UniProt | Protein Name |
---|---|
P16112 |
|
GO Term | Evidence Code | PMID |
---|---|---|
skeletal system development | ||
proteolysis |
|
|
glial cell differentiation | ||
central nervous system development | ||
positive regulation of neuroblast proliferation |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular space | ||
lysosomal lumen |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular matrix structural constituent conferring compression resistance | ||
hyaluronic acid binding | ||
metal ion binding | ||
carbohydrate binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:6457 | Cowden syndrome | |
DOID:65 | connective tissue disease | |
DOID:6590 | spondylitis | |
DOID:6688 | autoimmune lymphoproliferative syndrome | |
DOID:6713 | cerebrovascular disease | |
DOID:676 | juvenile rheumatoid arthritis | |
DOID:684 | hepatocellular carcinoma | |
DOID:7148 | rheumatoid arthritis | |
DOID:758 | situs inversus | |
DOID:786 | laryngeal disease |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000272 | Malar flattening |
HP:0000303 | Mandibular prognathia |
HP:0000358 | Posteriorly rotated ears |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000470 | Short neck |
HP:0000926 | Platyspondyly |
HP:0001156 | Brachydactyly |
Disease ID | Disease Name |
---|---|
ORPHA:171866 |
|
ORPHA:435804 |
|
OMIM:608361 |
|
OMIM:165800 |
|
OMIM:612813 |
|
ORPHA:93283 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108535782 | RHIBE19388 | ||
104661607 | RHIRO28613 | ||
116450302 | CORMO03088 | ||
103273187 | CARSF02287 | ||
115613125 | STRHB23096 |
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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