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
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 110,624,789 bp[2] End 110,654,161 bp[2]
Gene ontology Molecular function • phospholipid binding • GO:0001948 protein binding Cellular component • endoplasmic reticulum • membrane • cell 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: 110.62 – 110.65 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000160796 - Ensembl, May 2017
2. 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.
5. "Entrez Gene: Neurobeachin-like 2". Retrieved 2011-12-30.
6. 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.

Further reading

• So, H. C.; Fong, P. Y.; Chen, R. Y. L.; Hui, T. C. K.; Ng, M. Y. M.; Cherny, S. S.; Mak, W. W. M.; Cheung, E. F. C.; Chan, R. C. K.; Chen, E. Y. H.; Li, T.; Sham, P. C. (2009). "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. 153B (1): 103–113. doi:10.1002/ajmg.b.30961. PMID 19367581. S2CID 20522961.
• Albers, C. A.; Cvejic, A.; Favier, R. M.; Bouwmans, E. E.; Alessi, M. C.; Bertone, P.; Jordan, G.; Kettleborough, R. N. W.; Kiddle, G.; Kostadima, M.; Read, R. J.; Sipos, B.; Sivapalaratnam, S.; Smethurst, P. A.; Stephens, J.; Voss, K.; Nurden, A.; Rendon, A.; Nurden, P.; Ouwehand, W. H. (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.