UniProt | Protein Name |
---|---|
Q8NCH0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dermatan sulfate proteoglycan metabolic process | ||
dermatan sulfate biosynthetic process | ||
carbohydrate biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
membrane | ||
extracellular exosome | ||
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
phosphate ion binding | ||
N-acetylgalactosamine 4-O-sulfotransferase activity | ||
sulfotransferase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Mus musculus | NP_082393 | NM_028117 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050646 | distal arthrogryposis | |
DOID:0060249 | scoliosis | |
DOID:0060287 | cornea plana | |
DOID:0060321 | umbilical hernia | |
DOID:0060327 | omphalocele | |
DOID:0060673 | Peters anomaly | |
DOID:0080736 | Ehlers-Danlos syndrome musculocontractural type 1 | |
DOID:0110106 | atrial heart septal defect 1 | |
DOID:0110107 | atrial heart septal defect 2 | |
DOID:0110108 | atrial heart septal defect 3 |
HPO ID | HPO Term |
---|---|
HP:0001581 | Recurrent skin infections |
HP:0001582 | Redundant skin |
HP:0001627 | Abnormal heart morphology |
HP:0001631 | Atrial septal defect |
HP:0001634 | Mitral valve prolapse |
HP:0001653 | Mitral regurgitation |
HP:0001654 | Abnormal heart valve morphology |
HP:0001659 | Aortic regurgitation |
HP:0001704 | Tricuspid valve prolapse |
HP:0001762 | Talipes equinovarus |
Disease ID | Disease Name |
---|---|
ORPHA:2953 |
|
OMIM:601776 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101073313 | TAKRU28112 | ||
110223711 | PHACI20172 | ||
101598094 | JACJA12364 | ||
103245830 | CHLSB12768 | ||
100582723 | NOMLE31775 | ||
107555762 | SINGR78002 | ||
107556138 | SINGR69047 | ||
105288634 | PTEVA14944 | ||
115042023 | ECHNA36329 | ||
115382010 | SALFA43525 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024