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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
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:108660629-108666925 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 49.85 cM, cytoband E-F1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    61 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1097714
protein coding gene Chr6:108660629-108666925 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031101
protein coding gene Chr6:110939180-110945488 (+)
A/J MGP_AJ_G0031070
protein coding gene Chr6:106733092-106739403 (+)
AKR/J MGP_AKRJ_G0031001
protein coding gene Chr6:109611408-109617713 (+)
BALB/cJ MGP_BALBcJ_G0031081
protein coding gene Chr6:106662273-106668581 (+)
C3H/HeJ MGP_C3HHeJ_G0030627
protein coding gene Chr6:74741918-74748259 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031540
protein coding gene Chr6:113850007-113856352 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028704
protein coding gene Chr6:104025383-104031695 (+)
CAST/EiJ MGP_CASTEiJ_G0030188
protein coding gene Chr6:109982255-109988565 (+)
CBA/J MGP_CBAJ_G0030767
protein coding gene Chr6:118230389-118239303 (+)
DBA/2J MGP_DBA2J_G0030920
protein coding gene Chr6:105870689-105877001 (+)
FVB/NJ MGP_FVBNJ_G0030874
protein coding gene Chr6:104903225-104910176 (+)
LP/J MGP_LPJ_G0031000
protein coding gene Chr6:110998761-111005130 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030908
protein coding gene Chr6:122460584-122467707 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031567
protein coding gene Chr6:109553116-109559425 (+)
PWK/PhJ MGP_PWKPhJ_G0029904
protein coding gene Chr6:104789421-104795985 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029732
protein coding gene Chr6:108345155-108351446 (+)
WSB/EiJ MGP_WSBEiJ_G0030272
protein coding gene Chr6:110097723-110104068 (+)



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
less
  • Phenotype Summary
    32 phenotypes from 3 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20893 NCBI Gene Model | MGI Sequence Detail 6297 C57BL/6J ±  kb
    transcript NM_011498 RefSeq | MGI Sequence Detail 3113 C57BL/6  
    polypeptide O35185 UniProt | EBI | MGI Sequence Detail 411 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 151
      Genomic 1
      cDNA 148
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2443526
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 23
      Gene Ontology 12
      Phenotypes 30
    • 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:265334 Huynh JP, et al., Bhlhe40 is an essential repressor of IL-10 during Mycobacterium tuberculosis infection. J Exp Med. 2018 Jul 2;215(7):1823-1838

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory