	219 → 491	Sulfotransferase family	Domain

• Sequence:

  MALPACAVREFEPPRQPERGAPVRTTCPRRHSRVEAELAASRPGSVAASVRAGPPRGVSH
  GFHTRPLLDKPRKASSSLAGAACAPLFALLSRGRRRRMHVLRRRWDLGSLCRALLTRGLA
  ALGHSLKHVLGAIFSKIFGPMASVGNMDEKSNKLLLALVMLFLFAVIVLQYVCPGTECQL
  LRLQAFSSPVPDPYRSEDESSARFVPRYNFTRGDLLRKVDFDIKGDDLIVFLHIQKTGGT
  TFGRHLVRNIQLEQPCECRVGQKKCTCHRPGKRETWLFSRFSTGWSCGLHADWTELTSCV
  PSVVDGKRDARLRPSRNFHYITILRDPVSRYLSEWRHVQRGATWKASLHVCDGRPPTSEE
  LPSCYTGDDWSGCPLKEFMDCPYNLANNRQVRMLSDLTLVGCYNLSVMPEKQRNKVLLES
  AKSNLKHMAFFGLTEFQRKTQYLFEKTFNMNFISPFTQYNTTRASSVEINEEIQKRIEGL
  NFLDMELYSYAKDLFLQRYQFMRQKEHQEARRKRQEQRKFLKGRLLQTHFQSQGQGQSQN
  PNQNQSQNPNPNANQNLTQNLMQNLTQSLSQKENRESPKQNSGKEQNDNTSNGTNDYIGS
  VEKWR

• Sequence length: 605

Pathways

KEGG:

Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Reactome:

HS-GAG biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023

Unknown
Disease name	Disease term	dbSNP ID	References
Malocclusion	Class III malocclusion
Microtia	Congenital small ears