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: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:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000028 | Cryptorchidism |
HP:0000175 | Cleft palate |
HP:0000218 | High palate |
HP:0000219 | Thin upper lip vermilion |
HP:0000256 | Macrocephaly |
HP:0000272 | Malar flattening |
HP:0000286 | Epicanthus |
HP:0000293 | Full cheeks |
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 |
---|---|---|---|
108710958 | Xenbase:XB-GENE-17330073 | ||
108713240 | Xenbase:XB-GENE-17330889 | ||
108713241 | Xenbase:XB-GENE-17330074 | ||
100494417 | Xenbase:XB-GENE-997399 | ||
101950986 | CHRPI02566 | ||
113433670 | PSETE03868 | ||
104913251 | MELGA04079 | ||
103817533 | SERCA12556 | ||
100075512 | ORNAN29403 | ||
100916422 | SARHA13108 |
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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