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Q5D862

- FILA2_HUMAN

UniProt

Q5D862 - FILA2_HUMAN

Protein

Filaggrin-2

Gene

FLG2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (29 Mar 2005)
      Previous versions | rss
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    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

    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

    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.
    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

    MTDLLRSVVT VIDVFYKYTK QDGECGTLSK GELKELLEKE LHPVLKNPDD     50
    PDTVDVIMHM LDRDHDRRLD FTEFLLMIFK LTMACNKVLS KEYCKASGSK 100
    KHRRGHRHQE EESETEEDEE DTPGHKSGYR HSSWSEGEEH GYSSGHSRGT 150
    VKCRHGSNSR RLGRQGNLSS SGNQEGSQKR YHRSSCGHSW SGGKDRHGSS 200
    SVELRERINK SHISPSRESG EEYESGSGSN SWERKGHGGL SCGLETSGHE 250
    SNSTQSRIRE QKLGSSCSGS GDSGRRSHAC GYSNSSGCGR PQNASSSCQS 300
    HRFGGQGNQF SYIQSGCQSG IKGGQGHGCV SGGQPSGCGQ PESNPCSQSY 350
    SQRGYGAREN GQPQNCGGQW RTGSSQSSCC GQYGSGGSQS CSNGQHEYGS 400
    CGRFSNSSSS NEFSKCDQYG SGSSQSTSFE QHGTGLSQSS GFEQHVCGSG 450
    QTCGQHESTS SQSLGYDQHG SSSGKTSGFG QHGSGSGQSS GFGQCGSGSG 500
    QSSGFGQHGS VSGQSSGFGQ HGSVSGQSSG FGQHESRSRQ SSYGQHGSGS 550
    SQSSGYGQYG SRETSGFGQH GLGSGQSTGF GQYGSGSGQS SGFGQHGSGS 600
    GQSSGFGQHE SRSGQSSYGQ HSSGSSQSSG YGQHGSRQTS GFGQHGSGSS 650
    QSTGFGQYGS GSGQSSGFGQ HVSGSGQSSG FGQHESRSGH SSYGQHGFGS 700
    SQSSGYGQHG SSSGQTSGFG QHELSSGQSS SFGQHGSGSG QSSGFGQHGS 750
    GSGQSSGFGQ HESRSGQSSY GQHSSGSSQS SGYGQHGSRQ TSGFGQHGSG 800
    SSQSTGFGQY GSGSGQSAGF GQHGSGSGQS SGFGQHESRS HQSSYGQHGS 850
    GSSQSSGYGQ HGSSSGQTSG FGQHRSSSGQ YSGFGQHGSG SGQSSGFGQH 900
    GTGSGQYSGF GQHESRSHQS SYGQHGSGSS QSSGYGQHGS SSGQTFGFGQ 950
    HRSGSGQSSG FGQHGSGSGQ SSGFGQHESG SGKSSGFGQH ESRSSQSNYG 1000
    QHGSGSSQSS GYGQHGSSSG QTTGFGQHRS SSGQYSGFGQ HGSGSDQSSG 1050
    FGQHGTGSGQ SSGFGQYESR SRQSSYGQHG SGSSQSSGYG QHGSNSGQTS 1100
    GFGQHRPGSG QSSGFGQYGS GSGQSSGFGQ HGSGTGKSSG FAQHEYRSGQ 1150
    SSYGQHGTGS SQSSGCGQHE SGSGPTTSFG QHVSGSDNFS SSGQHISDSG 1200
    QSTGFGQYGS GSGQSTGLGQ GESQQVESGS TVHGRQETTH GQTINTTRHS 1250
    QSGQGQSTQT GSRVTRRRRS SQSENSDSEV HSKVSHRHSE HIHTQAGSHY 1300
    PKSGSTVRRR QGTTHGQRGD TTRHGHSGHG QSTQTGSRTS GRQRFSHSDA 1350
    TDSEVHSGVS HRPHSQEQTH SQAGSQHGES ESTVHERHET TYGQTGEATG 1400
    HGHSGHGQST QRGSRTTGRR GSGHSESSDS EVHSGGSHRP QSQEQTHGQA 1450
    GSQHGESGST VHGRHGTTHG QTGDTTRHAH YHHGKSTQRG SSTTGRRGSG 1500
    HSESSDSEVH SGGSHTHSGH THGQSGSQHG ESESIIHDRH RITHGQTGDT 1550
    TRHSYSGHEQ TTQTGSRTTG RQRTSHSEST DSEVHSGGSH RPHSREHTYG 1600
    QAGSQHEEPE FTVHERHGTT HGQIGDTTGH SHSGHGQSTQ RGSRTTGRQR 1650
    SSHSESSDSE VHSGVSHTHT GHTHGQAGSQ HGQSESIVPE RHGTTHGQTG 1700
    DTTRHAHYHH GLTTQTGSRT TGRRGSGHSE YSDSEGYSGV SHTHSGHTHG 1750
    QARSQHGESE SIVHERHGTI HGQTGDTTRH AHSGHGQSTQ TGSRTTGRRS 1800
    SGHSEYSDSE GHSGFSQRPH SRGHTHGQAG SQHGESESIV DERHGTTHGQ 1850
    TGDTSGHSQS GHGQSTQSGS STTGRRRSGH SESSDSEVHS GGSHTHSGHT 1900
    HSQARSQHGE SESTVHKRHQ TTHGQTGDTT EHGHPSHGQT IQTGSRTTGR 1950
    RGSGHSEYSD SEGPSGVSHT HSGHTHGQAG SHYPESGSSV HERHGTTHGQ 2000
    TADTTRHGHS GHGQSTQRGS RTTGRRASGH SEYSDSEGHS GVSHTHSGHA 2050
    HGQAGSQHGE SGSSVHERHG TTHGQTGDTT RHAHSGHGQS TQRGSRTAGR 2100
    RGSGHSESSD SEVHSGVSHT HSGHTYGQAR SQHGESGSAI HGRQGTIHGQ 2150
    TGDTTRHGQS GHGQSTQTGS RTTGRQRSSH SESSDSEVHS EASPTHSGHT 2200
    HSQAGSRHGQ SGSSGHGRQG TTHGQTGDTT RHAHYGYGQS TQRGSRTTGR 2250
    RGSGHSESSD SEVHSWGSHT HSGHIQGQAG SQQRQPGSTV HGRLETTHGQ 2300
    TGDTTRHGHS GYGQSTQTGS RSSRASHFQS HSSERQRHGS SQVWKHGSYG 2350
    PAEYDYGHTG YGPSGGSRKS ISNSHLSWST DSTANKQLSR H 2391
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    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 1, 2014
    This is version 89 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