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Bhlhe40 Gene Detail
Summary
  • Symbol
    Bhlhe40
  • Name
    basic helix-loop-helix family, member e40
  • Synonyms
    Bhlhb2, C130042M06Rik, Clast5, CR8, cytokine response gene 8, DEC1, eip1 (E47 interaction protein 1), Sharp2, Stra13, Stra14
  • Feature Type
    protein coding gene
  • IDs
    MGI:1097714
    NCBI Gene: 20893
  • Gene Overview
    MyGene.info: BHLHE40
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:108660629-108666925 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6297 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 49.85 cM, cytoband E-F1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    BHLHE40, basic helix-loop-helix family member e40
  • Vertebrate Orthologs
    9
  • Human Ortholog
    BHLHE40, basic helix-loop-helix family member e40
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BHLHB2, Clast5, DEC1, HLHB2, SHARP2, SHARP-2, STRA13, Stra14
  • Links
    NCBI Gene ID: 8553
    neXtProt AC: NX_O14503
    UniProt: O14503

  • Chr Location
    3p26.1; chr3:4979412-4985181 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 3 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    28 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 mutation of this gene results in impaired immune function and hyperplasia of the lymphoid organs. Aging mutant animals exhibit autoimmune disease.
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
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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
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000035997 VEGA Gene Model | MGI Sequence Detail 6297 C57BL/6J ±  kb
    transcript OTTMUST00000092370 VEGA | MGI Sequence Detail 3113 Not Applicable  
    polypeptide OTTMUSP00000051032 VEGA | MGI Sequence Detail 411 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      61 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 150
      Genomic 1
      cDNA 147
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2443526
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 21
      Gene Ontology 10
      Phenotypes 28
    • Earliest
      J:28316 Bouillet P, et al., Efficient cloning of cDNAs of retinoic acid-responsive genes in P19 embryonal carcinoma cells and characterization of a novel mouse gene, Stra1 (mouse LERK-2/Eplg2). Dev Biol. 1995 Aug;170(2):420-33
    • Latest
      J:261435 Hamilton KA, et al., Mice lacking the transcriptional regulator Bhlhe40 have enhanced neuronal excitability and impaired synaptic plasticity in the hippocampus. PLoS One. 2018;13(5):e0196223

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory