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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:110453857-110483229 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 60.27 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    584 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 Chr9:110453857-110483229 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NBEAL2, neurobeachin like 2
  • Synonyms
    BDPLT4, GPS
  • Links
    NCBI Gene ID: 23218
    neXtProt AC: NX_Q6ZNJ1
    UniProt: Q6ZNJ1

  • Chr Location
    3p21.31; chr3:46979666-47009704 (+)  GRCh38
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
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    6 images
    30 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
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
neoplasm
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
    14
  • GO References
    6
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    41
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 52
      Diseases 3
      Gene Ontology 6
      Phenotypes 30
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory