UniProt | Protein Name |
---|---|
P50443 |
|
GO Term | Evidence Code | PMID |
---|---|---|
oxalate transport | ||
ossification | ||
chondrocyte proliferation | ||
bicarbonate transport | ||
chondrocyte differentiation |
GO Term | Evidence Code | PMID |
---|---|---|
microvillus membrane | ||
plasma membrane | ||
membrane |
|
|
apical plasma membrane | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
bicarbonate transmembrane transporter activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:11476 | osteoporosis | |
DOID:11527 | laryngostenosis | |
DOID:11569 | neurocirculatory asthenia | |
DOID:11836 | clubfoot | |
DOID:12028 | Conn's syndrome | |
DOID:12175 | dyshormonogenic goiter | |
DOID:12185 | otosclerosis | |
DOID:12721 | multiple epiphyseal dysplasia | |
DOID:12798 | mucopolysaccharidosis | |
DOID:12799 | mucopolysaccharidosis II |
HPO ID | HPO Term |
---|---|
HP:0003417 | Coronal cleft vertebrae |
HP:0003423 | Thoracolumbar kyphoscoliosis |
HP:0003440 | Horizontal sacrum |
HP:0003498 | Disproportionate short stature |
HP:0003510 | Severe short stature |
HP:0003577 | Congenital onset |
HP:0003826 | Stillbirth |
HP:0003864 | Bifid humerus |
HP:0004002 | Flattened radial epiphyses |
HP:0004037 | Abnormal ulnar epiphysis morphology |
Disease ID | Disease Name |
---|---|
OMIM:256050 |
|
OMIM:600972 |
|
OMIM:222600 |
|
ORPHA:628 |
|
OMIM:226900 |
|
ORPHA:93298 |
|
ORPHA:93307 |
|
ORPHA:56304 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179357 | WB:WBGene00013963 | ||
189085 | WB:WBGene00020914 | ||
189195 | WB:WBGene00012259 | ||
39996 | FB:FBgn0036770 | ||
103191307 | CALMI45344 | ||
102347458 | LATCH08051 | ||
557046 | ZFIN:ZDB-GENE-030717-3 | DANRE07491 | |
103047169 | ASTMX04717 | ||
108269293 | ICTPU34117 | ||
113573351 | ELEEL13196 |
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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