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:0014667 | disease of metabolism | |
DOID:0050581 | brachydactyly | |
DOID:0050648 | atelosteogenesis | |
DOID:0060185 | Clostridium difficile colitis | |
DOID:0060229 | Baraitser-Winter syndrome | |
DOID:0060232 | branchiootic syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060316 | orofaciodigital syndrome I | |
DOID:0060320 | inguinal hernia | |
DOID:0060321 | umbilical hernia |
HPO ID | HPO Term |
---|---|
HP:0002007 | Frontal bossing |
HP:0002089 | Pulmonary hypoplasia |
HP:0002093 | Respiratory insufficiency |
HP:0002176 | Spinal cord compression |
HP:0002205 | Recurrent respiratory infections |
HP:0002514 | Cerebral calcification |
HP:0002515 | Waddling gait |
HP:0002644 | Abnormal pelvic girdle bone morphology |
HP:0002650 | Scoliosis |
HP:0002652 | Skeletal dysplasia |
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 |
---|---|---|---|
100556372 | ANOCA03179 | ||
107082690 | CYPVA04653 | ||
114027840 | VOMUR08700 | ||
100952772 | OTOGA18379 | ||
102785415 | NEOBR17714 | ||
102019592 | CHILA04746 | ||
108243959 | KRYMA20022 | ||
105717014 | AOTNA00127 | ||
110192814 | PHACI31525 | ||
101039305 | SAIBB23094 |
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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