Grhl2 grainyhead like transcription factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Grhl2provided by MGI
Official Full Name: grainyhead like transcription factor 2provided by MGI
Primary source: MGI:MGI:2182543
See related: Ensembl:ENSMUSG00000022286 AllianceGenome:MGI:2182543
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: BOM; clft3; Tcfcp2l3; 0610015A08Rik
Summary: Enables DNA-binding transcription factor activity; chromatin binding activity; and intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including epithelial cell differentiation; neural tube closure; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including animal organ development; embryonic morphogenesis; and face development. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 28 and posterior polymorphous corneal dystrophy 4. Orthologous to human GRHL2 (grainyhead like transcription factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in genital fat pad adult (RPKM 7.3), bladder adult (RPKM 5.9) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 B3.1; 15 14.84 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (37233065..37363813)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (37232821..37363569)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Grainyhead-like 2 interacts with noggin to regulate tissue fusion in mouse.
Title: Grainyhead-like 2 interacts with noggin to regulate tissue fusion in mouse.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Title: A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
GRHL2 Regulation of Growth/Motility Balance in Luminal versus Basal Breast Cancer.
Title: GRHL2 Regulation of Growth/Motility Balance in Luminal versus Basal Breast Cancer.
Delineating the roles of Grhl2 in craniofacial development through tissue-specific conditional deletion and epistasis approaches in mouse.
Title: Delineating the roles of Grhl2 in craniofacial development through tissue-specific conditional deletion and epistasis approaches in mouse.
Expression of Grainyhead-like 2 in the Process of Ductal Development of Mouse Mammary Gland.
Title: Expression of Grainyhead-like 2 in the Process of Ductal Development of Mouse Mammary Gland.
GRHL2 induces liver fibrosis and intestinal mucosal barrier dysfunction in non-alcoholic fatty liver disease via microRNA-200 and the MAPK pathway.
Title: GRHL2 induces liver fibrosis and intestinal mucosal barrier dysfunction in non-alcoholic fatty liver disease via microRNA-200 and the MAPK pathway.
Inactivation of Zeb1 in GRHL2-deficient mouse embryos rescues mid-gestation viability and secondary palate closure.
Title: Inactivation of Zeb1 in GRHL2-deficient mouse embryos rescues mid-gestation viability and secondary palate closure.
The Lineage Determining Factor GRHL2 Collaborates with FOXA1 to Establish a Targetable Pathway in Endocrine Therapy-Resistant Breast Cancer.
Title: The Lineage Determining Factor GRHL2 Collaborates with FOXA1 to Establish a Targetable Pathway in Endocrine Therapy-Resistant Breast Cancer.
Grhl2 knockout impaired the expression of the junction proteins at the junctional epithelium and increased the alveolar bone loss in the ligature-induced periodontitis model
Title: Porphyromonas gingivalis Impairs Oral Epithelial Barrier through Targeting GRHL2.
The GRHL2 assumes control over a subset of the naive network via enhancer switching to maintain expression of epithelial genes upon exit from naive pluripotency.
Title: GRHL2-Dependent Enhancer Switching Maintains a Pluripotent Stem Cell Transcriptional Subnetwork after Exit from Naive Pluripotency.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3)
Gene trapped (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

41.MMHAP64FRF11.seq (e-PCR)
- UniSTS:124420

Grhl2 (e-PCR), detects polymorphism
- UniSTS:531511

D15Mit49 (e-PCR), detects polymorphism
- UniSTS:127667

AU049954 (e-PCR)
- UniSTS:146396

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISA Inferred from Sequence Alignment more info	PubMed
enables DNA-binding transcription activator activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISA Inferred from Sequence Alignment more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables intronic transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell junction assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epithelial cell morphogenesis involved in placental branching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelium migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within face development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in lung epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung lobe morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomerase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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 DNA-templated transcription	ISA Inferred from Sequence Alignment more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within respiratory tube development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in membrane	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 2 homolog

Names: brother of mammalian grainyhead; grainyhead like 2; grainyhead-like 2; grainyheadlike; transcription factor CP2-like 3

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)

NM_026496.4 → NP_080772.2 grainyhead-like protein 2 homolog

See identical proteins and their annotated locations for NP_080772.2

Status: VALIDATED

Source sequence(s)

BC055035, BY018142, BY703140, CJ322576

Consensus CDS

CCDS27434.1

UniProtKB/Swiss-Prot

Q80UZ5, Q8K5C0

Related

ENSMUSP00000022895.9, ENSMUST00000022895.15

Conserved Domains (1) summary

pfam04516
Location:229 → 438

CP2; CP2 transcription factor

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

NC_000081.7 Reference GRCm39 C57BL/6J

Range

37233065..37363813

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017316622.1 → XP_017172111.1 grainyhead-like protein 2 homolog isoform X3

Conserved Domains (1) summary

pfam04516
Location:303 → 493

CP2; CP2 transcription factor
XM_006520065.4 → XP_006520128.1 grainyhead-like protein 2 homolog isoform X5

See identical proteins and their annotated locations for XP_006520128.1

UniProtKB/TrEMBL

Q9DCN4

Related

ENSMUSP00000125410.2, ENSMUST00000161405.8

Conserved Domains (1) summary

pfam04516
Location:229 → 419

CP2; CP2 transcription factor
XM_006520063.5 → XP_006520126.3 grainyhead-like protein 2 homolog isoform X1

Conserved Domains (1) summary

pfam04516
Location:213 → 422

CP2; CP2 transcription factor
XM_017316621.3 → XP_017172110.2 grainyhead-like protein 2 homolog isoform X2

Conserved Domains (1) summary

pfam04516
Location:213 → 422

CP2; CP2 transcription factor
XM_017316623.2 → XP_017172112.2 grainyhead-like protein 2 homolog isoform X4

Conserved Domains (1) summary

pfam04516
Location:213 → 403

CP2; CP2 transcription factor