Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	90161
Gene name	Heparan sulfate 6-O-sulfotransferase 2
Gene symbol	HS6ST2
Synonyms (NCBI Gene)	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

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

Show/Hide all (98)

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

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GO ID	Ontology	Definition	Evidence
GO:0000139	Component	Golgi membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008146	Function	Sulfotransferase activity	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IBA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017095	Function	Heparan sulfate 6-sulfotransferase activity	IBA
GO:0017095	Function	Heparan sulfate 6-sulfotransferase activity	IEA
GO:0017095	Function	Heparan sulfate 6-sulfotransferase activity	TAS

MIM	HGNC	e!Ensembl
300545	19133	ENSG00000171004

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

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - heparan sulfate / heparin		HS-GAG biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Paganini-Miozzo syndrome	Pathogenic	rs866919041	RCV000782268	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HS6ST2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28983631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37932473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	23962103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33836688, 37932473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30471091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	23962103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21972422, 29899528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37932473	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29104277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23962103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	23962103, 36681777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30471091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30471091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30471091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	21972422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29113266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35905688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	30471091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	30471091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29899528	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	34895312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	30471091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29113266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35954218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HS6ST2 (heparan sulfate 6-O-sulfotransferase 2)