UniProt | Protein Name |
---|---|
O75787 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi lumen acidification |
|
|
synaptic vesicle lumen acidification | ||
central nervous system maturation | ||
head morphogenesis | ||
angiotensin maturation |
GO Term | Evidence Code | PMID |
---|---|---|
postsynaptic membrane | ||
ficolin-1-rich granule membrane |
|
|
proton-transporting V-type ATPase complex |
|
|
dendritic spine membrane | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
signaling receptor activity | ||
protein binding |
HPO ID | HPO Term |
---|---|
HP:0000047 | Hypospadias |
HP:0000298 | Mask-like facies |
HP:0000338 | Hypomimic face |
HP:0000341 | Narrow forehead |
HP:0000347 | Micrognathia |
HP:0000369 | Low-set ears |
HP:0000750 | Delayed speech and language development |
HP:0000952 | Jaundice |
HP:0000973 | Cutis laxa |
HP:0001249 | Intellectual disability |
Disease ID | Disease Name |
---|---|
ORPHA:363654 |
|
OMIM:300911 |
|
OMIM:301045 |
|
OMIM:300423 |
|
ORPHA:93952 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
107593087 | SINGR54909 | ||
116833979 | CHEAB11799 | ||
115061980 | ECHNA12642 | ||
115403613 | SALFA50805 | ||
105808447 | PROCO18760 | ||
103741955 | NANGA06100 | ||
116440309 | CORMO15358 | ||
115603788 | STRHB00316 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024