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Q5D862 (FILA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Filaggrin-2

Short name=FLG-2
Alternative name(s):
Intermediate filament-associated and psoriasis-susceptibility protein
Short name=Ifapsoriasin
Gene names
Name:FLG2
Synonyms:IFPS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2391 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the S100-fused protein family.

In the N-terminal section; belongs to the S-100 family.

Contains 2 EF-hand domains.

Contains 10 filaggrin repeats.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DomainRepeat
   LigandCalcium
Metal-binding
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processestablishment of skin barrier

Inferred from expression pattern PubMed 23403047. Source: UniProt

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 19384417. Source: UniProt

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

structural molecule activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 23912391Filaggrin-2
PRO_0000331454

Regions

Domain8 – 4336EF-hand 1
Domain49 – 8436EF-hand 2
Repeat245 – 28945Filaggrin 1
Repeat421 – 46646Filaggrin 2
Repeat1019 – 105133Filaggrin 3
Repeat1097 – 114145Filaggrin 4
Repeat1455 – 151056Filaggrin 5
Repeat1607 – 166256Filaggrin 6
Repeat1757 – 181256Filaggrin 7
Repeat1928 – 196437Filaggrin 8
Repeat1984 – 203956Filaggrin 9
Repeat2134 – 218956Filaggrin 10
Calcium binding62 – 7312 Potential
Region1 – 8181S-100-like By similarity
Compositional bias132 – 12891158Ser-rich

Natural variations

Natural variant411L → F.
Corresponds to variant rs3818831 [ dbSNP | Ensembl ].
VAR_042868
Natural variant1071R → Q.
Corresponds to variant rs2282304 [ dbSNP | Ensembl ].
VAR_042869
Natural variant1371G → E.
Corresponds to variant rs6587667 [ dbSNP | Ensembl ].
VAR_042870
Natural variant2761R → Q.
Corresponds to variant rs2282303 [ dbSNP | Ensembl ].
VAR_042871
Natural variant2981C → S.
Corresponds to variant rs2282302 [ dbSNP | Ensembl ].
VAR_042872
Natural variant7231E → K.
Corresponds to variant rs16842865 [ dbSNP | Ensembl ].
VAR_042873
Natural variant8811Y → S.
Corresponds to variant rs12411129 [ dbSNP | Ensembl ].
VAR_042874
Natural variant9581S → Y.
Corresponds to variant rs12411129 [ dbSNP | Ensembl ].
VAR_059173
Natural variant12491H → R.
Corresponds to variant rs16833974 [ dbSNP | Ensembl ].
VAR_042875
Natural variant19921E → D.
Corresponds to variant rs1858484 [ dbSNP | Ensembl ].
VAR_042876
Natural variant22391Q → H.
Corresponds to variant rs12736606 [ dbSNP | Ensembl ].
VAR_042877

Sequences

Sequence LengthMass (Da)Tools
Q5D862 [UniParc].

Last modified March 29, 2005. Version 1.
Checksum: 8BC74DE89E0DDC05

FASTA2,391248,073
        10         20         30         40         50         60 
MTDLLRSVVT VIDVFYKYTK QDGECGTLSK GELKELLEKE LHPVLKNPDD PDTVDVIMHM 

        70         80         90        100        110        120 
LDRDHDRRLD FTEFLLMIFK LTMACNKVLS KEYCKASGSK KHRRGHRHQE EESETEEDEE 

       130        140        150        160        170        180 
DTPGHKSGYR HSSWSEGEEH GYSSGHSRGT VKCRHGSNSR RLGRQGNLSS SGNQEGSQKR 

       190        200        210        220        230        240 
YHRSSCGHSW SGGKDRHGSS SVELRERINK SHISPSRESG EEYESGSGSN SWERKGHGGL 

       250        260        270        280        290        300 
SCGLETSGHE SNSTQSRIRE QKLGSSCSGS GDSGRRSHAC GYSNSSGCGR PQNASSSCQS 

       310        320        330        340        350        360 
HRFGGQGNQF SYIQSGCQSG IKGGQGHGCV SGGQPSGCGQ PESNPCSQSY SQRGYGAREN 

       370        380        390        400        410        420 
GQPQNCGGQW RTGSSQSSCC GQYGSGGSQS CSNGQHEYGS CGRFSNSSSS NEFSKCDQYG 

       430        440        450        460        470        480 
SGSSQSTSFE QHGTGLSQSS GFEQHVCGSG QTCGQHESTS SQSLGYDQHG SSSGKTSGFG 

       490        500        510        520        530        540 
QHGSGSGQSS GFGQCGSGSG QSSGFGQHGS VSGQSSGFGQ HGSVSGQSSG FGQHESRSRQ 

       550        560        570        580        590        600 
SSYGQHGSGS SQSSGYGQYG SRETSGFGQH GLGSGQSTGF GQYGSGSGQS SGFGQHGSGS 

       610        620        630        640        650        660 
GQSSGFGQHE SRSGQSSYGQ HSSGSSQSSG YGQHGSRQTS GFGQHGSGSS QSTGFGQYGS 

       670        680        690        700        710        720 
GSGQSSGFGQ HVSGSGQSSG FGQHESRSGH SSYGQHGFGS SQSSGYGQHG SSSGQTSGFG 

       730        740        750        760        770        780 
QHELSSGQSS SFGQHGSGSG QSSGFGQHGS GSGQSSGFGQ HESRSGQSSY GQHSSGSSQS 

       790        800        810        820        830        840 
SGYGQHGSRQ TSGFGQHGSG SSQSTGFGQY GSGSGQSAGF GQHGSGSGQS SGFGQHESRS 

       850        860        870        880        890        900 
HQSSYGQHGS GSSQSSGYGQ HGSSSGQTSG FGQHRSSSGQ YSGFGQHGSG SGQSSGFGQH 

       910        920        930        940        950        960 
GTGSGQYSGF GQHESRSHQS SYGQHGSGSS QSSGYGQHGS SSGQTFGFGQ HRSGSGQSSG 

       970        980        990       1000       1010       1020 
FGQHGSGSGQ SSGFGQHESG SGKSSGFGQH ESRSSQSNYG QHGSGSSQSS GYGQHGSSSG 

      1030       1040       1050       1060       1070       1080 
QTTGFGQHRS SSGQYSGFGQ HGSGSDQSSG FGQHGTGSGQ SSGFGQYESR SRQSSYGQHG 

      1090       1100       1110       1120       1130       1140 
SGSSQSSGYG QHGSNSGQTS GFGQHRPGSG QSSGFGQYGS GSGQSSGFGQ HGSGTGKSSG 

      1150       1160       1170       1180       1190       1200 
FAQHEYRSGQ SSYGQHGTGS SQSSGCGQHE SGSGPTTSFG QHVSGSDNFS SSGQHISDSG 

      1210       1220       1230       1240       1250       1260 
QSTGFGQYGS GSGQSTGLGQ GESQQVESGS TVHGRQETTH GQTINTTRHS QSGQGQSTQT 

      1270       1280       1290       1300       1310       1320 
GSRVTRRRRS SQSENSDSEV HSKVSHRHSE HIHTQAGSHY PKSGSTVRRR QGTTHGQRGD 

      1330       1340       1350       1360       1370       1380 
TTRHGHSGHG QSTQTGSRTS GRQRFSHSDA TDSEVHSGVS HRPHSQEQTH SQAGSQHGES 

      1390       1400       1410       1420       1430       1440 
ESTVHERHET TYGQTGEATG HGHSGHGQST QRGSRTTGRR GSGHSESSDS EVHSGGSHRP 

      1450       1460       1470       1480       1490       1500 
QSQEQTHGQA GSQHGESGST VHGRHGTTHG QTGDTTRHAH YHHGKSTQRG SSTTGRRGSG 

      1510       1520       1530       1540       1550       1560 
HSESSDSEVH SGGSHTHSGH THGQSGSQHG ESESIIHDRH RITHGQTGDT TRHSYSGHEQ 

      1570       1580       1590       1600       1610       1620 
TTQTGSRTTG RQRTSHSEST DSEVHSGGSH RPHSREHTYG QAGSQHEEPE FTVHERHGTT 

      1630       1640       1650       1660       1670       1680 
HGQIGDTTGH SHSGHGQSTQ RGSRTTGRQR SSHSESSDSE VHSGVSHTHT GHTHGQAGSQ 

      1690       1700       1710       1720       1730       1740 
HGQSESIVPE RHGTTHGQTG DTTRHAHYHH GLTTQTGSRT TGRRGSGHSE YSDSEGYSGV 

      1750       1760       1770       1780       1790       1800 
SHTHSGHTHG QARSQHGESE SIVHERHGTI HGQTGDTTRH AHSGHGQSTQ TGSRTTGRRS 

      1810       1820       1830       1840       1850       1860 
SGHSEYSDSE GHSGFSQRPH SRGHTHGQAG SQHGESESIV DERHGTTHGQ TGDTSGHSQS 

      1870       1880       1890       1900       1910       1920 
GHGQSTQSGS STTGRRRSGH SESSDSEVHS GGSHTHSGHT HSQARSQHGE SESTVHKRHQ 

      1930       1940       1950       1960       1970       1980 
TTHGQTGDTT EHGHPSHGQT IQTGSRTTGR RGSGHSEYSD SEGPSGVSHT HSGHTHGQAG 

      1990       2000       2010       2020       2030       2040 
SHYPESGSSV HERHGTTHGQ TADTTRHGHS GHGQSTQRGS RTTGRRASGH SEYSDSEGHS 

      2050       2060       2070       2080       2090       2100 
GVSHTHSGHA HGQAGSQHGE SGSSVHERHG TTHGQTGDTT RHAHSGHGQS TQRGSRTAGR 

      2110       2120       2130       2140       2150       2160 
RGSGHSESSD SEVHSGVSHT HSGHTYGQAR SQHGESGSAI HGRQGTIHGQ TGDTTRHGQS 

      2170       2180       2190       2200       2210       2220 
GHGQSTQTGS RTTGRQRSSH SESSDSEVHS EASPTHSGHT HSQAGSRHGQ SGSSGHGRQG 

      2230       2240       2250       2260       2270       2280 
TTHGQTGDTT RHAHYGYGQS TQRGSRTTGR RGSGHSESSD SEVHSWGSHT HSGHIQGQAG 

      2290       2300       2310       2320       2330       2340 
SQQRQPGSTV HGRLETTHGQ TGDTTRHGHS GYGQSTQTGS RSSRASHFQS HSSERQRHGS 

      2350       2360       2370       2380       2390 
SQVWKHGSYG PAEYDYGHTG YGPSGGSRKS ISNSHLSWST DSTANKQLSR H 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY827490 mRNA. Translation: AAX12417.1.
DQ118293 Genomic DNA. Translation: AAZ99029.1.
AL356504 Genomic DNA. Translation: CAC13173.2.
RefSeqNP_001014364.1. NM_001014342.2.
UniGeneHs.156124.

3D structure databases

ProteinModelPortalQ5D862.
SMRQ5D862. Positions 11-97.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid132815. 16 interactions.
IntActQ5D862. 7 interactions.
MINTMINT-6488800.
STRING9606.ENSP00000373370.

PTM databases

PhosphoSiteQ5D862.

Polymorphism databases

DMDM74755309.

2D gel databases

UCD-2DPAGEQ5D862.

Proteomic databases

PaxDbQ5D862.
PRIDEQ5D862.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000388718; ENSP00000373370; ENSG00000143520.
GeneID388698.
KEGGhsa:388698.
UCSCuc001ezw.4. human.

Organism-specific databases

CTD388698.
GeneCardsGC01M152321.
HGNCHGNC:33276. FLG2.
HPAHPA028699.
neXtProtNX_Q5D862.
PharmGKBPA162388694.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000112590.
InParanoidQ5D862.
KOK10384.
OMAGTTHAQS.
OrthoDBEOG7BP821.
PhylomeDBQ5D862.
TreeFamTF338665.

Gene expression databases

BgeeQ5D862.
CleanExHS_FLG2.
GenevestigatorQ5D862.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
InterProIPR011992. 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]
PfamPF01023. S_100. 1 hit.
[Graphical view]
PRINTSPR00487. FILAGGRIN.
PROSITEPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 2 hits.
PS00303. S100_CABP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi388698.
NextBio102296.
PROQ5D862.

Entry information

Entry nameFILA2_HUMAN
AccessionPrimary (citable) accession number: Q5D862
Secondary accession number(s): Q9H4U1
Entry history
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: March 29, 2005
Last modified: April 16, 2014
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM