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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
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:0050156 | idiopathic pulmonary fibrosis | |
| DOID:0111843 | Paganini-Miozzo syndrome | |
| DOID:10534 | stomach cancer | |
| DOID:1059 | intellectual disability | |
| DOID:11830 | myopia | |
| DOID:1324 | lung cancer | |
| DOID:2797 | idiopathic interstitial pneumonia | |
| DOID:381 | arthropathy | |
| DOID:3910 | lung adenocarcinoma | |
| DOID:5517 | stomach carcinoma |
- 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 | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 105481428 | MACNE30646 | ||
| 101017502 | PAPAN43428 | ||
| 105545776 | MANLE12856 | ||
| 101135929 | GORGO43872 | ||
| 100978573 | PANPA42118 | ||
| 473786 | PANTR46811 | ||
| 100439955 | PONAB37408 | ||
| 492142 | CANLF20167 | ||
| 105259675 | FELCA38719 | ||
| 100054266 | HORSE43601 |
