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Grhl3 Gene Detail
Summary
  • Symbol
    Grhl3
  • Name
    grainyhead like transcription factor 3
  • Synonyms
    ct, Get1, nmf231, Som
  • Feature Type
    protein coding gene
  • IDs
    MGI:2655333
    NCBI Gene: 230824
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:135541887-135573625 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 67.76 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    241 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2655333
protein coding gene Chr4:135541887-135573630 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028946
protein coding gene Chr4:137985516-138017228 (-)
A/J MGP_AJ_G0028905
protein coding gene Chr4:132154255-132185955 (-)
AKR/J MGP_AKRJ_G0028857
protein coding gene Chr4:135964197-135995934 (-)
BALB/cJ MGP_BALBcJ_G0028929
protein coding gene Chr4:132814292-132847181 (-)
C3H/HeJ MGP_C3HHeJ_G0028643
protein coding gene Chr4:136244335-136276060 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029370
protein coding gene Chr4:142911592-142947672 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026641
protein coding gene Chr4:125211625-125243237 (-)
CAST/EiJ MGP_CASTEiJ_G0028075
protein coding gene Chr4:134364955-134402014 (-)
CBA/J MGP_CBAJ_G0028608
protein coding gene Chr4:146817679-146849480 (-)
DBA/2J MGP_DBA2J_G0028757
protein coding gene Chr4:132572082-132603921 (-)
FVB/NJ MGP_FVBNJ_G0028724
protein coding gene Chr4:131493162-131524830 (-)
LP/J MGP_LPJ_G0028856
protein coding gene Chr4:138089383-138121130 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028750
protein coding gene Chr4:151126803-151159407 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029408
protein coding gene Chr4:136407396-136439334 (-)
PWK/PhJ MGP_PWKPhJ_G0027795
protein coding gene Chr4:129344079-129376026 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027621
protein coding gene Chr4:132233096-132265020 (-)
WSB/EiJ MGP_WSBEiJ_G0028153
protein coding gene Chr4:136585104-136618104 (-)



Homology
more
  • Human Ortholog
    GRHL3, grainyhead like transcription factor 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GRHL3, grainyhead like transcription factor 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SOM, TFCP2L4, VWS2
  • Links
    NCBI Gene ID: 57822
    neXtProt AC: NX_Q8TE85
    UniProt: Q8TE85

  • Chr Location
    1p36.11; chr1:24319322-24364482 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 18864
    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: GRHL3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Grhl3 mouse models; 1 with human GRHL3 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    65 phenotypes from 11 alleles in 19 genetic backgrounds
    33 phenotypes from multigenic genotypes
    1 images
    81 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 the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects.
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 230824 NCBI Gene Model | MGI Sequence Detail 31739 C57BL/6J ±  kb
    transcript NM_001013756 RefSeq | MGI Sequence Detail 2810 C57BL/6  
    polypeptide Q5FWH3 UniProt | EBI | MGI Sequence Detail 603 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 11
      Primer pair 6
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2211, MGI:2140331, MGI:88550
    References
    more
    • Summaries
      All 126
      Developmental Gene Expression 37
      Diseases 1
      Gene Ontology 15
      Phenotypes 81
    • Earliest
      J:264 Gruneberg H, Genetical studies on the skeleton of the mouse. VIII. Curly-tail. J Genet. 1954;52:52-67
    • Latest
      J:267222 Kimura-Yoshida C, et al., Cytoplasmic localization of GRHL3 upon epidermal differentiation triggers cell shape change for epithelial morphogenesis. Nat Commun. 2018 Oct 3;9(1):4059

    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
    01/15/2019
    MGI 6.13
    The Jackson Laboratory