Flg filaggrin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Flgprovided by MGI
Official Full Name: filaggrinprovided by MGI
Primary source: MGI:MGI:95553
See related: AllianceGenome:MGI:95553
Gene type: protein coding
RefSeq status: MODEL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ft
Summary: Enables keratin filament binding activity. A structural constituent of skin epidermis. Acts upstream of or within epidermis development; establishment of skin barrier; and intermediate filament organization. Located in cornified envelope and keratohyalin granule. Is expressed in eyelid epithelium; foregut; metapodial pad epidermis; and skin. Used to study atopic dermatitis 2. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: suggests misassembly
Expression: Restricted expression toward stomach adult (RPKM 384.5) See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 40.16 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (93180853..93200996)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (93273546..93293689)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

FLG Deficiency in Mice Alters the Early-Life CD4[+] T-Cell Response to Skin Commensal Bacteria.
Title: FLG Deficiency in Mice Alters the Early-Life CD4(+) T-Cell Response to Skin Commensal Bacteria.
IL-20 subfamily cytokines impair the oesophageal epithelial barrier by diminishing filaggrin in eosinophilic oesophagitis.
Title: IL-20 subfamily cytokines impair the oesophageal epithelial barrier by diminishing filaggrin in eosinophilic oesophagitis.
Low Threshold for Cutaneous Allergen Sensitization but No Spontaneous Dermatitis or Atopy in FLG-Deficient Mice.
Title: Low Threshold for Cutaneous Allergen Sensitization but No Spontaneous Dermatitis or Atopy in FLG-Deficient Mice.
Filaggrin Expression and Processing Deficiencies Impair Corneocyte Surface Texture and Stiffness in Mice.
Title: Filaggrin Expression and Processing Deficiencies Impair Corneocyte Surface Texture and Stiffness in Mice.
findings reveal a critical metabolic signaling relay of barrier formation in which epidermal mTORC2 activity controls FLG processing and de novo epidermal lipid synthesis during cornification.
Title: Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation.
our FlgHrnr(-/-) mouse model nicely reflects the epicutaneous sensitization susceptibilities and inflammatory reactions to environmental insults in humans with impaired skin barrier functions.
Title: Transient epidermal barrier deficiency and lowered allergic threshold in filaggrin-hornerin (FlgHrnr(-/-) ) double-deficient mice.
In vivo experiment, Chaenomeles sinensis administration reduced thickening of the epidermis and infiltration of inflammatory cells into the dermis as compared to 2,4-dinitrochlorobenzene (DNCB) treatment. Moreover, the decrease of filaggrin expression due to DNCB treatment was recovered by Chaenomeles sinensis administration.
Title: Chaenomeles sinensis Koehne extract suppresses the development of atopic dermatitis-like lesions by regulating cytokine and filaggrin expression in NC/Nga mice.
3D in vivo imaging of the mCherry-K1 labeled bundled keratin filaments in mouse primary cultured keratinocytes from Flg-/- and Flg+/+ mice visualized keratin filament networks in living stratum granulosum (SG) cells and revealed the contribution of profilaggrin expression to the keratin network in SG cells of live mice.
Title: 3D in vivo imaging of the keratin filament network in the mouse stratum granulosum reveals profilaggrin-dependent regulation of keratin bundling.
FLG and DST support melanoma cell growth in vitro and in vivo. Growth effects of JUP were only evident in vivo, and may be mediated, in part, by enhancing angiogenesis. In addition, growth-promoting effects of FLG and DST in vitro suggest that these genes may also support melanoma cell proliferation through angiogenesis-independent pathways.
Title: The Barrier Molecules Junction Plakoglobin, Filaggrin, and Dystonin Play Roles in Melanoma Growth and Angiogenesis.
this study shows that MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice
Title: MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Associated conditions

Description	Tests
flaky tail GeneReviews: Not available

Variation

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Alleles

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

Endonuclease-mediated (1)
Spontaneous (1)
Targeted (2) 1 citation

General gene information

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Markers

Flg (e-PCR), detects polymorphism
- UniSTS:143115

Flg (e-PCR), detects polymorphism
- UniSTS:143116

AW107830 (e-PCR)
- UniSTS:178879

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables keratin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of skin epidermis	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intermediate filament organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
is_active_in keratohyalin granule	IDA Inferred from Direct Assay more info	PubMed
located_in keratohyalin granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: filaggrin; LOW QUALITY PROTEIN: filaggrin

Names: fillagrin; keratin intermediate filament-associated protein; profilaggrin

NCBI Reference Sequences (RefSeq)

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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_000069.7 Reference GRCm39 C57BL/6J

Range

93180853..93200996

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319842.1 → XP_017175331.1 LOW QUALITY PROTEIN: filaggrin

Conserved Domains (2) summary

PRK12678
Location:293 → 530

PRK12678; transcription termination factor Rho; Provisional

cd00213
Location:2 → 74

S-100; S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 proteins are ...