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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
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:108637590-108643886 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 49.85 cM, cytoband E-F1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    173 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 Chr6:108637590-108643886 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BHLHE40, basic helix-loop-helix family member e40
  • Synonyms
    BHLHB2, Clast5, DEC1, HLHB2, SHARP-2, SHARP2, STRA13, Stra14
  • Links
    NCBI Gene ID: 8553
    neXtProt AC: NX_O14503
    UniProt: O14503

  • Chr Location
    3p26.1; chr3:4979437-4985323 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    35 phenotypes from 3 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    68 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
less
  • All GO Annotations
    48
  • GO References
    13
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
    890
  • Tissues
    128
  • cDNA Data
    148
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 153
      Genomic 1
      cDNA 148
      Primer pair 3
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2443526
    References
    more
    • Summaries
      All 144
      Developmental Gene Expression 29
      Gene Ontology 13
      Phenotypes 68
    • 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:350433 Lin L, et al., DEC1 deficiency protects against bone loss induced by ovariectomy through inhibiting inflammation. J Biomed Res. 2024 May 25;:1-16
    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)
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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory