Entity Details

Primary name HS6ST2
Entity type gene
Source Source Link

Details

PrimaryID90161
RefseqGeneNG_012840
SymbolHS6ST2
Nameheparan sulfate 6-O-sulfotransferase 2
ChromosomeX
LocationXq26.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-07-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsH6ST2_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0006024 glycosaminoglycan biosynthetic process
GO:0015015 heparan sulfate proteoglycan biosynthetic process, enzymatic modification
GO:0016021 integral component of membrane
GO:0017095 heparan sulfate 6-O-sulfotransferase activity

Diseases

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Disease IDSourceNameDescription
301025 OMIMPaganini-Miozzo syndrome (MRXSPM)An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

10 interactions