Nbeal2 neurobeachin-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nbeal2provided by MGI
Official Full Name: neurobeachin-like 2provided by MGI
Primary source: MGI:MGI:2448554
See related: Ensembl:ENSMUSG00000056724 AllianceGenome:MGI:2448554
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0540; 1110014F23Rik
Summary: Predicted to enable protein kinase binding activity. Acts upstream of or within blood coagulation; megakaryocyte development; and platelet alpha granule organization. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and membrane. Used to study gray platelet syndrome. Human ortholog(s) of this gene implicated in gray platelet syndrome. Orthologous to human NBEAL2 (neurobeachin like 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 58.1), colon adult (RPKM 27.1) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F2; 9 60.27 cM

Exon count:: 54

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (110453857..110483229, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (110624789..110654161, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Defective Zn(2+) homeostasis in mouse and human platelets with alpha- and delta-storage pool diseases.
Title: Defective Zn(2+) homeostasis in mouse and human platelets with α- and δ-storage pool diseases.
NBEAL2 is required for the retention of both endocytosed and megakaryocyte-synthesized proteins by maturing alpha-granules, and possibly by platelet-borne granules. This function may involve interaction of NBEAL2 with P-selectin.
Title: NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes.
Nbeal2 deficiency-resulting in gray platelet syndrome-affects platelets, neutrophils, and monocytes, with intact host defense but increased organ damage during gram-negative pneumosepsis.
Title: Nbeal2 Deficiency Increases Organ Damage but Does Not Affect Host Defense During Gram-Negative Pneumonia-Derived Sepsis.
this study shows that Nbeal2 regulates mast cell homeostasis
Title: The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis.
NBEAL2 has an essential role in neutrophil and NK cell function and pathogen defense
Title: NBEAL2 is required for neutrophil and NK cell function and pathogen defense.
Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice
Title: Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice.
NBEAL2 is required for normal platelet function and megakaryocyte development.
Title: Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within megakaryocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within platelet alpha granule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet formation	ISO Inferred from Sequence Orthology more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within wound healing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: neurobeachin-like protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_183276.2 → NP_899099.2 neurobeachin-like protein 2

Status: VALIDATED

Source sequence(s)

AC123811, AC132103

Consensus CDS

CCDS52939.1

UniProtKB/TrEMBL

B2RXS1, E9Q9L6

Related

ENSMUSP00000128586.2, ENSMUST00000167320.8

Conserved Domains (7) summary

COG2319
Location:2459 → 2709

WD40; WD40 repeat [General function prediction only]

cd01201
Location:1914 → 2039

PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins

pfam02138
Location:2062 → 2341

Beach; Beige/BEACH domain

pfam15787
Location:876 → 1125

DUF4704; Domain of unknown function (DUF4704)

pfam16057
Location:1590 → 1856

DUF4800; Domain of unknown function (DUF4800)

sd00039
Location:2459 → 2496

7WD40; WD40 repeat [structural motif]

cl02567
Location:2460 → 2614

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...