FLG2 - filaggrin 2 Gene

Homo sapiens

Also known as IFPS; PSS6

Gene ID: 388698 | Gene type: protein coding

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	Reference	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	Reference	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
1200
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04976	FLG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

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

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