Gene Gene information from NCBI Gene database.
Entrez ID 9653
Gene name Heparan sulfate 2-O-sulfotransferase 1
Gene symbol HS2ST1
Synonyms (NCBI Gene)
2-OSTNFSRAdJ604K5.2
Chromosome 1
Chromosome location 1p22.3
Summary Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that trans
miRNA miRNA information provided by mirtarbase database.
554
miRTarBase ID miRNA Experiments Reference
MIRT022975 hsa-miR-124-3p Microarray 18668037
MIRT023971 hsa-miR-1-3p Microarray 18668037
MIRT032481 hsa-let-7b-5p Proteomics 18668040
MIRT242651 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT523137 hsa-miR-205-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0004394 Function Heparan sulfate 2-sulfotransferase activity IBA
GO:0004394 Function Heparan sulfate 2-sulfotransferase activity IEA
GO:0004394 Function Heparan sulfate 2-sulfotransferase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604844 5193 ENSG00000153936
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7LGA3
Protein name Heparan sulfate 2-O-sulfotransferase 1 (EC 2.8.2.-) (2-O-sulfotransferase) (2-OST) (2OST) (HS 2-O-sulfotransferase) (Heparan sulfate 2-sulfotransferase)
Protein function Catalyzes the transfer of a sulfo group from 3'-phospho-5'-adenylyl sulfate (PAPS) to the 2-OH position of iduronic acid (IdoA) or glucuronic acid (GlcA) within the heparan sulfate (HS) chain and participates in HS biosynthesis (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03567 Sulfotransfer_2 66 327 Sulfotransferase family Domain
Sequence
Sequence length 356
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - heparan sulfate / heparin   HS-GAG biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurofacioskeletal syndrome with or without renal agenesis Pathogenic rs758990524, rs1660112720, rs1651973144 RCV001292560
RCV001292561
RCV001292562
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS Pathogenic rs1651459410, rs1651972168 RCV001292558
RCV001292559
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HS2ST1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 33159882 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32573871 Associate
★☆☆☆☆
Found in Text Mining only
Contracture Contracture Pubtator 33159882 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 33159882 Associate
★☆☆☆☆
Found in Text Mining only
Dry Eye Syndromes Dry eye syndrome Pubtator 19011014 Associate
★☆☆☆☆
Found in Text Mining only
Eosinophilia Eosinophilia BEFREE 29621420
★☆☆☆☆
Found in Text Mining only
Facial Dysmorphism with Multiple Malformations Facial dysmorphism syndrome Pubtator 33159882 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 29104277 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 33159882 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 33159882 Associate
★☆☆☆☆
Found in Text Mining only