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Q5D862

- FILA2_HUMAN

UniProt

Q5D862 - FILA2_HUMAN

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Protein

Filaggrin-2

Gene
FLG2, IFPS
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 – 7312 Reviewed predictionAdd
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 4336EF-hand 1Add
BLAST
Domaini49 – 8436EF-hand 2Add
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-like By similarityAdd
BLAST

Compositional bias

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

Sequence similaritiesi

In the N-terminal section; belongs to the S-100 family.
Contains 2 EF-hand domains.
Contains 10 filaggrin repeats.

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

« 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: September 3, 2014
This is version 88 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