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:0060327 | omphalocele | |
DOID:0060359 | Sakati-Nyhan syndrome | |
DOID:0060380 | orofaciodigital syndrome X | |
DOID:0060599 | Nance-Horan syndrome | |
DOID:0060703 | Muenke Syndrome | |
DOID:0060744 | Pendred Syndrome | |
DOID:0070300 | multiple epiphyseal dysplasia 4 | |
DOID:0080055 | achondrogenesis type IB | |
DOID:0090001 | Fraser syndrome | |
DOID:0110213 | isolated cleft palate |
HPO ID | HPO Term |
---|---|
HP:0009778 | Short thumb |
HP:0009803 | Short phalanx of finger |
HP:0009824 | Upper limb undergrowth |
HP:0009826 | Limb undergrowth |
HP:0010049 | Short metacarpal |
HP:0010306 | Short thorax |
HP:0010582 | Irregular epiphyses |
HP:0010723 | Cystic lesions of the pinnae |
HP:0010743 | Short metatarsal |
HP:0011001 | Increased bone mineral density |
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 |
---|---|---|---|
100598575 | NOMLE23998 | ||
113160706 | ANATE25809 | ||
114590941 | PODMU16066 | ||
107575649 | SINGR102316 | ||
107598371 | SINGR39036 | ||
111580197 | AMPOC03681 | ||
109524275 | HIPCM01999 | ||
115049775 | ECHNA29197 | ||
115402547 | SALFA00839 | ||
103391050 | CYNSE09802 |
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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