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Bhlhe22 Gene Detail
Summary
  • Symbol
    Bhlhe22
  • Name
    basic helix-loop-helix family, member e22
  • Synonyms
    Beta3, Bhlhb5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930001
    NCBI Gene: 59058
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:18054325-18057514 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 4.98 cM, cytoband A2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    13 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1930001
protein coding gene Chr3:18054174-18057517 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027087
protein coding gene Chr3:15225697-15229040 (+)
A/J MGP_AJ_G0027048
protein coding gene Chr3:15149943-15153286 (+)
AKR/J MGP_AKRJ_G0027017
protein coding gene Chr3:15246301-15249641 (+)
BALB/cJ MGP_BALBcJ_G0027060
protein coding gene Chr3:14925960-14929303 (+)
C3H/HeJ MGP_C3HHeJ_G0026800
protein coding gene Chr3:15333034-15336377 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027504
protein coding gene Chr3:16239160-16242503 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024866
protein coding gene Chr3:13365987-13369335 (+)
CAST/EiJ MGP_CASTEiJ_G0026256
protein coding gene Chr3:15269232-15272574 (+)
CBA/J MGP_CBAJ_G0026778
protein coding gene Chr3:16557629-16560972 (+)
DBA/2J MGP_DBA2J_G0026912
protein coding gene Chr3:14754500-14757843 (+)
FVB/NJ MGP_FVBNJ_G0026881
protein coding gene Chr3:14450520-14453863 (+)
LP/J MGP_LPJ_G0027024
protein coding gene Chr3:15845758-15849101 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026901
protein coding gene Chr3:18556032-18559375 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027563
protein coding gene Chr3:15024880-15028223 (+)
PWK/PhJ MGP_PWKPhJ_G0025989
protein coding gene Chr3:14496216-14499558 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025796
protein coding gene Chr3:14858697-14862036 (+)
WSB/EiJ MGP_WSBEiJ_G0026329
protein coding gene Chr3:15095222-15098565 (+)



Homology
more
  • Human Ortholog
    BHLHE22, basic helix-loop-helix family member e22
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BHLHE22, basic helix-loop-helix family member e22
    Orthology source: HomoloGene, HGNC
  • Synonyms
    Beta3, Beta3a, BHLHB5, CAGL85, TNRC20
  • Links
    NCBI Gene ID: 27319
    neXtProt AC: NX_Q8NFJ8
    UniProt: Q8NFJ8

  • Chr Location
    8q12.3; chr8:64580238-64583634 (+)  GRCh38.p7

Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    27 phenotypes from 3 alleles in 9 genetic backgrounds
    7 phenotypes from multigenic genotypes
    15 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 a null mutation are slow to gain weight, develop skin lesions, have reduced numbers of specific subtypes of amacrine and cone bipolar cells, and exhibit abnormal innervation of the corticospinal tract.
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
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
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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 59058 NCBI Gene Model | MGI Sequence Detail 3190 C57BL/6J ±  kb
    transcript NM_021560 RefSeq | MGI Sequence Detail 3207 C57BL/6  
    polypeptide Q8C6A8 UniProt | EBI | MGI Sequence Detail 355 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR032654 Class E basic helix-loop-helix protein 22
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 2
      cDNA 12
      Primer pair 1
      Other 3

      Microarray probesets 5
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 72
      Diseases 1
      Gene Ontology 6
      Phenotypes 15
    • Earliest
      J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
    • Latest
      J:264379 Cardenas A, et al., Evolution of Cortical Neurogenesis in Amniotes Controlled by Robo Signaling Levels. Cell. 2018 Jul 26;174(3):590-606.e21

    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
    03/19/2019
    MGI 6.13
    The Jackson Laboratory