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Helt Gene Detail
Summary
  • Symbol
    Helt
  • Name
    helt bHLH transcription factor
  • Synonyms
    Heslike, megane
  • Feature Type
    protein coding gene
  • IDs
    MGI:3040955
    NCBI Gene: 234219
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:46292043-46294671 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 26.32 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    34 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3040955
protein coding gene Chr8:46292039-46294671 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033587
protein coding gene Chr8:45392127-45394752 (-)
A/J MGP_AJ_G0033569
protein coding gene Chr8:43631196-43633817 (-)
AKR/J MGP_AKRJ_G0033494
protein coding gene Chr8:44925475-44928096 (-)
BALB/cJ MGP_BALBcJ_G0033566
protein coding gene Chr8:43812984-43815605 (-)
C3H/HeJ MGP_C3HHeJ_G0033275
protein coding gene Chr8:45451669-45454290 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034082
protein coding gene Chr8:47098072-47100693 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031031
protein coding gene Chr8:39899625-39902204 (-)
CAST/EiJ MGP_CASTEiJ_G0032601
protein coding gene Chr8:44890255-44892887 (-)
CBA/J MGP_CBAJ_G0033254
protein coding gene Chr8:49001833-49004454 (-)
DBA/2J MGP_DBA2J_G0033407
protein coding gene Chr8:43444582-43447203 (-)
FVB/NJ MGP_FVBNJ_G0033348
protein coding gene Chr8:42930851-42933472 (-)
LP/J MGP_LPJ_G0033495
protein coding gene Chr8:45394355-45396976 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033393
protein coding gene Chr8:49083440-49086061 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034100
protein coding gene Chr8:45078962-45081590 (-)
PWK/PhJ MGP_PWKPhJ_G0032309
protein coding gene Chr8:42973166-42975795 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032145
protein coding gene Chr8:44241624-44244238 (-)
WSB/EiJ MGP_WSBEiJ_G0032717
protein coding gene Chr8:45336055-45338704 (-)



Homology
more
  • Human Ortholog
    HELT, helt bHLH transcription factor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HELT, helt bHLH transcription factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bHLHb44, HCM1228, HESL, Mgn
  • Links
    NCBI Gene ID: 391723
    neXtProt AC: NX_A6NFD8
    UniProt: A6NFD8

  • Chr Location
    4q35.1; chr4:185018841-185021265 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 18357
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: HELT
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    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 a null allele show loss of GABAergic neurons in the superior colliculus, limb cramping, seizures, impaired suckling, reduced growth and death between 2 and 5 wks of age. Mice homozygous for a reporter allele show loss of GABAergic neurons and increased glutamatergic generation.
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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 234219 NCBI Gene Model | MGI Sequence Detail 2629 C57BL/6J ±  kb
    transcript NM_173789 RefSeq | MGI Sequence Detail 1548 BALB/c  
    polypeptide Q7TS99 UniProt | EBI | MGI Sequence Detail 240 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 11
      Primer pair 3
      Other 1

      Microarray probesets 1
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 26
      Gene Ontology 8
      Phenotypes 8
    • Earliest
      J:89485 Nakatani T, et al., Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system. J Biol Chem. 2004 Apr 16;279(16):16356-67
    • Latest
      J:273627 Thompson J, et al., A cleft lip and palate gene, Irf6, is involved in osteoblast differentiation of craniofacial bone. Dev Dyn. 2019 Mar;248(3):221-232

    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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    last database update
    10/08/2019
    MGI 6.14
    The Jackson Laboratory