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.
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 |
---|---|---|---|
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