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Grhl2 Gene Detail
Summary
  • Symbol
    Grhl2
  • Name
    grainyhead-like 2 (Drosophila)
  • Synonyms
    0610015A08Rik, BOM, clft3, grainyheadlike, Tcfcp2l3
  • Feature Type
    protein coding gene
  • IDs
    MGI:2182543
    NCBI Gene: 252973
Location & Maps
more
  • Sequence Map
    Chr15:37233036-37363569 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      130534 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 14.84 cM, cytoband C
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    GRHL2, grainyhead like transcription factor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GRHL2, grainyhead like transcription factor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BOM, DFNA28, ECTDS, TFCP2L3
  • Links
    NCBI Gene ID: 79977
    neXtProt AC: NX_Q6ISB3

  • Chr Location
    8q22.3; chr8:101492406-101678098 (+)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 32616
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: GRHL2
  • Gene Tree
    Grhl2
Human Diseases
more
  • Diseases
    2 with human GRHL2 associations

Human Disease Mouse Models
       Deafness, Autosomal Dominant 28; DFNA28   OMIM: 608641
Ectodermal Dysplasia/Short Stature Syndrome; ECTDS   OMIM: 616029
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 6 alleles in 6 genetic backgrounds
    10 phenotypes from multigenic genotypes
    17 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
    53
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Gene trapped
    47
  • Targeted
    2
  • Genomic Mutations
    2 involving Grhl2
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Mice homozygous for a null mutation display embryonic lethality during organogenesis with cranioschisis, facial cleft, impaired neural fold elevation, and an open posterior neuropore.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    49
  • GO References
    11
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
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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
    523
  • Tissues
    319
  • cDNA Data
    42
  • Literature Summary
    17
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030880 VEGA Gene Model | MGI Sequence Detail 130534 C57BL/6J ±  kb
transcript OTTMUST00000076417 VEGA | MGI Sequence Detail 4947 Not Applicable  
polypeptide OTTMUSP00000040224 VEGA | MGI Sequence Detail 625 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1209 from dbSNP Build 142
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000008230 grainyhead-like protein 2
  • InterPro Domains
    IPR007604 CP2 transcription factor
Molecular
Reagents
less
  • All nucleic 48
    cDNA 45
    Primer pair 2
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1915242, MGI:5056362
References
more
  • Summaries
    All 50
    Developmental Gene Expression 17
    Gene Ontology 11
    Phenotypes 17
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:226925 Menke C, et al., Grhl2 is required in nonneural tissues for neural progenitor survival and forebrain development. Genesis. 2015 Jul 14;
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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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory