About   Help   FAQ
Nbeal2 Gene Detail
Summary
  • Symbol
    Nbeal2
  • Name
    neurobeachin-like 2
  • Synonyms
    1110014F23Rik, mKIAA0540
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448554
    NCBI Gene: 235627
  • Gene Overview
    MyGene.info: NBEAL2
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:110624789-110654161 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 60.27 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    109 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2448554
protein coding gene Chr9:110624789-110654161 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035352
protein coding gene Chr9:112790579-112819961 (-)
A/J MGP_AJ_G0035333
protein coding gene Chr9:108685194-108714574 (-)
AKR/J MGP_AKRJ_G0035264
protein coding gene Chr9:111384818-111414198 (-)
BALB/cJ MGP_BALBcJ_G0035328
protein coding gene Chr9:108434238-108463617 (-)
C3H/HeJ MGP_C3HHeJ_G0035036
protein coding gene Chr9:111893075-111922455 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035850
protein coding gene Chr9:115854209-115883580 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032736
protein coding gene Chr9:105904877-105934597 (-)
CAST/EiJ MGP_CASTEiJ_G0034342
protein coding gene Chr9:111687466-111716962 (-)
CBA/J MGP_CBAJ_G0035003
protein coding gene Chr9:120164325-120193809 (-)
DBA/2J MGP_DBA2J_G0035162
protein coding gene Chr9:108146367-108175749 (-)
FVB/NJ MGP_FVBNJ_G0035109
protein coding gene Chr9:106975552-107004934 (-)
LP/J MGP_LPJ_G0035241
protein coding gene Chr9:113083382-113112762 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035149
protein coding gene Chr9:121505966-121535346 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035870
protein coding gene Chr9:111724033-111753416 (-)
PWK/PhJ MGP_PWKPhJ_G0034049
protein coding gene Chr9:108392617-108422179 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033884
protein coding gene Chr9:111803321-111832852 (-)
WSB/EiJ MGP_WSBEiJ_G0034463
protein coding gene Chr9:111591231-111620599 (-)



Homology
more
  • Human Ortholog
    NBEAL2, neurobeachin like 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NBEAL2, neurobeachin like 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BDPLT4, GPS
  • Links
    NCBI Gene ID: 23218
    neXtProt AC: NX_Q6ZNJ1
    UniProt: Q6ZNJ1

  • Chr Location
    3p21.31; chr3:46979683-47009704 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 86422
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NBEAL2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nbeal2 mouse models; 1 with human NBEAL2 associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

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

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 235627 NCBI Gene Model | MGI Sequence Detail 29373 C57BL/6J ±  kb
transcript NM_183276 RefSeq | MGI Sequence Detail 8803 C57BL/6  
polypeptide Q6ZQA0 UniProt | EBI | MGI Sequence Detail 2742 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 42
    Genomic 1
    cDNA 41

    Microarray probesets 5
Other
Accession IDs
less
MGI:1915854
References
more
  • Summaries
    All 37
    Diseases 3
    Gene Ontology 4
    Phenotypes 18
  • 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:250821 Drube S, et al., The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis. J Immunol. 2017 Oct 15;199(8):2948-2957

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/06/2018
MGI 6.13
The Jackson Laboratory