UniProt | Protein Name |
---|---|
Q16394 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endochondral ossification | ||
sebaceous gland development | ||
protein-containing complex assembly | ||
sulfation | ||
cartilage development involved in endochondral bone morphogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
synapse | ||
catalytic complex | ||
Golgi apparatus |
GO Term | Evidence Code | PMID |
---|---|---|
heparan sulfate N-acetylglucosaminyltransferase activity | ||
protein homodimerization activity | ||
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | ||
metal ion binding | ||
acetylglucosaminyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | XP_216920 | XM_216920 |
Drosophila melanogaster | NP_477231 | NM_057883 |
Caenorhabditis elegans | NP_502180 | NM_069779 |
Mus musculus | NP_034292 | NM_010162 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050561 | Lennox-Gastaut syndrome | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060221 | Maffucci syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060262 | gallbladder disease | |
DOID:0060467 | humeroradial synostosis | |
DOID:0060672 | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | |
DOID:0060847 | Leri-Weill dyschondrosteosis | |
DOID:0080001 | bone disease | |
DOID:0080144 | childhood acute lymphocytic leukemia |
HPO ID | HPO Term |
---|---|
HP:0002673 | Coxa valga |
HP:0002750 | Delayed skeletal maturation |
HP:0002762 | Multiple exostoses |
HP:0002763 | Abnormal cartilage morphology |
HP:0002812 | Coxa vara |
HP:0002815 | Abnormality of the knee |
HP:0002823 | Abnormal femur morphology |
HP:0002857 | Genu valgum |
HP:0002991 | Abnormal fibula morphology |
HP:0002992 | Abnormal tibia morphology |
Disease ID | Disease Name |
---|---|
ORPHA:321 |
|
OMIM:215300 |
|
OMIM:133700 |
|
ORPHA:502 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102003237 | CHILA05604 | ||
108243943 | KRYMA19990 | ||
105710789 | AOTNA12306 | ||
101053444 | SAIBB21691 | ||
111222995 | SERDU08893 | ||
101538625 | SORAR11615 | ||
101972325 | ICTTR09447 | ||
103155379 | POEFO20614 | ||
101609010 | JACJA12961 | ||
118291744 | SCOMX19370 |
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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