Q5D862 (FILA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2391 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Polymorphism
Domain	Repeat
Ligand	Calcium Metal-binding
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro structural molecule activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2391	2391	Filaggrin-2		PRO_0000331454
Regions
	Domain	8 – 43	36	EF-hand 1
	Domain	49 – 84	36	EF-hand 2
	Repeat	245 – 289	45	Filaggrin 1
	Repeat	421 – 466	46	Filaggrin 2
	Repeat	1019 – 1051	33	Filaggrin 3
	Repeat	1097 – 1141	45	Filaggrin 4
	Repeat	1455 – 1510	56	Filaggrin 5
	Repeat	1607 – 1662	56	Filaggrin 6
	Repeat	1757 – 1812	56	Filaggrin 7
	Repeat	1928 – 1964	37	Filaggrin 8
	Repeat	1984 – 2039	56	Filaggrin 9
	Repeat	2134 – 2189	56	Filaggrin 10
	Calcium binding	62 – 73	12	Potential
	Region	1 – 81	81	S-100-like By similarity
	Compositional bias	132 – 1289	1158	Ser-rich
Amino acid modifications
	Modified residue	113	1	Phosphoserine By similarity
	Modified residue	115	1	Phosphothreonine By similarity
	Modified residue	169	1	Phosphoserine By similarity
	Modified residue	1048	1	Phosphoserine By similarity
	Modified residue	1112	1	Phosphoserine By similarity
	Modified residue	1125	1	Phosphoserine By similarity
	Modified residue	1504	1	Phosphoserine By similarity
	Modified residue	1505	1	Phosphoserine By similarity
	Modified residue	1732	1	Phosphoserine By similarity
	Modified residue	2034	1	Phosphoserine By similarity
	Modified residue	2040	1	Phosphoserine By similarity
	Modified residue	2272	1	Phosphoserine By similarity
	Modified residue	2281	1	Phosphoserine By similarity
Natural variations
	Natural variant	41	1	L → F. Corresponds to variant rs3818831 [ dbSNP | Ensembl ].		VAR_042868
	Natural variant	107	1	R → Q. Corresponds to variant rs2282304 [ dbSNP | Ensembl ].		VAR_042869
	Natural variant	137	1	G → E. Corresponds to variant rs6587667 [ dbSNP | Ensembl ].		VAR_042870
	Natural variant	276	1	R → Q. Corresponds to variant rs2282303 [ dbSNP | Ensembl ].		VAR_042871
	Natural variant	298	1	C → S. Corresponds to variant rs2282302 [ dbSNP | Ensembl ].		VAR_042872
	Natural variant	723	1	E → K. Corresponds to variant rs16842865 [ dbSNP | Ensembl ].		VAR_042873
	Natural variant	881	1	Y → S. Corresponds to variant rs12411129 [ dbSNP | Ensembl ].		VAR_042874
	Natural variant	958	1	S → Y. Corresponds to variant rs12411129 [ dbSNP | Ensembl ].		VAR_059173
	Natural variant	1249	1	H → R. Corresponds to variant rs16833974 [ dbSNP | Ensembl ].		VAR_042875
	Natural variant	1992	1	E → D. Corresponds to variant rs1858484 [ dbSNP | Ensembl ].		VAR_042876
	Natural variant	2239	1	Q → H. Corresponds to variant rs12736606 [ dbSNP | Ensembl ].		VAR_042877

Sequences

	Sequence		Length	Mass (Da)
	Q5D862 [UniParc]. Last modified March 29, 2005. Version 1. Checksum: 8BC74DE89E0DDC05	FASTA	2,391	248,073
	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

References

	« Hide 'large scale' referencesShow '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. , 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, 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.
IPI	IPI00397801.
RefSeq	NP_001014364.1. NM_001014342.2.
UniGene	Hs.156124.
3D structure databases
HSSP	HSSP built from PDB template 1J55 based on UniProtKB P25815.
ProteinModelPortal	Q5D862.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5D862. 6 interactions.
STRING	9606.ENSP00000373370.
PTM databases
PhosphoSite	Q5D862.
Polymorphism databases
DMDM	74755309.
2D gel databases
UCD-2DPAGE	Q5D862.
Proteomic databases
PaxDb	Q5D862.
PRIDE	Q5D862.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000388718; ENSP00000373370; ENSG00000143520.
GeneID	388698.
KEGG	hsa:388698.
UCSC	uc001ezw.4. human.
Organism-specific databases
CTD	388698.
GeneCards	GC01M152321.
HGNC	HGNC:33276. FLG2.
HPA	HPA028699.
neXtProt	NX_Q5D862.
PharmGKB	PA162388694.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000112590.
InParanoid	Q5D862.
KO	K10384.
OMA	SRDAGRQ.
OrthoDB	EOG4RJG10.
Gene expression databases
Bgee	Q5D862.
CleanEx	HS_FLG2.
Genevestigator	Q5D862.
Family and domain databases
Gene3D	1.10.238.10. 1 hit.
InterPro	IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. IPR003303. Filaggrin. IPR001751. S100/CaBP-9k_CS. IPR013787. S100_Ca-bd_sub. [Graphical view]
Pfam	PF01023. S_100. 1 hit. [Graphical view]
PRINTS	PR00487. FILAGGRIN.
PROSITE	PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 2 hits. PS00303. S100_CABP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	388698.
NextBio	102296.

Entry information

Entry name

FILA2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 76 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.