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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
heparan sulfate 6-O-sulfotransferase 2
Summary
- Gene Symbol
-
- HS6ST2
- Aliases
-
- HS6ST-2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Glycoprotein
- Intellectual disability
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96MM7 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| heparan sulfate proteoglycan biosynthetic process, enzymatic modification |
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| heparan sulfate 6-O-sulfotransferase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- heparan sulfate 6-O-sulfotransferase
- Functional Category
-
- G: Carbohydrate transport and metabolism
- H: Coenzyme transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
| Gene Ontology |
|---|
| heparan sulfate 6-O-sulfotransferase activity |
| heparan sulfate proteoglycan biosynthetic process, enzymatic modification |
| sulfotransferase activity |
| transferase activity |
| InterPro |
|---|
| Heparan sulphate 6-sulfotransferase/Protein-tyrosine sulfotransferase |
| P-loop containing nucleoside triphosphate hydrolase |
| Sulfotransferase |
GlycoGene Database (GGDB)
- GGDB ID
- gg032
- Gene Symbol
-
- HS6ST2
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | XP_228683 | XM_228683 |
| Mus musculus | NP_056634 | NM_015819 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111843 | Paganini-Miozzo syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0001263 | Global developmental delay |
| HP:0001419 | X-linked recessive inheritance |
| HP:0002003 | Large forehead |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002465 | Poor speech |
| HP:0002714 | Downturned corners of mouth |
| HP:0003348 | Hyperalaninemia |
| HP:0006956 | Lateral ventricle dilatation |
| Disease ID | Disease Name |
|---|---|
| OMIM:301025 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 42380 | FB:FBgn0038755 | |||
| 50786 | MGI:1354959 | MOUSE65490 | ||
| 302489 | RGD:1564397 | RATNO44695 | ||
| 378450 | ZFIN:ZDB-GENE-030909-14 | |||
| 473786 | 9598_0:0057c5 | PANTR46811 | ||
| 492142 | CANLF20167 | |||
| 517768 | BOVIN36330 | |||
| 706326 | MACMU47159 | |||
| 100054266 | HORSE43601 | |||
| 100398118 | CALJA47519 |
