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Protein

Filaggrin-2

Gene

FLG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi62 – 73PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

GO - Biological processi

  • establishment of skin barrier Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.

Names & Taxonomyi

Protein namesi
Recommended name:
Filaggrin-2
Short name:
FLG-2
Alternative name(s):
Intermediate filament-associated and psoriasis-susceptibility protein
Short name:
Ifapsoriasin
Gene namesi
Name:FLG2
Synonyms:IFPS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:33276. FLG2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi388698.
OpenTargetsiENSG00000143520.
PharmGKBiPA162388694.

Polymorphism and mutation databases

BioMutaiFLG2.
DMDMi74755309.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003314541 – 2391Filaggrin-2Add BLAST2391

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

PaxDbiQ5D862.
PeptideAtlasiQ5D862.
PRIDEiQ5D862.

2D gel databases

UCD-2DPAGEQ5D862.

PTM databases

iPTMnetiQ5D862.
PhosphoSitePlusiQ5D862.

Expressioni

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

Inductioni

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

Gene expression databases

BgeeiENSG00000143520.
CleanExiHS_FLG2.
GenevisibleiQ5D862. HS.

Organism-specific databases

HPAiHPA028699.

Interactioni

Protein-protein interaction databases

BioGridi132815. 13 interactors.
IntActiQ5D862. 12 interactors.
MINTiMINT-6488800.
STRINGi9606.ENSP00000373370.

Structurei

3D structure databases

ProteinModelPortaliQ5D862.
SMRiQ5D862.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 43EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini49 – 84EF-hand 2PROSITE-ProRule annotationAdd BLAST36
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
Regioni1 – 81S-100-likeBy similarityAdd BLAST81

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi132 – 1289Ser-richAdd BLAST1158

Sequence similaritiesi

Belongs to the S100-fused protein family.Curated
In the N-terminal section; belongs to the S-100 family.Curated
Contains 2 EF-hand domains.PROSITE-ProRule annotation
Contains 10 filaggrin repeats.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IX7U. Eukaryota.
ENOG410ZH9F. LUCA.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000112590.
InParanoidiQ5D862.
KOiK10384.
OMAiGTTHAQS.
OrthoDBiEOG091G01X9.
PhylomeDBiQ5D862.
TreeFamiTF338665.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR003303. Filaggrin.
IPR001751. S100/CaBP-9k_CS.
IPR013787. S100_Ca-bd_sub.
[Graphical view]
PfamiPF01023. S_100. 1 hit.
[Graphical view]
PRINTSiPR00487. FILAGGRIN.
SMARTiSM01394. S_100. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00303. S100_CABP. 1 hit.
[Graphical view]

Sequencei

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
Checksum:i8BC74DE89E0DDC05
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04286841L → F.Corresponds to variant rs3818831dbSNPEnsembl.1
Natural variantiVAR_042869107R → Q.Corresponds to variant rs2282304dbSNPEnsembl.1
Natural variantiVAR_042870137G → E.Corresponds to variant rs6587667dbSNPEnsembl.1
Natural variantiVAR_042871276R → Q.Corresponds to variant rs2282303dbSNPEnsembl.1
Natural variantiVAR_042872298C → S.Corresponds to variant rs2282302dbSNPEnsembl.1
Natural variantiVAR_042873723E → K.Corresponds to variant rs16842865dbSNPEnsembl.1
Natural variantiVAR_042874881Y → S.Corresponds to variant rs79239476dbSNPEnsembl.1
Natural variantiVAR_059173958S → Y.Corresponds to variant rs12411129dbSNPEnsembl.1
Natural variantiVAR_0428751249H → R.Corresponds to variant rs16833974dbSNPEnsembl.1
Natural variantiVAR_0428761992E → D.Corresponds to variant rs1858484dbSNPEnsembl.1
Natural variantiVAR_0428772239Q → H.Corresponds to variant rs12736606dbSNPEnsembl.1

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. Translation: CAC13173.2.
CCDSiCCDS30861.1.
RefSeqiNP_001014364.1. NM_001014342.2.
UniGeneiHs.156124.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAC13173.2.
CCDSiCCDS30861.1.
RefSeqiNP_001014364.1. NM_001014342.2.
UniGeneiHs.156124.

3D structure databases

ProteinModelPortaliQ5D862.
SMRiQ5D862.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132815. 13 interactors.
IntActiQ5D862. 12 interactors.
MINTiMINT-6488800.
STRINGi9606.ENSP00000373370.

PTM databases

iPTMnetiQ5D862.
PhosphoSitePlusiQ5D862.

Polymorphism and mutation databases

BioMutaiFLG2.
DMDMi74755309.

2D gel databases

UCD-2DPAGEQ5D862.

Proteomic databases

PaxDbiQ5D862.
PeptideAtlasiQ5D862.
PRIDEiQ5D862.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi388698.
DisGeNETi388698.
GeneCardsiFLG2.
HGNCiHGNC:33276. FLG2.
HPAiHPA028699.
MIMi616284. gene.
neXtProtiNX_Q5D862.
OpenTargetsiENSG00000143520.
PharmGKBiPA162388694.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX7U. Eukaryota.
ENOG410ZH9F. LUCA.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000112590.
InParanoidiQ5D862.
KOiK10384.
OMAiGTTHAQS.
OrthoDBiEOG091G01X9.
PhylomeDBiQ5D862.
TreeFamiTF338665.

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.

Miscellaneous databases

GenomeRNAii388698.
PROiQ5D862.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143520.
CleanExiHS_FLG2.
GenevisibleiQ5D862. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR003303. Filaggrin.
IPR001751. S100/CaBP-9k_CS.
IPR013787. S100_Ca-bd_sub.
[Graphical view]
PfamiPF01023. S_100. 1 hit.
[Graphical view]
PRINTSiPR00487. FILAGGRIN.
SMARTiSM01394. S_100. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00303. S100_CABP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFILA2_HUMAN
AccessioniPrimary (citable) accession number: Q5D862
Secondary accession number(s): Q9H4U1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: March 29, 2005
Last modified: November 30, 2016
This is version 110 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.