UniProt | Protein Name |
---|---|
P43034 |
|
A0A6Q8PFU3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of dendritic spine morphogenesis | ||
positive regulation of mitotic cell cycle | ||
actin cytoskeleton organization | ||
hippocampus development | ||
osteoclast development |
GO Term | Evidence Code | PMID |
---|---|---|
stereocilium | ||
motile cilium | ||
nuclear envelope | ||
glutamatergic synapse | ||
1-alkyl-2-acetylglycerophosphocholine esterase complex |
GO Term | Evidence Code | PMID |
---|---|---|
heparin binding | ||
microtubule plus-end binding | ||
microtubule binding | ||
dynein complex binding | ||
dynein intermediate chain binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060422 | chromosome 6pter-p24 deletion syndrome | |
DOID:0060425 | chromosome 8q21.11 deletion syndrome | |
DOID:0060428 | SATB2-associated syndrome | |
DOID:0060432 | chromosome 17p13.3 duplication syndrome | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
DOID:0060479 | Shwachman-Diamond syndrome | |
DOID:0060732 | chromosome 9p deletion syndrome | |
DOID:0060763 | X-linked juvenile retinoschisis 1 | |
DOID:0060768 | Smith-Magenis syndrome | |
DOID:0060807 | syndromic X-linked intellectual disability Najm type |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000023 | Inguinal hernia |
HP:0000098 | Tall stature |
HP:0000112 | Nephropathy |
HP:0000160 | Narrow mouth |
HP:0000177 | Abnormal upper lip morphology |
HP:0000218 | High palate |
HP:0000253 | Progressive microcephaly |
HP:0000286 | Epicanthus |
HP:0000316 | Hypertelorism |
Disease ID | Disease Name |
---|---|
ORPHA:531 |
|
ORPHA:95232 |
|
OMIM:607432 |
|
ORPHA:217385 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
176758 | WB:WBGene00003047 | ||
36791 | FB:FBgn0015754 | ||
100180225 | CIOIN02815 | ||
103183306 | CALMI27056 | ||
102358277 | LATCH19345 | ||
102697914 | LEPOC08841 | ||
394246 | ZFIN:ZDB-GENE-040116-2 | DANRE08802 | |
394247 | ZFIN:ZDB-GENE-040116-3 | DANRE21776 | |
103030333 | ASTMX04395 | ||
103047044 | ASTMX13040 |
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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