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: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:0000316 | Hypertelorism |
HP:0000331 | Short chin |
HP:0000343 | Long philtrum |
HP:0000347 | Micrognathia |
HP:0000363 | Abnormal earlobe morphology |
HP:0000365 | Hearing impairment |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000377 | Abnormal pinna morphology |
HP:0000396 | Overfolded helix |
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