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Q5D862

- FILA2_HUMAN

UniProt

Q5D862 - FILA2_HUMAN

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Protein

Filaggrin-2

Gene

FLG2

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

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi62 – 7312PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. structural molecule activity Source: InterPro

GO - Biological processi

  1. establishment of skin barrier Source: UniProt
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:33276. FLG2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProt
  2. extracellular vesicular exosome Source: UniProt
  3. nucleus Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162388694.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 23912391Filaggrin-2PRO_0000331454Add
BLAST

Proteomic databases

MaxQBiQ5D862.
PaxDbiQ5D862.
PRIDEiQ5D862.

2D gel databases

UCD-2DPAGEQ5D862.

PTM databases

PhosphoSiteiQ5D862.

Expressioni

Gene expression databases

BgeeiQ5D862.
CleanExiHS_FLG2.
GenevestigatoriQ5D862.

Organism-specific databases

HPAiHPA028699.

Interactioni

Protein-protein interaction databases

BioGridi132815. 10 interactions.
IntActiQ5D862. 7 interactions.
MINTiMINT-6488800.
STRINGi9606.ENSP00000373370.

Structurei

3D structure databases

ProteinModelPortaliQ5D862.
SMRiQ5D862. Positions 11-97.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 4336EF-hand 1PROSITE-ProRule annotationAdd
BLAST
Domaini49 – 8436EF-hand 2PROSITE-ProRule annotationAdd
BLAST
Repeati245 – 28945Filaggrin 1Add
BLAST
Repeati421 – 46646Filaggrin 2Add
BLAST
Repeati1019 – 105133Filaggrin 3Add
BLAST
Repeati1097 – 114145Filaggrin 4Add
BLAST
Repeati1455 – 151056Filaggrin 5Add
BLAST
Repeati1607 – 166256Filaggrin 6Add
BLAST
Repeati1757 – 181256Filaggrin 7Add
BLAST
Repeati1928 – 196437Filaggrin 8Add
BLAST
Repeati1984 – 203956Filaggrin 9Add
BLAST
Repeati2134 – 218956Filaggrin 10Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 8181S-100-likeBy similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi132 – 12891158Ser-richAdd
BLAST

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

eggNOGiNOG12793.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000112590.
InParanoidiQ5D862.
KOiK10384.
OMAiGTTHAQS.
OrthoDBiEOG7BP821.
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.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411L → F.
Corresponds to variant rs3818831 [ dbSNP | Ensembl ].
VAR_042868
Natural varianti107 – 1071R → Q.
Corresponds to variant rs2282304 [ dbSNP | Ensembl ].
VAR_042869
Natural varianti137 – 1371G → E.
Corresponds to variant rs6587667 [ dbSNP | Ensembl ].
VAR_042870
Natural varianti276 – 2761R → Q.
Corresponds to variant rs2282303 [ dbSNP | Ensembl ].
VAR_042871
Natural varianti298 – 2981C → S.
Corresponds to variant rs2282302 [ dbSNP | Ensembl ].
VAR_042872
Natural varianti723 – 7231E → K.
Corresponds to variant rs16842865 [ dbSNP | Ensembl ].
VAR_042873
Natural varianti881 – 8811Y → S.
Corresponds to variant rs12411129 [ dbSNP | Ensembl ].
VAR_042874
Natural varianti958 – 9581S → Y.
Corresponds to variant rs12411129 [ dbSNP | Ensembl ].
VAR_059173
Natural varianti1249 – 12491H → R.
Corresponds to variant rs16833974 [ dbSNP | Ensembl ].
VAR_042875
Natural varianti1992 – 19921E → D.
Corresponds to variant rs1858484 [ dbSNP | Ensembl ].
VAR_042876
Natural varianti2239 – 22391Q → H.
Corresponds to variant rs12736606 [ dbSNP | Ensembl ].
VAR_042877

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.4. human.

Polymorphism databases

DMDMi74755309.

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 .
CCDSi CCDS30861.1.
RefSeqi NP_001014364.1. NM_001014342.2.
UniGenei Hs.156124.

3D structure databases

ProteinModelPortali Q5D862.
SMRi Q5D862. Positions 11-97.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 132815. 10 interactions.
IntActi Q5D862. 7 interactions.
MINTi MINT-6488800.
STRINGi 9606.ENSP00000373370.

PTM databases

PhosphoSitei Q5D862.

Polymorphism databases

DMDMi 74755309.

2D gel databases

UCD-2DPAGE Q5D862.

Proteomic databases

MaxQBi Q5D862.
PaxDbi Q5D862.
PRIDEi Q5D862.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000388718 ; ENSP00000373370 ; ENSG00000143520 .
GeneIDi 388698.
KEGGi hsa:388698.
UCSCi uc001ezw.4. human.

Organism-specific databases

CTDi 388698.
GeneCardsi GC01M152321.
HGNCi HGNC:33276. FLG2.
HPAi HPA028699.
neXtProti NX_Q5D862.
PharmGKBi PA162388694.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00530000063634.
HOGENOMi HOG000112590.
InParanoidi Q5D862.
KOi K10384.
OMAi GTTHAQS.
OrthoDBi EOG7BP821.
PhylomeDBi Q5D862.
TreeFami TF338665.

Miscellaneous databases

GenomeRNAii 388698.
NextBioi 102296.
PROi Q5D862.

Gene expression databases

Bgeei Q5D862.
CleanExi HS_FLG2.
Genevestigatori Q5D862.

Family and domain databases

Gene3Di 1.10.238.10. 1 hit.
InterProi IPR011992. 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 ]
Pfami PF01023. S_100. 1 hit.
[Graphical view ]
PRINTSi PR00487. FILAGGRIN.
PROSITEi PS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00303. S100_CABP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human intermediate filament-associated protein family."
    Wu Z.
    Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Foreskin.
  2. "Identification and partial characterization of the human homolog of mouse flg-2."
    Listwan P., Rothnagel J.A.
    Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Bienvenut W.V., Calvo F., Kolch W.
    Submitted (MAR-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 7-17 AND 40-46, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Cervix carcinoma.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: October 29, 2014
This is version 90 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3