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FLG2 filaggrin family member 2 [ Homo sapiens (human) ]

Gene ID: 388698, updated on 5-Sep-2021

Summary

Official Symbol
FLG2provided by HGNC
Official Full Name
filaggrin family member 2provided by HGNC
Primary source
HGNC:HGNC:33276
See related
Ensembl:ENSG00000143520 MIM:616284
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
IFPS; PSS6
Summary
The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]
Expression
Restricted expression toward skin (RPKM 248.2) See more
Orthologs
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Genomic context

See FLG2 in Genome Data Viewer
Location:
1q21.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152348735..152360028, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152321211..152332482, complement)

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

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
Genetic variants associated with disordered eating.
GeneReviews: Not available
Peeling skin syndrome 6
MedGen: C4748093 OMIM: 618084 GeneReviews: Not available
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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 structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
enables transition metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epidermis morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
Component Evidence Code Pubs
is_active_in cornified envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in keratohyalin granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus HDA PubMed 
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
filaggrin-2
Names
ifapsoriasin
intermediate filament-associated and psoriasis susceptibility protein

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.

mRNA and Protein(s)

  1. NM_001014342.3NP_001014364.1  filaggrin-2

    See identical proteins and their annotated locations for NP_001014364.1

    Status: REVIEWED

    Source sequence(s)
    AL356504, AY827490, BC108269, BX095286
    Consensus CDS
    CCDS30861.1
    UniProtKB/Swiss-Prot
    Q5D862
    Related
    ENSP00000373370.4, ENST00000388718.5
    Conserved Domains (1) summary
    cd00213
    Location:287
    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 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
    152348735..152360028 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509531.2XP_011507833.1  filaggrin-2 isoform X1

    Conserved Domains (1) summary
    cd00213
    Location:287
    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 ...
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