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ProteomicsCharacterisation of NBEAL2 interactome in HEK293T cells
Variants in NBEAL2 are causal of Grey Platelet Syndrome (GPS), a rare bleeding disorder characterized by absence of alpha- and specific- granules in platelets and neutrophils, respectively. The role of the scaffolding multidomain NBEAL2 protein in cell biology and granule homeostasis is unknown. We ...
ORGANISM(S): Homo sapiens (Human) 
2018-02-14 | PXD006091 | Pride
Protein interactions Tandem affinity purification Nbeal2 
GenomicsNBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells
PRJNA806033 | ENA
TranscriptomicsNBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells
Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanism, which might be related to the proteins NBEAL2 interacts w...
ORGANISM(S): Homo sapiens 
2023-05-12 | GSE196606 | GEO
UnknownNbeal2 interacts with Dock7, Sec16a, and Vac14.
Not available
S-EPMC5877783 | biostudies-literature
GenomicsGene expression analysis of murine wt and Nbeal2 -/- bone marrow derived mast cells (BMMCs) w/o IL-33 treatment
Gene expression analysis of murine wt and Nbeal2 -/- bone marrow derived mast cells (BMMCs) w/o IL-33 treatment
PRJNA937170 | ENA
UnknownNBEAL2 is required for neutrophil and NK cell function and pathogen defense.
Not available
S-EPMC5669559 | biostudies-literature
TranscriptomicsGene expression analysis of murine wt and Nbeal2 -/- bone marrow derived mast cells (BMMCs) w/o IL-33 treatment
The Neurobeachin-like 2 (Nbeal2) protein is a BEACH (beige and chediak-higashi) family member. Loss of function mutations of the human NBEAL2 gene result in development of the gray platelet syndrome (GPS) a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-gra...
ORGANISM(S): Mus musculus 
2024-02-06 | GSE225692 | GEO
UnknownGray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.
Not available
S-EPMC4011026 | biostudies-literature
UnknownSpontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice.
Not available
S-EPMC4780761 | biostudies-literature
UnknownNBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Not available
S-EPMC10287742 | biostudies-literature
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