NBEAL2

Neurobeachin-like 2 is a protein that in humans is encoded by the NBEAL2 gene.^[5]

NBEAL2
Identifiers
Aliases	NBEAL2, BDPLT4, GPS, neurobeachin like 2
External IDs	OMIM: 614169; MGI: 2448554; HomoloGene: 86422; GeneCards: NBEAL2; OMA:NBEAL2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p21.31 Start 46,979,666 bp[1] End 47,009,704 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 F2 Start 110,453,857 bp[2] End 110,483,229 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte skin of abdomen skin of leg upper lobe of left lung right lung body of pancreas spleen minor salivary glands monocyte body of stomach Top expressed in granulocyte thymus corneal stroma esophagus lip conjunctival fornix tibiofemoral joint epithelium of stomach medullary collecting duct yolk sac More reference expression data BioGPS n/a
Gene ontology Molecular function phospholipid binding protein binding Cellular component endoplasmic reticulum membrane plasma membrane tertiary granule membrane ficolin-1-rich granule membrane Biological process platelet formation neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23218 235627 Ensembl ENSG00000160796 ENSMUSG00000056724 UniProt Q6ZNJ1 Q6ZQA0 RefSeq (mRNA) NM_015175 NM_001365116 NM_183276 RefSeq (protein) NP_055990 NP_001352045 NP_899099 Location (UCSC) Chr 3: 46.98 – 47.01 Mb Chr 9: 110.45 – 110.48 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[5]

Clinical relevance

Mutation in this gene have been shown to cause gray platelet syndrome.^[6]