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FLASH GENE

Symbol

FLG

contributors: mct/npt/pgu - updated : 16-05-2018

HGNC name	filaggrin
HGNC id	3748

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IVLG ichthyosis vulgaris, simplex
Location	1q21.3      Physical location : 152.274.650 - 152.297.679
Synonym name	profilaggrin
	epidermal filaggrin
Synonym symbol(s)	ATOD2

DNA

TYPE	functioning gene
STRUCTURE	23.03 kb     3 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see EDC

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002016 3 - 12747 NP_002007 - 4061 - 1992 1429717

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system uterus         female system breast mammary gland       male system testis       Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis stratum corneum   Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

S100-fused protein family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	aggregating keratin filaments and promoting disulfite-bonding
	integral part of the epidermis that plays a key role in engineering and maintaining the barrier function
	having a key role in maintaining an effective skin barrier against the external environment
	possible genetic modifier in other genodermatoses
	FLG and FLG2 display a related structural organization, an identical pattern of expression and localization in epidermis, and proteolytic processing of a large precursor

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of the epidermal differentiation complex (EDC@)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

intermediate filament associated protein (IFAP type I)

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IVLG

Susceptibility

to atopic dermatis, for the extrinsic subtype of AD, and with concomitant respiratory allergic diseases

Variant & Polymorphism other	R510X and 2282del4 are very strong predisposing factors for atopic dermatitis
	four prevalent mutations (R501X, 2282del4, R2447X and S3247X)strongly associated to atopic dermatis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS