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FLG filaggrin [ Homo sapiens (human) ]

Gene ID: 2312, updated on 11-Sep-2014
Official Symbol
FLGprovided by HGNC
Official Full Name
filaggrinprovided by HGNC
Primary source
HGNC:HGNC:3748
See related
Ensembl:ENSG00000143631; HPRD:15920; MIM:135940; Vega:OTTHUMG00000012202
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]
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (152302175..152325203, 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 repetin 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
establishment of skin barrier IEP
Inferred from Expression Pattern
more info
 
keratinocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
multicellular organismal development NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic membrane-bounded vesicle IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
filaggrin
Names
filaggrin
epidermal filaggrin

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 

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

mRNA and Protein(s)

  1. NM_002016.1NP_002007.1  filaggrin

    See proteins identical to NP_002007.1

    Status: REVIEWED

    Source sequence(s)
    AL356504
    Consensus CDS
    CCDS30860.1
    UniProtKB/Swiss-Prot
    P20930
    Related
    ENSP00000357789, OTTHUMP00000014057, ENST00000368799, OTTHUMT00000033742
    Conserved Domains (2) summary
    pfam03516
    Location:904955
    Filaggrin; Filaggrin
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    152302175..152325203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    123649333..123671391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    153670002..153693030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)