NBEAL2

NBEAL2
Identifiers
Aliases	NBEAL2 , BDPLT4, GPS, neurobeachin like 2
External IDs	OMIM: 614169 MGI: 2448554 HomoloGene: 86422 GeneCards: NBEAL2
Gene location (Human)
Chr.	Chromosome 3 (human)
End	47,009,704 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	110,483,229 bp
RNA expression pattern
	Top expressed in
	skin of abdomen; ; upper lobe of left lung; ; right lung; ; body of pancreas; ; spleen; ; minor salivary gland; ; monocyte; ; body of stomach; ; gallbladder; ; blood;
	Top expressed in
	thymus; ; corneal stroma; ; esophagus; ; lip; ; conjunctival fornix; ; Epithelium of stomach; ; medullary collecting duct; ; yolk sac; ; blood; ; pyloric antrum;
	More reference expression data
	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
	23218
	235627
	ENSG00000160796
	ENSMUSG00000056724
	Q6ZNJ1
	Q6ZQA0
	NM_015175 ; NM_001365116
	NM_183276
	NP_055990 ; NP_001352045
	NP_899099
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 04, 2023

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

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]

Related Research Articles

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<span class="mw-page-title-main">NBEAL1</span> Protein-coding gene in the species Homo sapiens

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000160796 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056724 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: Neurobeachin-like 2" . Retrieved 2011-12-30.
↑ Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH (August 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nat. Genet. 43 (8): 735–7. doi:10.1038/ng.885. PMC 3428934 . PMID 21765411.

NBEAL2

Contents

Function

Clinical relevance

Related Research Articles

References

Further reading