UniProt | Protein Name |
---|---|
P15328 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of canonical Wnt signaling pathway | ||
neural crest cell migration involved in heart formation | ||
sperm-egg recognition | ||
heart looping | ||
fusion of sperm to egg plasma membrane involved in single fertilization |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
ER to Golgi transport vesicle membrane |
|
|
endoplasmic reticulum-Golgi intermediate compartment membrane |
|
|
endosome | ||
transport vesicle |
|
GO Term | Evidence Code | PMID |
---|---|---|
folic acid receptor activity | ||
folic acid binding | ||
signaling receptor activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060580 | Noonan syndrome 2 | |
DOID:0060581 | Noonan syndrome 3 | |
DOID:0060582 | Noonan syndrome 4 | |
DOID:0060583 | Noonan syndrome 5 | |
DOID:0060584 | Noonan syndrome 6 | |
DOID:0060585 | Noonan syndrome 7 | |
DOID:0060586 | Noonan syndrome 8 | |
DOID:0060587 | Noonan syndrome 9 | |
DOID:0060588 | Noonan syndrome 10 | |
DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0002180 | Neurodegeneration |
HP:0002376 | Developmental regression |
Disease ID | Disease Name |
---|---|
OMIM:613068 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115052942 | ECHNA06478 | ||
115053400 | ECHNA06478 | ||
105811513 | PROCO15044 | ||
109053182 | CYPCA93309 | ||
116439008 | CORMO14680 | ||
116440445 | CORMO14831 | ||
115603634 | STRHB01395 | ||
115604319 | STRHB01446 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024