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FLG filaggrin [ Homo sapiens (human) ]

Gene ID: 2312, updated on 26-Sep-2021

Summary

Official Symbol
FLGprovided by HGNC
Official Full Name
filaggrinprovided by HGNC
Primary source
HGNC:HGNC:3748
See related
Ensembl:ENSG00000143631 MIM:135940
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
ATOD2
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
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Genomic context

See FLG in Genome Data Viewer
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152302165..152325239, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152274641..152297715, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268240 Neighboring gene hornerin Neighboring gene FLG antisense RNA 1 Neighboring gene filaggrin family member 2 Neighboring gene high mobility group nucleosomal binding domain 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
GeneReviews: Not available
Dermatitis, atopic, 2
MedGen: C1853965 OMIM: 605803 GeneReviews: Not available
Compare labs
Genetic variants associated with disordered eating.
GeneReviews: Not available
Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.
GeneReviews: Not available
Ichthyosis vulgaris
MedGen: C0079584 OMIM: 146700 GeneReviews: Not available
Compare labs

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 structural molecule activity NAS
Non-traceable Author Statement
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
PubMed 
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 multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

  1. NG_016190.1 RefSeqGene

    Range
    5001..28029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1028

mRNA and Protein(s)

  1. NM_002016.2NP_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
    Related
    ENSP00000357789.1, ENST00000368799.2
    Conserved Domains (2) summary
    cd00213
    Location:288
    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:23332374
    Filaggrin; Filaggrin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    152302165..152325239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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