Grhl3 grainyhead like transcription factor 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Grhl3provided by MGI
Official Full Name: grainyhead like transcription factor 3provided by MGI
Primary source: MGI:MGI:2655333
See related: Ensembl:ENSMUSG00000037188 AllianceGenome:MGI:2655333
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ct; Som; Get1; Tfcp2l4
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in establishment of skin barrier; gene expression; and neural tube closure. Acts upstream of or within several processes, including cochlea morphogenesis; eyelid development in camera-type eye; and positive regulation of macromolecule biosynthetic process. Located in nucleus. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; heart; and hindlimb. Used to study Van der Woude syndrome. Orthologous to human GRHL3 (grainyhead like transcription factor 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in bladder adult (RPKM 30.0), limb E14.5 (RPKM 6.9) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 67.76 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (135269199..135300943, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (135541887..135573632, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects.
Title: Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects.
Inhibition of retinoic acid signaling impairs cranial and spinal neural tube closure in mice lacking the Grainyhead-like 3 transcription factor.
Title: Inhibition of retinoic acid signaling impairs cranial and spinal neural tube closure in mice lacking the Grainyhead-like 3 transcription factor.
GRHL3 activates FSCN1 to relax cell-cell adhesions between migrating keratinocytes during wound reepithelialization.
Title: GRHL3 activates FSCN1 to relax cell-cell adhesions between migrating keratinocytes during wound reepithelialization.
Loss of Grhl3 is correlated with altered cellular protrusions in the non-neural ectoderm during neural tube closure.
Title: Loss of Grhl3 is correlated with altered cellular protrusions in the non-neural ectoderm during neural tube closure.
Epithelial dynamics shed light on the mechanisms underlying ear canal defects.
Title: Epithelial dynamics shed light on the mechanisms underlying ear canal defects.
Murine interfollicular epidermal differentiation is gradualistic with GRHL3 controlling progression from stem to transition cell states.
Title: Murine interfollicular epidermal differentiation is gradualistic with GRHL3 controlling progression from stem to transition cell states.
Epithelial Migration and Non-adhesive Periderm Are Required for Digit Separation during Mammalian Development.
Title: Epithelial Migration and Non-adhesive Periderm Are Required for Digit Separation during Mammalian Development.
these data suggest that the Tfap2a-Irf6-Grhl3 genetic pathway is shared by two embryologically distinct morphogenetic events that previously were considered independent during mammalian development
Title: The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Deletion of the transcription factor GRHL3 in the skin initiates a chemokine responsive signal leading to keratinocytes hyperproliferation and a pro-tumorigenic state.
Title: Loss of GRHL3 leads to TARC/CCL17-mediated keratinocyte proliferation in the epidermis.
we observed a striking additive genetic interaction between Grhl2 and Grhl3 gain-of-function alleles. moderate Grhl3 overexpression also interacted with the Vangl2Lp allele to cause SB, demonstrating genetic interaction with the planar cell polarity signalling pathway that is implicated in mouse and human neural tube defects.
Title: Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Associated conditions

Description	Tests
curly tail GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Spontaneous (2)
Targeted (8) 1 citation

General gene information

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Markers

Grhl3 (e-PCR), detects polymorphism
- UniSTS:534574

Grhl3 (e-PCR), detects polymorphism
- UniSTS:531512

AI561912 (e-PCR)
- UniSTS:179089

Grhl3 (e-PCR), detects polymorphism
- UniSTS:547231

Grhl3 (e-PCR), detects polymorphism
- UniSTS:478954

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cochlea morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ectoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of planar polarity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eyelid development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of GTPase activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within wound healing	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within wound healing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: grainyhead-like protein 3 homolog

Names: sister-of-mammalian grainyhead; transcription factor CP2-like 4; transcription factor hSOM1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.