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 |
---|---|---|
secondary active sulfate transmembrane transporter activity | ||
chloride transmembrane transporter activity | ||
oxalate transmembrane transporter activity | ||
solute:inorganic anion antiporter activity | ||
sulfate 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:0008873 | Disproportionate short-limb short stature |
HP:0008905 | Rhizomelia |
HP:0008921 | Neonatal short-limb short stature |
HP:0009381 | Short finger |
HP:0009465 | Ulnar deviation of finger |
HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger |
HP:0009487 | Ulnar deviation of the hand |
HP:0009623 | Proximal placement of thumb |
HP:0009748 | Large earlobe |
HP:0009773 | Symphalangism affecting the phalanges of the hand |
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 |
---|---|---|---|
100388764 | CALJA25925 | ||
105589871 | CERAT28141 | ||
102121787 | MACFA36689 | ||
709998 | MACMU37940 | ||
105466878 | MACNE08058 | ||
101010114 | PAPAN31527 | ||
105543438 | MANLE16402 | ||
101150948 | GORGO33190 | ||
100976756 | PANPA32912 | ||
742297 | PANTR36548 |
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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