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 region |
|
|
Golgi lumen |
|
|
perineuronal net | ||
synapse | ||
collagen-containing extracellular matrix |
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:0080047 | pseudoachondroplasia | |
DOID:0080109 | infantile myofibromatosis | |
DOID:0080332 | bicuspid aortic valve disease | |
DOID:0080333 | aortic valve disease 1 | |
DOID:0080334 | aortic valve disease 2 | |
DOID:0080349 | developmental and epileptic encephalopathy 39 | |
DOID:0080362 | X-linked spondyloepiphyseal dysplasia tarda | |
DOID:0080480 | peroxisome biogenesis disorder 5A | |
DOID:0090004 | progressive pseudorheumatoid arthropathy of childhood | |
DOID:0090032 | Silverman-Handmaker type dyssegmental dysplasia |
HPO ID | HPO Term |
---|---|
HP:0004322 | Short stature |
HP:0004482 | Relative macrocephaly |
HP:0005280 | Depressed nasal bridge |
HP:0005285 | Absent nasal bridge |
HP:0005616 | Accelerated skeletal maturation |
HP:0005930 | Abnormal epiphysis morphology |
HP:0007281 | Developmental stagnation |
HP:0008843 | Hip osteoarthritis |
HP:0008905 | Rhizomelia |
HP:0009381 | Short finger |
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 |
---|---|---|---|
101879658 | MELUD09194 | ||
100016782 | MONDO05376 | ||
114035776 | VOMUR03544 | ||
100953762 | OTOGA12876 | ||
105707611 | AOTNA11109 | ||
101045734 | SAIBB03193 | ||
101968499 | ICTTR14448 | ||
102438986 | MYOLU17069 | ||
100229255 | TAEGU01924 | ||
101808742 | FICAL05850 |
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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