FLG2 - filaggrin 2 Gene

Also Known as IFPS; PSS6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 388698

About FLG2

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:152,348,735-152,360,006 (from NCBI)

This gene has 1 transcript (splice variant), 68 orthologues, 3 paralogues and is associated with 2 phenotypes. Restricted expression toward skin (RPKM 248.2).

Summary

The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]

FLG2 Products (1)

mRNA	Protein	Name
NM_001014342.3	NP_001014364.1	filaggrin-2

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Références	Source
involved in cell adhesion	IMP IMP: Inferred from mutant phenotype	29758285	GOA
involved in epidermis morphogenesis	IMP IMP: Inferred from mutant phenotype	29505760	GOA
involved in establishment of skin barrier	IEP IEP: Inferred from expression pattern	23403047	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19384417	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FLG2 Protein Structure

S_100

0
400
800
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1600
2000
2391 a.a.

Protein Preferred Names	Protein Names
filaggrin-2	filaggrin family member 2

Related Diseases

Diseases	Alias
Peeling Skin Syndrome 6	PSS6
Peeling Skin Syndrome Type A	Generalized Deciduous Skin Type A Generalized Peeling Skin Syndrome Type A Non-Inflammatory Generalized Peeling Skin Syndrome Type A. Non-Inflammatory Peeling Skin Syndrome Type A Pss Type A
Peeling Skin Syndrome	Deciduous Skin Familial Continuous Skin Peeling Syndrome Idiopathic Deciduous Skin Keratosis Exfoliativa Congenita Pss Peeling Skin Disease Skin Peeling Syndrome Familial Continuous Skin Peeling Keratolysis Exfoliativa Congenita Exfoliation Syndrome Keratolysis Exfoliativa
Psoriasis
Ichthyosis Vulgaris	Ichthyosis Simplex Dominant Congenital Ichthyosiform Erythroderma Common Ichthyosis Fish Scale Disease VI Ichthyoses Congenital Ichthyosis
Spongiotic Dermatitis
Eczema Herpeticum	Herpes Simplex Dermatitis Herpes Simplex Eyelid Dermatitis Kaposi Varicelliform Eruption Herpes Simplex Dermatitis Of Eyelid Herpes Simplex Virus Dermatitis Herpes Simplex Virus Eyelid Dermatitis
Pinguecula
Conjunctival Degeneration
Large Congenital Melanocytic Nevus	Giant Pigmented Hairy Nevus Giant Congenital Melanocytic Nevus Gmn Congenital Pigmented Nevus Lcmn Gphn Giant Congenital Nevus Bathing Trunk Nevus Congenital Giant Pigmented Nevus Congenital Hairy Nevus Giant Hairy Nevus Giant Pigmented Nevus Congenital Giant Pigmented Nevus Of Skin Congenital Melanocytic Nevus Syndrome Giant Congenital Melanocytic Nevi Giant Congenital Pigmented Nevus Melanocytic Nevus Syndrome, Congenital
Dermatitis, Atopic	Atopic Dermatitis Atopic Eczema Dermatitis, Atopic, Susceptibility To, 1 Atod Eczema, Atopic Dermatitis, Atopic 1 Allergic Dermatitis Atopic Neurodermatitis Besnier'S Prurigo Dermatitis, Atopic, 1 Dermatitis Atopic Eczema Besnier Prurigo

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS04919	Fgfr3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04976	FLG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FLG2	MGD	MGI:3645678
Rattus norvegicus	FLG2	RGD	RGD:1566121