Human Gene FLG2 (ENST00000388718.5_7) from GENCODE V47lift37
  Description: filaggrin 2 (from RefSeq NM_001014342.3)
Gencode Transcript: ENST00000388718.5_7
Gencode Gene: ENSG00000143520.6_12
Transcript (Including UTRs)
   Position: hg19 chr1:152,321,211-152,332,482 Size: 11,272 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:152,323,086-152,331,360 Size: 8,275 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:152,321,211-152,332,482)mRNA (may differ from genome)Protein (2391 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FILA2_HUMAN
DESCRIPTION: RecName: Full=Filaggrin-2; Short=FLG-2; AltName: Full=Intermediate filament-associated and psoriasis-susceptibility protein; Short=Ifapsoriasin;
SIMILARITY: Belongs to the S100-fused protein family.
SIMILARITY: In the N-terminal section; belongs to the S-100 family.
SIMILARITY: Contains 2 EF-hand domains.
SIMILARITY: Contains 10 filaggrin repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FLG2
Diseases sorted by gene-association score: intussusception (9), meckel's diverticulum (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 303.87 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 536.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.5073-0.185 Picture PostScript Text
3' UTR -468.601875-0.250 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR003303 - Filaggrin
IPR001751 - S100/CaBP-9k_CS
IPR013787 - S100_Ca-bd_sub

Pfam Domains:
PF01023 - S-100/ICaBP type calcium binding domain

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on Q5D862
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005509 calcium ion binding
GO:0046872 metal ion binding
GO:0046914 transition metal ion binding

Biological Process:
GO:0043312 neutrophil degranulation
GO:0061436 establishment of skin barrier

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:1904724 tertiary granule lumen


-  Descriptions from all associated GenBank mRNAs
  BC029685 - Homo sapiens filaggrin family member 2, mRNA (cDNA clone IMAGE:4753786), with apparent retained intron.
BC108269 - Homo sapiens cDNA clone IMAGE:4755204.
BC063543 - Homo sapiens cDNA clone IMAGE:4751820, partial cds.
AY827490 - Homo sapiens ifapsoriasin (IFPS) mRNA, complete cds.
JD366734 - Sequence 347758 from Patent EP1572962.
JD155950 - Sequence 136974 from Patent EP1572962.
JD106066 - Sequence 87090 from Patent EP1572962.
JD518044 - Sequence 499068 from Patent EP1572962.
JD101871 - Sequence 82895 from Patent EP1572962.
JD185855 - Sequence 166879 from Patent EP1572962.
JD481196 - Sequence 462220 from Patent EP1572962.
JD481197 - Sequence 462221 from Patent EP1572962.
DQ595242 - Homo sapiens piRNA piR-61354, complete sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5D862 (Reactome details) participates in the following event(s):

R-HSA-6798745 Exocytosis of tertiary granule lumen proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000388718.1, ENST00000388718.2, ENST00000388718.3, ENST00000388718.4, FILA2_HUMAN, IFPS, NM_001014342, Q5D862, Q9H4U1, uc318szj.1, uc318szj.2
UCSC ID: ENST00000388718.5_7
RefSeq Accession: NM_001014342.3
Protein: Q5D862 (aka FILA2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.