UniProt | Protein Name |
---|---|
O15357 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endochondral ossification | ||
immune system process | ||
negative regulation of insulin-like growth factor receptor signaling pathway | ||
regulation of protein localization |
|
|
regulation of immune response |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
filopodium | ||
cytosol | ||
basal plasma membrane | ||
nuclear speck |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | ||
SH2 domain binding | ||
actin binding | ||
protein binding | ||
SH3 domain binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050775 | schneckenbecken dysplasia | |
DOID:0060224 | atrial fibrillation | |
DOID:0060249 | scoliosis | |
DOID:0060849 | osteoporosis-pseudoglioma syndrome | |
DOID:0060870 | isolated growth hormone deficiency | |
DOID:0080001 | bone disease | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080348 | Alzheimer's disease 1 |
HPO ID | HPO Term |
---|---|
HP:0003180 | Flat acetabular roof |
HP:0003196 | Short nose |
HP:0003311 | Hypoplasia of the odontoid process |
HP:0003312 | Abnormal form of the vertebral bodies |
HP:0003510 | Severe short stature |
HP:0003577 | Congenital onset |
HP:0004279 | Short palm |
HP:0004565 | Severe platyspondyly |
HP:0005019 | Diaphyseal undertubulation |
HP:0005280 | Depressed nasal bridge |
Disease ID | Disease Name |
---|---|
ORPHA:3144 |
|
ORPHA:2746 |
|
OMIM:258480 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100943689 | OTOGA19031 | ||
101065901 | TAKRU03872 | ||
102026208 | CHILA03835 | ||
105720071 | AOTNA04424 | ||
101029956 | SAIBB06062 | ||
101967750 | ICTTR04853 | ||
101607200 | JACJA01921 | ||
102419220 | MYOLU08605 | ||
117030234 | RHIFE29586 | ||
100222899 | TAEGU09778 |
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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