UniProt | Protein Name |
---|---|
P16885 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of canonical NF-kappaB signal transduction | ||
positive regulation of interleukin-6 production | ||
phosphatidylinositol metabolic process | ||
phosphatidylinositol-mediated signaling | ||
positive regulation of receptor internalization |
GO Term | Evidence Code | PMID |
---|---|---|
phospholipase C activity |
|
|
scaffold protein binding | ||
protein kinase binding | ||
protein tyrosine kinase binding | ||
phosphotyrosine residue binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070138 | autosomal recessive cutis laxa type IIIB | |
DOID:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0070142 | autosomal dominant cutis laxa | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0080409 | familial adenomatous polyposis 1 | |
DOID:0090029 | CINCA Syndrome | |
DOID:0090061 | familial cold autoinflammatory syndrome | |
DOID:0090062 | familial cold autoinflammatory syndrome 1 | |
DOID:0090064 | familial cold autoinflammatory syndrome 3 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000403 | Recurrent otitis media |
HP:0000518 | Cataract |
HP:0000872 | Hashimoto thyroiditis |
HP:0000989 | Pruritus |
HP:0001045 | Vitiligo |
HP:0002099 | Asthma |
HP:0002720 | Decreased circulating IgA level |
HP:0002829 | Arthralgia |
HP:0002850 | Decreased circulating total IgM |
Disease ID | Disease Name |
---|---|
OMIM:614878 |
|
OMIM:614468 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101869948 | MELUD03407 | ||
100027579 | MONDO06305 | ||
102454220 | PELSI10714 | ||
100566814 | ANOCA08821 | ||
103662093 | URSMA21720 | ||
114034666 | VOMUR15548 | ||
113875494 | BOBOX13267 | ||
101072923 | TAKRU51554 | ||
105726497 | AOTNA12772 | ||
110212621 | PHACI28076 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024