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Grhl3 Gene Detail
Summary
  • Symbol
    Grhl3
  • Name
    grainyhead-like 3 (Drosophila)
  • Synonyms
    ct, Get1, nmf231, Som
  • Feature Type
    protein coding gene
  • IDs
    MGI:2655333
    NCBI Gene: 230824
Location & Maps
more
  • Sequence Map
    Chr4:135541888-135573630 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      31743 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 67.76 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    GRHL3, grainyhead like transcription factor 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GRHL3, grainyhead like transcription factor 3
    Orthology source: HomoloGene
  • Synonyms
    SOM, TFCP2L4, VWS2
  • Links
    NCBI Gene ID: 57822
    neXtProt AC: NX_Q8TE85

  • Chr Location
    1p36.11; chr1:24319322-24364482 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 18864
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
       Van Der Woude Syndrome 2; VWS2   OMIM: 606713 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
    63 phenotypes from 11 alleles in 19 genetic backgrounds
    29 phenotypes from multigenic genotypes
    1 images
    74 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.
  • All Mutations and Alleles
    76
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    59
  • Spontaneous
    2
  • Targeted
    11
  • Transgenic
    1
  • Genomic Mutations
    3 involving Grhl3
  • Incidental Mutations
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009727 VEGA Gene Model | MGI Sequence Detail 31743 C57BL/6J ±  kb
transcript OTTMUST00000022462 VEGA | MGI Sequence Detail 2789 Not Applicable  
polypeptide OTTMUSP00000010245 VEGA | MGI Sequence Detail 603 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    241 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000008231 grainyhead-like protein 3
  • InterPro Domains
    IPR007604 CP2 transcription factor
Molecular
Reagents
less
  • All nucleic 19
    cDNA 11
    Primer pair 6
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-2211, MGI:2140331, MGI:88550
References
more
  • Summaries
    All 104
    Developmental Gene Expression 22
    Diseases 1
    Gene Ontology 14
    Phenotypes 74
  • Earliest
    J:264 Gruneberg H, Genetical studies on the skeleton of the mouse. VIII. Curly-tail. J Genet. 1954;52:52-67
  • Latest
    J:233531 Cangkrama M, et al., Two Ancient Gene Families Are Critical for Maintenance of the Mammalian Skin Barrier in Postnatal Life. J Invest Dermatol. 2016 Jul;136(7):1438-48

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory