NBEAL2

NBEAL2
Identifiers
Aliases	NBEAL2, BDPLT4, GPS, neurobeachin like 2
External IDs	OMIM: 614169; MGI: 2448554; 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
	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
	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
Databases	NCBI: entry; OMA: entry
	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

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

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.

Clinical relevance

Mutation in this gene have been shown to cause gray platelet syndrome.

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, et al. (July 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nature Genetics. 43 (8): 735–737. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.

So HC, Fong PY, Chen RY, Hui TC, Ng MY, Cherny SS, et al. (January 2010). "Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 153B (1): 103–113. doi:10.1002/ajmg.b.30961. PMID 19367581. S2CID 20522961.
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, et al. (July 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nature Genetics. 43 (8): 735–737. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000160796 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056724 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: Neurobeachin-like 2". Retrieved 2011-12-30.

[pmid21765411-6] Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, et al. (July 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nature Genetics. 43 (8): 735–737. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.

NBEAL2

Function

Clinical relevance

References

Further reading