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Entry version 133 (26 Feb 2020)
Sequence version 1 (29 Mar 2005)
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Protein

Filaggrin-2

Gene

FLG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Essential for normal cell-cell adhesion in the cornified cell layers (PubMed:29758285). Important for proper integrity and mechanical strength of the stratum corneum of the epidermis (PubMed:29505760).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi62 – 73PROSITE-ProRule annotationAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695 Neutrophil degranulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Filaggrin-2
Short name:
FLG-2
Alternative name(s):
Intermediate filament-associated and psoriasis-susceptibility protein
Short name:
Ifapsoriasin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FLG2
Synonyms:IFPS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:33276 FLG2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
616284 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5D862

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Peeling skin syndrome 6 (PSS6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of peeling skin syndrome, a genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. PSS6 patients manifest generalized ichthyotic dry skin, and bullous peeling lesions on the trunk and limbs at sites of minor trauma. Skin symptoms are exacerbated by warmth and humidity. PSS6 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081283211 – 2391Missing in PSS6; reduced protein abundance in patient's skin. 2 PublicationsAdd BLAST2181
Natural variantiVAR_081284355 – 2391Missing in PSS6; reduced protein abundance in patient's skin. 1 PublicationAdd BLAST2037

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
388698

MalaCards human disease database

More...
MalaCardsi
FLG2
MIMi618084 phenotype

Open Targets

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OpenTargetsi
ENSG00000143520

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
263548 Peeling skin syndrome type A

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162388694

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q5D862 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FLG2

Domain mapping of disease mutations (DMDM)

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DMDMi
74755309

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003314541 – 2391Filaggrin-2Add BLAST2391

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1276PhosphoserineBy similarity1
Modified residuei1427PhosphoserineBy similarity1
Modified residuei1428PhosphoserineBy similarity1
Modified residuei1504PhosphoserineBy similarity1
Modified residuei1505PhosphoserineBy similarity1
Modified residuei1579PhosphoserineBy similarity1
Modified residuei1656PhosphoserineBy similarity1
Modified residuei1657PhosphoserineBy similarity1
Modified residuei1800PhosphoserineBy similarity1
Modified residuei1807PhosphoserineBy similarity1
Modified residuei1883PhosphoserineBy similarity1
Modified residuei1884PhosphoserineBy similarity1
Modified residuei1959PhosphoserineBy similarity1
Modified residuei2034PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Deiminated by PADI1, PADI2 or PADI3 in vitro. The deiminated form is degraded by calpain-1/CAPN1 more quickly and into shorter peptides than the intact protein.1 Publication
May be processed by calpain-1/CAPN1 in the uppermost epidermal layers.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5D862

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q5D862

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q5D862

PeptideAtlas

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PeptideAtlasi
Q5D862

PRoteomics IDEntifications database

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PRIDEi
Q5D862

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
62742

2D gel databases

University College Dublin 2-DE Proteome Database

More...
UCD-2DPAGEi
Q5D862

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5D862

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5D862

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in skin, thymus, stomach and placenta, but not detected in heart, brain, liver, lung, bone marrow, small intestine, spleen, prostate, colon, adrenal gland, kidney, pancreas, mammary gland, bladder, thyroid, salivary gland and trachea. Weakly expressed in esophagus, tonsils and testis (at protein level). In the skin, strongly expressed in the upper stratum granulosum and lower stratum corneum, but not detected in the upper stratum corneum (at protein level) (PubMed:19384417) (PubMed:21531719). In scalp hair follicles, mainly restricted within the granular and cornified cells surrounding the infundibular outer root sheath, with weak expression in central and proximal outer root sheath (at protein level). Tends to be down-regulated in sporiatic lesions compared to non-lesional skin inthe same patients (PubMed:19384417).2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

In cultured foreskin fibroblasts, up-regulated in response to Ca2+ stimulation.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000143520 Expressed in zone of skin and 69 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5D862 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028699

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
132815, 38 interactors

Protein interaction database and analysis system

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IntActi
Q5D862, 20 interactors

Molecular INTeraction database

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MINTi
Q5D862

STRING: functional protein association networks

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STRINGi
9606.ENSP00000373370

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5D862 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q5D862

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini8 – 43EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini49 – 84EF-hand 2PROSITE-ProRule annotationAdd BLAST36
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati245 – 289Filaggrin 1Add BLAST45
Repeati421 – 466Filaggrin 2Add BLAST46
Repeati1019 – 1051Filaggrin 3Add BLAST33
Repeati1097 – 1141Filaggrin 4Add BLAST45
Repeati1455 – 1510Filaggrin 5Add BLAST56
Repeati1607 – 1662Filaggrin 6Add BLAST56
Repeati1757 – 1812Filaggrin 7Add BLAST56
Repeati1928 – 1964Filaggrin 8Add BLAST37
Repeati1984 – 2039Filaggrin 9Add BLAST56
Repeati2134 – 2189Filaggrin 10Add BLAST56

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 81S-100-likeBy similarityAdd BLAST81

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi132 – 1289Ser-richAdd BLAST1158

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the S100-fused protein family.Curated
In the N-terminal section; belongs to the S-100 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IX7U Eukaryota
ENOG410ZH9F LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154467

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_234089_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5D862

KEGG Orthology (KO)

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KOi
K10384

Identification of Orthologs from Complete Genome Data

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OMAi
TRHGHSG

Database of Orthologous Groups

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OrthoDBi
482595at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5D862

TreeFam database of animal gene trees

More...
TreeFami
TF338665

Family and domain databases

Conserved Domains Database

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CDDi
cd00213 S-100, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR003303 Filaggrin
IPR034325 S-100_dom
IPR001751 S100/CaBP-9k_CS
IPR013787 S100_Ca-bd_sub

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03516 Filaggrin, 12 hits
PF01023 S_100, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00487 FILAGGRIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01394 S_100, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 2 hits
PS00303 S100_CABP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q5D862-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTDLLRSVVT VIDVFYKYTK QDGECGTLSK GELKELLEKE LHPVLKNPDD
60 70 80 90 100
PDTVDVIMHM LDRDHDRRLD FTEFLLMIFK LTMACNKVLS KEYCKASGSK
110 120 130 140 150
KHRRGHRHQE EESETEEDEE DTPGHKSGYR HSSWSEGEEH GYSSGHSRGT
160 170 180 190 200
VKCRHGSNSR RLGRQGNLSS SGNQEGSQKR YHRSSCGHSW SGGKDRHGSS
210 220 230 240 250
SVELRERINK SHISPSRESG EEYESGSGSN SWERKGHGGL SCGLETSGHE
260 270 280 290 300
SNSTQSRIRE QKLGSSCSGS GDSGRRSHAC GYSNSSGCGR PQNASSSCQS
310 320 330 340 350
HRFGGQGNQF SYIQSGCQSG IKGGQGHGCV SGGQPSGCGQ PESNPCSQSY
360 370 380 390 400
SQRGYGAREN GQPQNCGGQW RTGSSQSSCC GQYGSGGSQS CSNGQHEYGS
410 420 430 440 450
CGRFSNSSSS NEFSKCDQYG SGSSQSTSFE QHGTGLSQSS GFEQHVCGSG
460 470 480 490 500
QTCGQHESTS SQSLGYDQHG SSSGKTSGFG QHGSGSGQSS GFGQCGSGSG
510 520 530 540 550
QSSGFGQHGS VSGQSSGFGQ HGSVSGQSSG FGQHESRSRQ SSYGQHGSGS
560 570 580 590 600
SQSSGYGQYG SRETSGFGQH GLGSGQSTGF GQYGSGSGQS SGFGQHGSGS
610 620 630 640 650
GQSSGFGQHE SRSGQSSYGQ HSSGSSQSSG YGQHGSRQTS GFGQHGSGSS
660 670 680 690 700
QSTGFGQYGS GSGQSSGFGQ HVSGSGQSSG FGQHESRSGH SSYGQHGFGS
710 720 730 740 750
SQSSGYGQHG SSSGQTSGFG QHELSSGQSS SFGQHGSGSG QSSGFGQHGS
760 770 780 790 800
GSGQSSGFGQ HESRSGQSSY GQHSSGSSQS SGYGQHGSRQ TSGFGQHGSG
810 820 830 840 850
SSQSTGFGQY GSGSGQSAGF GQHGSGSGQS SGFGQHESRS HQSSYGQHGS
860 870 880 890 900
GSSQSSGYGQ HGSSSGQTSG FGQHRSSSGQ YSGFGQHGSG SGQSSGFGQH
910 920 930 940 950
GTGSGQYSGF GQHESRSHQS SYGQHGSGSS QSSGYGQHGS SSGQTFGFGQ
960 970 980 990 1000
HRSGSGQSSG FGQHGSGSGQ SSGFGQHESG SGKSSGFGQH ESRSSQSNYG
1010 1020 1030 1040 1050
QHGSGSSQSS GYGQHGSSSG QTTGFGQHRS SSGQYSGFGQ HGSGSDQSSG
1060 1070 1080 1090 1100
FGQHGTGSGQ SSGFGQYESR SRQSSYGQHG SGSSQSSGYG QHGSNSGQTS
1110 1120 1130 1140 1150
GFGQHRPGSG QSSGFGQYGS GSGQSSGFGQ HGSGTGKSSG FAQHEYRSGQ
1160 1170 1180 1190 1200
SSYGQHGTGS SQSSGCGQHE SGSGPTTSFG QHVSGSDNFS SSGQHISDSG
1210 1220 1230 1240 1250
QSTGFGQYGS GSGQSTGLGQ GESQQVESGS TVHGRQETTH GQTINTTRHS
1260 1270 1280 1290 1300
QSGQGQSTQT GSRVTRRRRS SQSENSDSEV HSKVSHRHSE HIHTQAGSHY
1310 1320 1330 1340 1350
PKSGSTVRRR QGTTHGQRGD TTRHGHSGHG QSTQTGSRTS GRQRFSHSDA
1360 1370 1380 1390 1400
TDSEVHSGVS HRPHSQEQTH SQAGSQHGES ESTVHERHET TYGQTGEATG
1410 1420 1430 1440 1450
HGHSGHGQST QRGSRTTGRR GSGHSESSDS EVHSGGSHRP QSQEQTHGQA
1460 1470 1480 1490 1500
GSQHGESGST VHGRHGTTHG QTGDTTRHAH YHHGKSTQRG SSTTGRRGSG
1510 1520 1530 1540 1550
HSESSDSEVH SGGSHTHSGH THGQSGSQHG ESESIIHDRH RITHGQTGDT
1560 1570 1580 1590 1600
TRHSYSGHEQ TTQTGSRTTG RQRTSHSEST DSEVHSGGSH RPHSREHTYG
1610 1620 1630 1640 1650
QAGSQHEEPE FTVHERHGTT HGQIGDTTGH SHSGHGQSTQ RGSRTTGRQR
1660 1670 1680 1690 1700
SSHSESSDSE VHSGVSHTHT GHTHGQAGSQ HGQSESIVPE RHGTTHGQTG
1710 1720 1730 1740 1750
DTTRHAHYHH GLTTQTGSRT TGRRGSGHSE YSDSEGYSGV SHTHSGHTHG
1760 1770 1780 1790 1800
QARSQHGESE SIVHERHGTI HGQTGDTTRH AHSGHGQSTQ TGSRTTGRRS
1810 1820 1830 1840 1850
SGHSEYSDSE GHSGFSQRPH SRGHTHGQAG SQHGESESIV DERHGTTHGQ
1860 1870 1880 1890 1900
TGDTSGHSQS GHGQSTQSGS STTGRRRSGH SESSDSEVHS GGSHTHSGHT
1910 1920 1930 1940 1950
HSQARSQHGE SESTVHKRHQ TTHGQTGDTT EHGHPSHGQT IQTGSRTTGR
1960 1970 1980 1990 2000
RGSGHSEYSD SEGPSGVSHT HSGHTHGQAG SHYPESGSSV HERHGTTHGQ
2010 2020 2030 2040 2050
TADTTRHGHS GHGQSTQRGS RTTGRRASGH SEYSDSEGHS GVSHTHSGHA
2060 2070 2080 2090 2100
HGQAGSQHGE SGSSVHERHG TTHGQTGDTT RHAHSGHGQS TQRGSRTAGR
2110 2120 2130 2140 2150
RGSGHSESSD SEVHSGVSHT HSGHTYGQAR SQHGESGSAI HGRQGTIHGQ
2160 2170 2180 2190 2200
TGDTTRHGQS GHGQSTQTGS RTTGRQRSSH SESSDSEVHS EASPTHSGHT
2210 2220 2230 2240 2250
HSQAGSRHGQ SGSSGHGRQG TTHGQTGDTT RHAHYGYGQS TQRGSRTTGR
2260 2270 2280 2290 2300
RGSGHSESSD SEVHSWGSHT HSGHIQGQAG SQQRQPGSTV HGRLETTHGQ
2310 2320 2330 2340 2350
TGDTTRHGHS GYGQSTQTGS RSSRASHFQS HSSERQRHGS SQVWKHGSYG
2360 2370 2380 2390
PAEYDYGHTG YGPSGGSRKS ISNSHLSWST DSTANKQLSR H
Length:2,391
Mass (Da):248,073
Last modified:March 29, 2005 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8BC74DE89E0DDC05
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04286841L → F. Corresponds to variant dbSNP:rs3818831Ensembl.1
Natural variantiVAR_042869107R → Q. Corresponds to variant dbSNP:rs2282304Ensembl.1
Natural variantiVAR_042870137G → E. Corresponds to variant dbSNP:rs6587667Ensembl.1
Natural variantiVAR_081283211 – 2391Missing in PSS6; reduced protein abundance in patient's skin. 2 PublicationsAdd BLAST2181
Natural variantiVAR_042871276R → Q. Corresponds to variant dbSNP:rs2282303Ensembl.1
Natural variantiVAR_042872298C → S. Corresponds to variant dbSNP:rs2282302Ensembl.1
Natural variantiVAR_081284355 – 2391Missing in PSS6; reduced protein abundance in patient's skin. 1 PublicationAdd BLAST2037
Natural variantiVAR_042873723E → K. Corresponds to variant dbSNP:rs16842865Ensembl.1
Natural variantiVAR_042874881Y → S. Corresponds to variant dbSNP:rs79239476Ensembl.1
Natural variantiVAR_059173958S → Y. Corresponds to variant dbSNP:rs12411129Ensembl.1
Natural variantiVAR_0428751249H → R. Corresponds to variant dbSNP:rs16833974Ensembl.1
Natural variantiVAR_0428761992E → D. Corresponds to variant dbSNP:rs1858484Ensembl.1
Natural variantiVAR_0428772239Q → H. Corresponds to variant dbSNP:rs12736606Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY827490 mRNA Translation: AAX12417.1
DQ118293 Genomic DNA Translation: AAZ99029.1
AL356504 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS30861.1

NCBI Reference Sequences

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RefSeqi
NP_001014364.1, NM_001014342.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000388718; ENSP00000373370; ENSG00000143520

Database of genes from NCBI RefSeq genomes

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GeneIDi
388698

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:388698

UCSC genome browser

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UCSCi
uc001ezw.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY827490 mRNA Translation: AAX12417.1
DQ118293 Genomic DNA Translation: AAZ99029.1
AL356504 Genomic DNA No translation available.
CCDSiCCDS30861.1
RefSeqiNP_001014364.1, NM_001014342.2

3D structure databases

SMRiQ5D862
ModBaseiSearch...

Protein-protein interaction databases

BioGridi132815, 38 interactors
IntActiQ5D862, 20 interactors
MINTiQ5D862
STRINGi9606.ENSP00000373370

PTM databases

iPTMnetiQ5D862
PhosphoSitePlusiQ5D862

Polymorphism and mutation databases

BioMutaiFLG2
DMDMi74755309

2D gel databases

UCD-2DPAGEiQ5D862

Proteomic databases

jPOSTiQ5D862
MassIVEiQ5D862
PaxDbiQ5D862
PeptideAtlasiQ5D862
PRIDEiQ5D862
ProteomicsDBi62742

Genome annotation databases

EnsembliENST00000388718; ENSP00000373370; ENSG00000143520
GeneIDi388698
KEGGihsa:388698
UCSCiuc001ezw.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
388698
DisGeNETi388698

GeneCards: human genes, protein and diseases

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GeneCardsi
FLG2
HGNCiHGNC:33276 FLG2
HPAiHPA028699
MalaCardsiFLG2
MIMi616284 gene
618084 phenotype
neXtProtiNX_Q5D862
OpenTargetsiENSG00000143520
Orphaneti263548 Peeling skin syndrome type A
PharmGKBiPA162388694

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IX7U Eukaryota
ENOG410ZH9F LUCA
GeneTreeiENSGT00940000154467
HOGENOMiCLU_234089_0_0_1
InParanoidiQ5D862
KOiK10384
OMAiTRHGHSG
OrthoDBi482595at2759
PhylomeDBiQ5D862
TreeFamiTF338665

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
388698
PharosiQ5D862 Tbio

Protein Ontology

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PROi
PR:Q5D862
RNActiQ5D862 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143520 Expressed in zone of skin and 69 other tissues
GenevisibleiQ5D862 HS

Family and domain databases

CDDicd00213 S-100, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR003303 Filaggrin
IPR034325 S-100_dom
IPR001751 S100/CaBP-9k_CS
IPR013787 S100_Ca-bd_sub
PfamiView protein in Pfam
PF03516 Filaggrin, 12 hits
PF01023 S_100, 1 hit
PRINTSiPR00487 FILAGGRIN
SMARTiView protein in SMART
SM01394 S_100, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 2 hits
PS00303 S100_CABP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFILA2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5D862
Secondary accession number(s): Q9H4U1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: March 29, 2005
Last modified: February 26, 2020
This is version 133 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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