Protein-coding gene in the species Homo sapiens
| NBEAL2 |
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| Identifiers |
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| Aliases | NBEAL2, BDPLT4, GPS, neurobeachin like 2 |
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| External IDs | OMIM: 614169; MGI: 2448554; HomoloGene: 86422; GeneCards: NBEAL2; OMA:NBEAL2 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 3 (human)[1] |
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| | Band | 3p21.31 | Start | 46,979,666 bp[1] |
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| End | 47,009,704 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 9 (mouse)[2] |
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| | Band | 9|9 F2 | Start | 110,453,857 bp[2] |
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| End | 110,483,229 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | Top expressed in | - granulocyte
- thymus
- corneal stroma
- esophagus
- lip
- conjunctival fornix
- tibiofemoral joint
- epithelium of stomach
- medullary collecting duct
- yolk sac
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 3: 46.98 – 47.01 Mb | Chr 9: 110.45 – 110.48 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000160796 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "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.
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.
