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Nbea Gene Detail
Summary
  • Symbol
    Nbea
  • Name
    neurobeachin
  • Synonyms
    mKIAA1544
  • Feature Type
    protein coding gene
  • IDs
    MGI:1347075
    NCBI Gene: 26422
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:55625195-56183701 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      558507 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 26.61 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    NBEA, neurobeachin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NBEA, neurobeachin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCL8B, LYST2
  • Links
    NCBI Gene ID: 26960
    neXtProt AC: NX_Q8NFP9
    UniProt: Q8NFP9

  • Chr Location
    13q13.3; chr13:34942287-35672737 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 69190
    1 human;1 mouse;1 rat;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NBEA
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nbea mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 2 alleles in 3 genetic backgrounds
    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
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.
Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission.
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 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000053045 VEGA Gene Model | MGI Sequence Detail 558507 C57BL/6J ±  kb
    transcript OTTMUST00000132685 VEGA | MGI Sequence Detail 10986 Not Applicable  
    polypeptide OTTMUSP00000070713 VEGA | MGI Sequence Detail 2936 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      3610 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 121
      cDNA 117
      Primer pair 4

      Microarray probesets 2
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 2
      Phenotypes 18
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:249357 Kurtenbach S, et al., The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia. Sci Rep. 2017 Aug 16;7(1):8409

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory