UniProt | Protein Name |
---|---|
Q9HC07 |
|
GO Term | Evidence Code | PMID |
---|---|---|
calcium ion transport | ||
protein N-linked glycosylation | ||
intracellular calcium ion homeostasis | ||
Golgi calcium ion homeostasis | ||
calcium ion transmembrane transport |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
cis-Golgi network membrane | ||
trans-Golgi network membrane | ||
lysosomal membrane | ||
Golgi apparatus |
GO Term | Evidence Code | PMID |
---|---|---|
antiporter activity | ||
calcium ion transmembrane transporter activity | ||
manganese 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:0050571 | congenital disorder of glycosylation type II | |
DOID:0060249 | scoliosis | |
DOID:0070263 | congenital disorder of glycosylation type IIk | |
DOID:0110052 | amelogenesis imperfecta type 1B | |
DOID:0110053 | amelogenesis imperfecta type 4 | |
DOID:0110054 | amelogenesis imperfecta type 1A | |
DOID:0110055 | amelogenesis imperfecta type 3A | |
DOID:0110056 | amelogenesis imperfecta type 1C | |
DOID:0110057 | amelogenesis imperfecta type 2A1 | |
DOID:0110058 | amelogenesis imperfecta type 1E |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000272 | Malar flattening |
HP:0000358 | Posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000705 | Amelogenesis imperfecta |
HP:0000939 | Osteoporosis |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001324 | Muscle weakness |
Disease ID | Disease Name |
---|---|
OMIM:614727 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
175368 | WB:WBGene00021847 | ||
8674000 | FB:FBgn0260659 | ||
103178170 | CALMI14895 | ||
102363414 | LATCH09740 | ||
324501 | ZFIN:ZDB-GENE-030131-3222 | DANRE19459 | |
103045178 | ASTMX11112 | ||
108257919 | ICTPU20162 | ||
113586388 | ELEEL36914 | ||
106560271 | SALSA10501 | ||
106584122 | SALSA85193 |
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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