Format

Send to:

Choose Destination

FLG filaggrin [ Homo sapiens (human) ]

Gene ID: 2312, updated on 5-Jul-2020

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

Genomic context

See FLG in Genome Data Viewer
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152302165..152325239, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152274651..152297679, 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
Dermatitis, atopic, 2
MedGen: C1853965 OMIM: 605803 GeneReviews: Not available
Compare labs
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

NHGRI GWAS Catalog

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

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
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of epidermis IDA
Inferred from Direct Assay
more info
PubMed 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
transition metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
establishment of skin barrier IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of skin barrier IEP
Inferred from Expression Pattern
more info
PubMed 
keratinocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
cornified envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intermediate filament NAS
Non-traceable Author Statement
more info
PubMed 
keratohyalin granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
keratohyalin granule IDA
Inferred from Direct Assay
more info
PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
filaggrin
Names
epidermal filaggrin

NCBI Reference Sequences (RefSeq)

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.

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)
Support Center