UniProt | Protein Name |
---|---|
Q8IV08 |
|
GO Term | Evidence Code | PMID |
---|---|---|
immune system process | ||
inflammatory response | ||
myotube differentiation | ||
regulation of cytokine production involved in inflammatory response | ||
DNA metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
late endosome membrane | ||
lysosomal membrane | ||
lysosomal lumen | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
phospholipase D activity |
|
|
single-stranded DNA 5'-3' DNA exonuclease activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0080288 | spinocerebellar ataxia 46 | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 | |
DOID:0110039 | Alzheimer's disease 7 | |
DOID:0110041 | Alzheimer's disease 8 | |
DOID:0110043 | Alzheimer's disease 10 | |
DOID:0110044 | Alzheimer's disease 11 | |
DOID:0110045 | Alzheimer's disease 12 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000514 | Slow saccadic eye movements |
HP:0000639 | Nystagmus |
HP:0001260 | Dysarthria |
HP:0001272 | Cerebellar atrophy |
HP:0001310 | Dysmetria |
HP:0002066 | Gait ataxia |
HP:0002070 | Limb ataxia |
HP:0002403 | Positive Romberg sign |
HP:0003390 | Sensory axonal neuropathy |
Disease ID | Disease Name |
---|---|
OMIM:617770 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179105 | WB:WBGene00017316 | ||
35384 | FB:FBgn0032923 | ||
35387 | FB:FBgn0263050 | ||
102359839 | LATCH16692 | ||
571938 | ZFIN:ZDB-GENE-050419-212 | DANRE13881 | |
103043632 | ASTMX06315 | ||
108264303 | ICTPU28391 | ||
113580131 | ELEEL26090 | ||
105023064 | ESOLU01522 | ||
115163041 | SALTR98014 |
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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