FLG filaggrin [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLGprovided by HGNC
Official Full Name: filaggrinprovided by HGNC
Primary source: HGNC:HGNC:3748
See related: Ensembl:ENSG00000143631 MIM:135940; AllianceGenome:HGNC:3748
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FLG1; ATOD2; FLG-1
Summary: The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
Expression: Restricted expression toward skin (RPKM 454.2) See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (152302165..152325239, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (151437741..151461789, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152274641..152297715, complement)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis.
Title: Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis.
Influence of household pet ownership and filaggrin loss-of-function mutations on eczema prevalence in children: A birth cohort study.
Title: Influence of household pet ownership and filaggrin loss-of-function mutations on eczema prevalence in children: A birth cohort study.
Immunolabeling for filaggrin and acidic keratins in the granular layer of mammalian epidermis indicates that an acidic-basic interaction is involved in cornification.
Title: Immunolabeling for filaggrin and acidic keratins in the granular layer of mammalian epidermis indicates that an acidic-basic interaction is involved in cornification.
Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians.
Title: Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians.
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.
Title: Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.
Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study.
Title: Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study.
Human filaggrin monomer does not seem to be a proteasome target.
Title: Human filaggrin monomer does not seem to be a proteasome target.
Temporal relationships between Staphylococcus aureus colonization, filaggrin expression, and pediatric atopic dermatitis.
Title: Temporal relationships between Staphylococcus aureus colonization, filaggrin expression, and pediatric atopic dermatitis.
Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.
Title: Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.
Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.
Title: Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.

Submit: New GeneRIF Correction See all GeneRIFs (371)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dermatitis, atopic, 2 MedGen: C1853965 OMIM: 605803 GeneReviews: Not available	not available
Ichthyosis vulgaris MedGen: C0079584 OMIM: 146700 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-02-26) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S252 (e-PCR), detects polymorphism
- UniSTS:14363

D1S3436 (e-PCR)
- UniSTS:3721

D1S1653 (e-PCR), detects polymorphism
- UniSTS:51147

SHGC-144331 (e-PCR)
- UniSTS:181979

NoName (e-PCR)
- UniSTS:485881

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of skin epidermis	IDA Inferred from Direct Assay more info	PubMed
enables transition metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in establishment of skin barrier	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of skin barrier	IEP Inferred from Expression Pattern more info	PubMed
involved_in keratinocyte differentiation	TAS Traceable Author Statement more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in cornified envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in keratohyalin granule	IBA Inferred from Biological aspect of Ancestor more info
located_in keratohyalin granule	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: filaggrin

Names: epidermal filaggrin

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.

Genomic

NG_016190.1 RefSeqGene

Range

5001..28029

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1028

mRNA and Protein(s)

NM_002016.2 → NP_002007.1 filaggrin

See identical proteins and their annotated locations for NP_002007.1

Status: REVIEWED

Source sequence(s)

AL356504

Consensus CDS

CCDS30860.1

UniProtKB/Swiss-Prot

P20930, Q01720, Q5T583, Q9UC71

UniProtKB/TrEMBL

I0B0K8

Related

ENSP00000357789.1, ENST00000368799.2

Conserved Domains (2) summary

cd00213
Location:2 → 88

S-100; 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 ...

pfam03516
Location:2333 → 2374

Filaggrin; Filaggrin