About   Help   FAQ
Bhlhe41 Gene Detail
Summary
  • Symbol
    Bhlhe41
  • Name
    basic helix-loop-helix family, member e41
  • Synonyms
    6430520M22Rik, Bhlhb3, DEC2, Sharp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930704
    NCBI Gene: 79362
  • Gene Overview
    MyGene.info: BHLHE41
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:145858243-145865420 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 77.70 cM, cytoband G2-G3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    50 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1930704
 protein coding gene Chr6:145858243-145865558 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031483
 protein coding gene Chr6:150890810-150898113 (-)
A/J MGP_AJ_G0031458
 protein coding gene Chr6:144912354-144919697 (-)
AKR/J MGP_AKRJ_G0031386
 protein coding gene Chr6:149221621-149228931 (-)
BALB/cJ MGP_BALBcJ_G0031466
 protein coding gene Chr6:144662982-144670287 (-)
C3H/HeJ MGP_C3HHeJ_G0031187
 protein coding gene Chr6:149269344-149276773 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031927
 protein coding gene Chr6:154944530-154951912 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029051
 protein coding gene Chr6:143647761-143655059 (-)
CAST/EiJ MGP_CASTEiJ_G0030555
 protein coding gene Chr6:148900687-148908062 (-)
CBA/J MGP_CBAJ_G0031147
 protein coding gene Chr6:160821893-160829211 (-)
DBA/2J MGP_DBA2J_G0031303
 protein coding gene Chr6:143701542-143708847 (-)
FVB/NJ MGP_FVBNJ_G0031255
 protein coding gene Chr6:142429308-142436596 (-)
LP/J MGP_LPJ_G0031388
 protein coding gene Chr6:150990479-150997774 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031295
 protein coding gene Chr6:164600023-164607329 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031960
 protein coding gene Chr6:149054700-149062003 (-)
PWK/PhJ MGP_PWKPhJ_G0030282
 protein coding gene Chr6:142206161-142213576 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030106
 protein coding gene Chr6:147210210-147217475 (-)
WSB/EiJ MGP_WSBEiJ_G0030648
 protein coding gene Chr6:149669147-149676481 (-)



Homology
more
  • Human Ortholog
    BHLHE41, basic helix-loop-helix family member e41
  • Vertebrate Orthologs
    2
  • Human Ortholog
    BHLHE41, basic helix-loop-helix family member e41
    Orthology source: HGNC
  • Synonyms
    BHLHB3, DEC2, hDEC2, SHARP1
  • Links
    NCBI Gene ID: 79365
    neXtProt AC: NX_Q9C0J9
    UniProt: Q9C0J9

  • Chr Location
    12p12.1; chr12:26120026-26125070 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    8 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.
Mice homozygous for one knock-out allele exhibit delayed circadian phase. Mice homozygous for another knock-out allele exhibit impaired TH2 differentiation in response to numerous stimuli.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    56
  • GO References
    15
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 population 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
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
    165
  • Tissues
    146
  • cDNA Data
    33
  • Literature Summary
    5
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 79362 NCBI Gene Model | MGI Sequence Detail 7178 C57BL/6J ±  kb
transcript NM_001271768 RefSeq | MGI Sequence Detail 6124 C57BL/6  
polypeptide Q99PV5 UniProt | EBI | MGI Sequence Detail 410 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 34
    cDNA 33
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:1355306, MGI:2442594
References
more
  • Summaries
    All 54
    Developmental Gene Expression 5
    Gene Ontology 15
    Phenotypes 8
  • Earliest
    J:58265 Li J, et al., Leukaemia disease genes: large-scale cloning and pathway predictions [see comments]. Nat Genet. 1999 Nov;23(3):348-53
  • Latest
    J:265734 Numata A, et al., The basic helix-loop-helix transcription factor SHARP1 is an oncogenic driver in MLL-AF6 acute myelogenous leukemia. Nat Commun. 2018 Apr 24;9(1):1622
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
01/08/2019
MGI 6.13 		The Jackson Laboratory