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:0005916 | Abnormal metacarpal morphology |
HP:0005922 | Abnormal hand morphology |
HP:0005930 | Abnormal epiphysis morphology |
HP:0006009 | Broad phalanx |
HP:0006375 | Dumbbell-shaped femur |
HP:0006376 | Limited elbow flexion |
HP:0006385 | Short lower limbs |
HP:0006429 | Broad femoral neck |
HP:0006487 | Bowing of the long bones |
HP:0006646 | Costal cartilage calcification |
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 |
---|---|---|---|
100388764 | CALJA25925 | ||
105589871 | CERAT28141 | ||
102121787 | MACFA36689 | ||
709998 | MACMU37940 | ||
105466878 | MACNE08058 | ||
101010114 | PAPAN31527 | ||
105543438 | MANLE16402 | ||
101150948 | GORGO33190 | ||
100976756 | PANPA32912 | ||
742297 | PANTR36548 |
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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