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Bhlhe23 Gene Detail
Summary
  • Symbol
    Bhlhe23
  • Name
    basic helix-loop-helix family, member e23
  • Synonyms
    A930001L02Rik, BETA4, beta-cell E-box transactivating factor 4, Bhlhb4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153710
    NCBI Gene: 140489
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Chr2:180416174-180418693 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 103.34 cM, cytoband H3-H4
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    132 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153710
 protein coding gene Chr2:180416174-180418693 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027003
 protein coding gene Chr2:187330015-187332534 (-)
A/J MGP_AJ_G0026969
 protein coding gene Chr2:179621988-179624507 (-)
AKR/J MGP_AKRJ_G0026939
 protein coding gene Chr2:185008261-185010780 (-)
BALB/cJ MGP_BALBcJ_G0026978
 protein coding gene Chr2:180083329-180085848 (-)
C3H/HeJ MGP_C3HHeJ_G0026719
 protein coding gene Chr2:185359268-185361787 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027424
 protein coding gene Chr2:192728174-192730693 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024789
 protein coding gene Chr2:170314047-170316562 (-)
CAST/EiJ MGP_CASTEiJ_G0026178
 protein coding gene Chr2:183605779-183608270 (-)
CBA/J MGP_CBAJ_G0026696
 protein coding gene Chr2:199731734-199734253 (-)
DBA/2J MGP_DBA2J_G0026834
 protein coding gene Chr2:178716322-178718841 (-)
FVB/NJ MGP_FVBNJ_G0026800
 protein coding gene Chr2:177333579-177336098 (-)
LP/J MGP_LPJ_G0026935
 protein coding gene Chr2:187331478-187333997 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026819
 protein coding gene Chr2:202322483-202325002 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027483
 protein coding gene Chr2:184963926-184966445 (-)
PWK/PhJ MGP_PWKPhJ_G0025914
 protein coding gene Chr2:176230014-176232524 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025714
 protein coding gene Chr2:181466461-181468981 (-)
WSB/EiJ MGP_WSBEiJ_G0026250
 protein coding gene Chr2:185951516-185954035 (-)



Homology
more
  • Human Ortholog
    BHLHE23, basic helix-loop-helix family member e23
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BHLHE23, basic helix-loop-helix family member e23
  • Synonyms
    bA305P22.3, Beta3b, BETA4, BHLHB4
  • Links
    NCBI Gene ID: 128408
    neXtProt AC: NX_Q8NDY6
    UniProt: Q8NDY6

  • Chr Location
    20q13.33; chr20:63005927-63007035 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    7 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 knock-out allele display a severe deficit in retinal activity characterized by improper retinal rod bipolar cell maturation, loss of the scotopic ERG b-wave, and a significant increase in inner nuclear layer (INL) cell apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    8
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
    916
  • Tissues
    175
  • cDNA Data
    10
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 140489 NCBI Gene Model | MGI Sequence Detail 2520 C57BL/6J ±  kb
    transcript NM_080641 RefSeq | MGI Sequence Detail 2520 ZRU/MplStud  
    polypeptide Q8BGW3 UniProt | EBI | MGI Sequence Detail 223 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000004739 class E basic helix-loop-helix protein 23
      (term hierarchy)
    • InterPro Domains
      IPR050359 Basic helix-loop-helix transcription factors
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 1
      cDNA 10
      Primer pair 3
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2442178
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 19
      Gene Ontology 8
      Phenotypes 7
    • Earliest
      J:73895 Bramblett DE, et al., BHLHB4 Is a bHLH Transcriptional Regulator in Pancreas and Brain That Marks the Dimesencephalic Boundary. Genomics. 2002 Mar;79(3):402-12
    • Latest
      J:278245 Guo Q, et al., Defining developmental diversification of diencephalon neurons through single cell gene expression profiling. Development. 2019 Apr 1;146(12):dev174284
    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