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:0090104 | Huntington's disease-like 2 | |
DOID:0110892 | inflammatory bowel disease 1 | |
DOID:10003 | sensorineural hearing loss | |
DOID:1059 | intellectual disability | |
DOID:10763 | hypertension | |
DOID:10825 | essential hypertension | |
DOID:10908 | hydrocephalus | |
DOID:1094 | attention deficit hyperactivity disorder | |
DOID:11504 | autonomic neuropathy | |
DOID:11771 | spontaneous ocular nystagmus |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
HP:0000483 | Astigmatism |
HP:0000486 | Strabismus |
HP:0000540 | Hypermetropia |
HP:0000639 | Nystagmus |
HP:0000938 | Osteopenia |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
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