NBEAL2

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

NBEAL2
Identifiers
AliasesNBEAL2, BDPLT4, GPS, neurobeachin like 2
External IDsOMIM: 614169 MGI: 2448554 HomoloGene: 86422 GeneCards: NBEAL2
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p21.31Start46,979,666 bp[1]
End47,009,704 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 9: 110.62 – 110.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

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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.
  • 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.


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