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Nbeal2
Gene Detail
Symbol

Name
ID
Nbeal2
neurobeachin-like 2
MGI:2448554
Synonyms
1110014F23Rik, mKIAA0540
Feature Type
protein coding gene
Genetic Map
Chromosome 9
60.27 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr9:110624789-110654161 bp, - strand
From VEGA annotation of GRCm38

  29373 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:86422  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NBEAL2
Gene Tree: Nbeal2

Human
homologs
NBEAL2, neurobeachin-like 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 23218
neXtProt AC: NX_Q6ZNJ1

Human Synonyms: BDPLT4, GPS

Human Chr (Location): 3p21.31; chr3:46979683-47009704 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NBEAL2

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome.
 
Human Diseases Modeled in Mice Using Nbeal2 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(6)
Interactions
Nbeal2 interacts with 118 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process blood coagulation, endosomal transport, ...
Component endomembrane system, endoplasmic reticulum, ...
Function phospholipid binding
External Resources: FuncBase
Expression
cDNA source data(41)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nbeal2    NEW 
Molecular
reagents
All nucleic(41) cDNA(41)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000032760 (Evidence)
Ensembl Gene Model ENSMUSG00000056724 (Evidence)
Entrez Gene 235627 (Evidence)
UniGene 335481
DFCI TC1587158, TC1597870, TC1698875
DoTS DT.529474, DT.94182130
NIA Mouse Gene Index U031369
Consensus CDS Project CCDS52939.1
International Mouse Phenotyping Consortium Status Nbeal2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032760 VEGA Gene Model | MGI Sequence Detail 29373 C57BL/6J ±  kb
transcript OTTMUST00000081549 VEGA | MGI Sequence Detail 8782 Not Applicable 
polypeptide OTTMUSP00000043650 VEGA | MGI Sequence Detail 2743 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(2) UniProt(10)
Polymorphisms
SNPs within 2kb(109 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR000409 BEACH domain
InterPro IPR013320 Concanavalin A-like lectin/glucanase domain
InterPro IPR026916 Neurobeachin-like protein 2
InterPro IPR023362 PH-BEACH domain
InterPro IPR001680 WD40 repeat
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000011012 neurobeachin-like protein 2
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:220801 Guerrero JA, et al., Gray platelet syndrome: proinflammatory megakaryocytes and alpha-granule loss cause myelofibrosis and confer metastasis resistance in mice. Blood. 2014 Dec 4;124(24):3624-35
All references(35)
Disease annotation references (2)
Other
accession IDs
MGI:1915854

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory