NBEAL2

NBEAL2
Identifiers
Aliases	NBEAL2 , BDPLT4, GPS, neurobeachin like 2
External IDs	OMIM: 614169; MGI: 2448554; HomoloGene: 86422; GeneCards: NBEAL2; OMA:NBEAL2 - orthologs
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
	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 October 06, 2024

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

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis. The name derives from the initial observation of gray appearance of platelets with a paucity of granules on blood films from a patient with a lifelong bleeding disorder.

Platelet-activating factor acetylhydrolase IB subunit alpha or Lisencephaly protein-1 (LIS-1) is an enzyme that in humans is encoded by the PAFAH1B1 gene. The protein plays an important role in regulating the motor protein dynein.

The thrombopoietin receptor also known as the myeloproliferative leukemia protein or CD110 is a protein that in humans is encoded by the MPL oncogene.

Pallidin is a protein that in humans is encoded by the PLDN gene.

BCL-6 corepressor is a protein that in humans is encoded by the BCOR gene.

Zinc finger and BTB domain-containing protein 20 is a protein that in humans is encoded by the ZBTB20 gene.

Myosin-3 is a protein that in humans is encoded by the MYH3 gene.

Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.

Unconventional myosin-XV is a protein that in humans is encoded by the MYO15A gene.

Zing finger protein 644 (ZNF644) also known as zinc finger motif enhancer-binding protein 2 (Zep-2) is a protein that in humans is encoded by the ZNF644 gene.

NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene. Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.

Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.

Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.

AFG3 ATPase family gene 3-like 2 is a protein that in humans is encoded by the AFG3L2 gene.

Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene. The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.

Dynactin subunit 4 is a protein that in humans is encoded by the DCTN4 gene.

Phosphatidylinositol glycan anchor biosynthesis, class N is a protein that in humans is encoded by the PIGN gene.

ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.

NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is involved in the assembly of complex I in the mitochondrial electron transport chain. Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.

Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1) is a protein that in humans is encoded by the SMCHD1 gene. Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS).

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.

NBEAL2

Contents

Function

Clinical relevance

Related Research Articles

References

Further reading