neurobeachin-like 2

Symbol

NBEAL2 (may also be known as: None)

Organism

Human

Description

The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]

Orthologs

Symbol	Species
nbeal2	Danio rerio
Nbeal2	Mus musculus
Nbeal2	Rattus norvegicus

Links to external resources

Entrez Gene: 23218
OMIM: 614169
Ensembl: ENSG00000160796
UniProt: Q6ZNJ1
UniGene: Hs.437043
GeneCards

Changes associated with this gene

Identifier	Name	Type	Tissues	Organism	Gene	Data	Actions
DAA3714	Gene expression of NBEAL2 increases with age	Molecular	skin	Human	NBEAL2	—

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GO Terms

GO ID	GO Term	GO Category
GO:0030220	platelet formation	biological_process
GO:0005783	endoplasmic reticulum	cellular_component
GO:0005488	binding	molecular_function