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Nbeal2 Gene Detail
Summary
  • Symbol
    Nbeal2
  • Name
    neurobeachin-like 2
  • Synonyms
    1110014F23Rik, mKIAA0540
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448554
    NCBI Gene: 235627
Location & Maps
more
  • Sequence Map
    Chr9:110624789-110654161 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29373 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NBEAL2, neurobeachin like 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NBEAL2, neurobeachin like 2
    Orthology source: HomoloGene
  • Synonyms
    BDPLT4, GPS
  • Links
    NCBI Gene ID: 23218
    neXtProt AC: NX_Q6ZNJ1

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

Human Diseases
more
  • Diseases
    1 with Nbeal2 mouse models; 1 with human NBEAL2 associations

Human Disease Mouse Models
       Gray Platelet Syndrome; GPS   OMIM: 139090 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 2 alleles in 3 genetic backgrounds
    6 images
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    3
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    109 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 41
    cDNA 41

    Microarray probesets 5
Other
Accession IDs
less
MGI:1915854
References
more
  • Summaries
    All 32
    Diseases 2
    Gene Ontology 5
    Phenotypes 12
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory