UniProt | Protein Name |
---|---|
Q9C0K1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of membrane potential | ||
cartilage homeostasis | ||
cadmium ion transmembrane transport | ||
extracellular matrix organization | ||
negative regulation of canonical NF-kappaB signal transduction |
GO Term | Evidence Code | PMID |
---|---|---|
plasma membrane | ||
lysosomal membrane | ||
apical plasma membrane | ||
organelle membrane | ||
basolateral plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
monoatomic cation:bicarbonate symporter activity | ||
zinc:bicarbonate symporter activity | ||
zinc ion transmembrane transporter activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:3652 | Leigh disease | |
DOID:374 | nutrition disease | |
DOID:381 | arthropathy | |
DOID:399 | tuberculosis | |
DOID:4480 | achondroplasia | |
DOID:4674 | androgen insensitivity syndrome | |
DOID:5162 | arteriolosclerosis | |
DOID:5212 | congenital disorder of glycosylation | |
DOID:539 | ophthalmoplegia | |
DOID:540 | strabismus |
HPO ID | HPO Term |
---|---|
HP:0002119 | Ventriculomegaly |
HP:0002120 | Cerebral cortical atrophy |
HP:0002187 | Intellectual disability, profound |
HP:0002421 | Poor head control |
HP:0002465 | Poor speech |
HP:0002490 | Increased CSF lactate |
HP:0002521 | Hypsarrhythmia |
HP:0002540 | Inability to walk |
HP:0002719 | Recurrent infections |
HP:0002882 | Sudden episodic apnea |
Disease ID | Disease Name |
---|---|
ORPHA:468699 |
|
OMIM:616721 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179576 | WB:WBGene00006486 | ||
190312 | WB:WBGene00021936 | ||
103177624 | CALMI13419 | ||
100002893 | ZFIN:ZDB-GENE-050419-124 | ||
103035991 | ASTMX18111 | ||
108263549 | ICTPU27143 | ||
108277197 | ICTPU25300 | ||
105015842 | ESOLU44831 | ||
115161838 | SALTR56635 | ||
103458197 | POERE19436 |
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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