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:0040085 | bacterial sepsis | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050741 | alcohol dependence | |
DOID:0050742 | nicotine dependence | |
DOID:0050835 | generalized dystonia | |
DOID:0050841 | focal hand dystonia | |
DOID:0060192 | Crohn's colitis | |
DOID:0060224 | atrial fibrillation |
HPO ID | HPO Term |
---|---|
HP:0008347 | Decreased activity of mitochondrial complex IV |
HP:0008873 | Disproportionate short-limb short stature |
HP:0009826 | Limb undergrowth |
HP:0010621 | Cutaneous syndactyly of toes |
HP:0012301 | Type II transferrin isoform profile |
HP:0012368 | Flat face |
HP:0012707 | Elevated brain lactate level by MRS |
HP:0012736 | Profound global developmental delay |
Disease ID | Disease Name |
---|---|
ORPHA:468699 |
|
OMIM:616721 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113894082 | BOBOX03910 | ||
100950746 | OTOGA06480 | ||
101069036 | TAKRU35962 | ||
102019081 | CHILA20398 | ||
105706301 | AOTNA12133 | ||
108432418 | PYGNA15686 | ||
103150062 | POEFO15436 | ||
101595856 | JACJA14522 | ||
102435441 | MYOLU08335 | ||
117022606 | RHIFE18543 |
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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