About   Help   FAQ
Nbea Gene Detail
Summary
  • Symbol
    Nbea
  • Name
    neurobeachin
  • Synonyms
    mKIAA1544
  • Feature Type
    protein coding gene
  • IDs
    MGI:1347075
    NCBI Gene: 26422
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:55532616-56091122 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 26.61 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    13496 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1347075
 protein coding gene Chr3:55532616-56091169 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027225
 protein coding gene Chr3:54362838-54950490 (-)
A/J MGP_AJ_G0027185
 protein coding gene Chr3:52693410-53231407 (-)
AKR/J MGP_AKRJ_G0027155
 protein coding gene Chr3:53766602-54322059 (-)
BALB/cJ MGP_BALBcJ_G0027198
 protein coding gene Chr3:52530748-53088629 (-)
C3H/HeJ MGP_C3HHeJ_G0026941
 protein coding gene Chr3:53965444-54532038 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027644
 protein coding gene Chr3:56403543-56988832 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025002
 protein coding gene Chr3:49186851-49731091 (-)
CAST/EiJ MGP_CASTEiJ_G0026393
 protein coding gene Chr3:54119042-54699685 (-)
CBA/J MGP_CBAJ_G0026917
 protein coding gene Chr3:58235956-58834196 (-)
DBA/2J MGP_DBA2J_G0027051
 protein coding gene Chr3:52225740-52783013 (-)
FVB/NJ MGP_FVBNJ_G0027019
 protein coding gene Chr3:51217804-51764433 (-)
LP/J MGP_LPJ_G0027163
 protein coding gene Chr3:55069907-55652831 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027037
 protein coding gene Chr3:62311771-62960437 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027702
 protein coding gene Chr3:53680935-54261141 (-)
PWK/PhJ MGP_PWKPhJ_G0026125
 protein coding gene Chr3:51898131-52444171 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025938
 protein coding gene Chr3:53405440-53992145 (-)
WSB/EiJ MGP_WSBEiJ_G0026467
 protein coding gene Chr3:53806320-54381157 (-)



Homology
more
  • Human Ortholog
    NBEA, neurobeachin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NBEA, neurobeachin
  • Synonyms
    BCL8B, LYST2, NEDEGE
  • Links
    NCBI Gene ID: 26960
    neXtProt AC: NX_Q8NFP9
    UniProt: Q8NFP9

  • Chr Location
    13q13.3; chr13:34942270-35673022 (+)  GRCh38
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
    39 phenotypes from 3 alleles in 4 genetic backgrounds
    27 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
less
  • All GO Annotations
    25
  • GO References
    7
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
    774
  • Tissues
    37
  • cDNA Data
    116
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027799 Ensembl Gene Model | MGI Sequence Detail 558507 C57BL/6J ±  kb
    transcript ENSMUST00000029374 Ensembl | MGI Sequence Detail 10986 Not Applicable  
    polypeptide ENSMUSP00000029374 Ensembl | MGI Sequence Detail 2936 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 124
      cDNA 118
      Primer pair 6

      Microarray probesets 2
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 7
      Phenotypes 27
    • 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: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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory