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

Gene ID: 230824, updated on 8-Feb-2024

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 and neural tube closure. Acts upstream of or within several processes, including morphogenesis of an epithelium; positive regulation of macromolecule metabolic process; and sensory organ development. 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, Apr 2022]
Expression
Biased expression in bladder adult (RPKM 30.0), limb E14.5 (RPKM 6.9) and 1 other tissue See more
Orthologs
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Genomic context

See Grhl3 in Genome Data Viewer
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_000070.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:134982608-134982761 Neighboring gene regulator of calcineurin 3 Neighboring gene microRNA 700 Neighboring gene STARR-positive B cell enhancer ABC_E9603 Neighboring gene STARR-positive B cell enhancer ABC_E1286 Neighboring gene NIPA-like domain containing 3 Neighboring gene STARR-positive B cell enhancer mm9_chr4:135050361-135050662 Neighboring gene STARR-seq mESC enhancer starr_11721 Neighboring gene sperm tail PG rich repeat containing 1 Neighboring gene STARR-seq mESC enhancer starr_11724 Neighboring gene STARR-positive B cell enhancer ABC_E6235 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:135126769-135126952 Neighboring gene STARR-seq mESC enhancer starr_11727 Neighboring gene predicted gene, 30888 Neighboring gene STARR-seq mESC enhancer starr_11728 Neighboring gene STARR-seq mESC enhancer starr_11730 Neighboring gene RIKEN cDNA 1700029M20 gene Neighboring gene predicted gene, 30941

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
curly tail
GeneReviews: Not available

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (2) 
  • Targeted (8)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (1) 

General gene information

Markers

Clone Names

  • MGC102260

Gene Ontology Provided by MGI

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 planar cell polarity pathway involved in neural tube closure IGI
Inferred from Genetic Interaction
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
 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
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 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

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.

mRNA and Protein(s)

  1. NM_001013756.3NP_001013778.1  grainyhead-like protein 3 homolog isoform 1

    See identical proteins and their annotated locations for NP_001013778.1

    Status: VALIDATED

    Source sequence(s)
    AL670720
    Consensus CDS
    CCDS38920.1
    UniProtKB/Swiss-Prot
    A2ADI2, Q5FWH3
    Related
    ENSMUSP00000101481.2, ENSMUST00000105855.2
    Conserved Domains (1) summary
    pfam04516
    Location:213421
    CP2; CP2 transcription factor
  2. NM_001415832.1NP_001402761.1  grainyhead-like protein 3 homolog isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL670720

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    135269199..135300943 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)