Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388698
Gene name Gene Name - the full gene name approved by the HGNC.
Filaggrin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FLG2
Synonyms (NCBI Gene) Gene synonyms aliases
IFPS, PSS6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PSS6
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated wi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017114 hsa-miR-335-5p Microarray 18185580
MIRT682833 hsa-miR-500b-3p HITS-CLIP 23706177
MIRT682832 hsa-miR-4704-3p HITS-CLIP 23706177
MIRT682831 hsa-miR-4264 HITS-CLIP 23706177
MIRT682830 hsa-miR-6499-3p HITS-CLIP 23706177
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IBA 21873635
GO:0005198 Function Structural molecule activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005576 Component Extracellular region TAS
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616284 33276 ENSG00000143520
Protein
UniProt ID Q5D862
Protein name Filaggrin-2 (FLG-2) (Intermediate filament-associated and psoriasis-susceptibility protein) (Ifapsoriasin)
Protein function Essential for normal cell-cell adhesion in the cornified cell layers (PubMed:29758285). Important for proper integrity and mechanical strength of the stratum corneum of the epidermis (PubMed:29505760). {ECO:0000269|PubMed:29505760, ECO:0000269|P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01023 S_100 4 46 S-100/ICaBP type calcium binding domain Domain
PF03516 Filaggrin 1224 1281 Filaggrin Repeat
PF03516 Filaggrin 1300 1356 Filaggrin Repeat
PF03516 Filaggrin 1377 1433 Filaggrin Repeat
PF03516 Filaggrin 1454 1510 Filaggrin Repeat
PF03516 Filaggrin 1587 1662 Filaggrin Repeat
PF03516 Filaggrin 1681 1737 Filaggrin Repeat
PF03516 Filaggrin 1756 1812 Filaggrin Repeat
PF03516 Filaggrin 1833 1889 Filaggrin Repeat
PF03516 Filaggrin 1908 1964 Filaggrin Repeat
PF03516 Filaggrin 1983 2039 Filaggrin Repeat
PF03516 Filaggrin 2058 2114 Filaggrin Repeat
PF03516 Filaggrin 2133 2189 Filaggrin Repeat
PF03516 Filaggrin 2208 2264 Filaggrin Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in skin, thymus, stomach and placenta, but not detected in heart, brain, liver, lung, bone marrow, small intestine, spleen, prostate, colon, adrenal gland, kidney, pancreas, mammary gland, bladder, thyroid, salivary gland and
Sequence
MTDLLRSVVTVIDVFYKYTKQDGECGTLSKGELKELLEKELHPVLKNPDDPDTVDVIMHM
LDRDHDRRLDFTEFLLMIFKLTMACNKVLSKEYCKASGSKKHRRGHRHQEEESETEEDEE
DTPGHKSGYRHSSWSEGEEHGYSSGHSRGTVKCRHGSNSRRLGRQGNLSSSGNQEGSQKR
YHRSSCGHSWSGGKDRHGSSSVELRERINKSHISPSRESGEEYESGSGSNSWERKGHGGL
SCGLETSGHESNSTQSRIREQKLGSSCSGSGDSGRRSHACGYSNSSGCGRPQNASSSCQS
HRFGGQGNQFSYIQSGCQSGIKGGQGHGCVSGGQPSGCGQPESNPCSQSYSQRGYGAREN
GQPQNCGGQWRTGSSQSSCCGQYGSGGSQSCSNGQHEYGSCGRFSNSSSSNEFSKCDQYG
SGSSQSTSFEQHGTGLSQSSGFEQHVCGSGQTCGQHESTSSQSLGYDQHGSSSGKTSGFG
QHGSGSGQSSGFGQCGSGSGQSSGFGQHGSVSGQSSGFGQHGSVSGQSSGFGQHESRSRQ
SSYGQHGSGSSQSSGYGQYGSRETSGFGQHGLGSGQSTGFGQYGSGSGQSSGFGQHGSGS
GQSSGFGQHESRSGQSSYGQHSSGSSQSSGYGQHGSRQTSGFGQHGSGSSQSTGFGQYGS
GSGQSSGFGQHVSGSGQSSGFGQHESRSGHSSYGQHGFGSSQSSGYGQHGSSSGQTSGFG
QHELSSGQSSSFGQHGSGSGQSSGFGQHGSGSGQSSGFGQHESRSGQSSYGQHSSGSSQS
SGYGQHGSRQTSGFGQHGSGSSQSTGFGQYGSGSGQSAGFGQHGSGSGQSSGFGQHESRS
HQSSYGQHGSGSSQSSGYGQHGSSSGQTSGFGQHRSSSGQYSGFGQHGSGSGQSSGFGQH
GTGSGQYSGFGQHESRSHQSSYGQHGSGSSQSSGYGQHGSSSGQTFGFGQHRSGSGQSSG
FGQHGSGSGQSSGFGQHESGSGKSSGFGQHESRSSQSNYGQHGSGSSQSSGYGQHGSSSG
QTTGFGQHRSSSGQYSGFGQHGSGSDQSSGFGQHGTGSGQSSGFGQYESRSRQSSYGQHG
SGSSQSSGYGQHGSNSGQTSGFGQHRPGSGQSSGFGQYGSGSGQSSGFGQHGSGTGKSSG
FAQHEYRSGQSSYGQHGTGSSQSSGCGQHESGSGPTTSFGQHVSGSDNFSSSGQHISDSG
QSTGFGQYGSGSGQSTGLGQGESQQVESGSTVHGRQETTHGQTINTTRHSQSGQGQSTQT
GSRVTRRRRSSQSENSDSEVH
SKVSHRHSEHIHTQAGSHYPKSGSTVRRRQGTTHGQRGD
TTRHGHSGHGQSTQTGSRTSGRQRFSHSDATDSEVH
SGVSHRPHSQEQTHSQAGSQHGES
ESTVHERHETTYGQTGEATGHGHSGHGQSTQRGSRTTGRRGSGHSESSDSEVH
SGGSHRP
QSQEQTHGQAGSQHGESGSTVHGRHGTTHGQTGDTTRHAHYHHGKSTQRGSSTTGRRGSG
HSESSDSEVH
SGGSHTHSGHTHGQSGSQHGESESIIHDRHRITHGQTGDTTRHSYSGHEQ
TTQTGSRTTGRQRTSHSESTDSEVHSGGSHRPHSREHTYGQAGSQHEEPEFTVHERHGTT
HGQIGDTTGHSHSGHGQSTQRGSRTTGRQRSSHSESSDSEVH
SGVSHTHTGHTHGQAGSQ
HGQSESIVPERHGTTHGQTGDTTRHAHYHHGLTTQTGSRTTGRRGSGHSEYSDSEGYSGV
SHTHSGHTHGQARSQHGESESIVHERHGTIHGQTGDTTRHAHSGHGQSTQTGSRTTGRRS
SGHSEYSDSEGH
SGFSQRPHSRGHTHGQAGSQHGESESIVDERHGTTHGQTGDTSGHSQS
GHGQSTQSGSSTTGRRRSGHSESSDSEVH
SGGSHTHSGHTHSQARSQHGESESTVHKRHQ
TTHGQTGDTTEHGHPSHGQTIQTGSRTTGRRGSGHSEYSDSEGP
SGVSHTHSGHTHGQAG
SHYPESGSSVHERHGTTHGQTADTTRHGHSGHGQSTQRGSRTTGRRASGHSEYSDSEGHS
GVSHTHSGHAHGQAGSQHGESGSSVHERHGTTHGQTGDTTRHAHSGHGQSTQRGSRTAGR
RGSGHSESSDSEVH
SGVSHTHSGHTYGQARSQHGESGSAIHGRQGTIHGQTGDTTRHGQS
GHGQSTQTGSRTTGRQRSSHSESSDSEVH
SEASPTHSGHTHSQAGSRHGQSGSSGHGRQG
TTHGQTGDTTRHAHYGYGQSTQRGSRTTGRRGSGHSESSDSEVH
SWGSHTHSGHIQGQAG
SQQRQPGSTVHGRLETTHGQTGDTTRHGHSGYGQSTQTGSRSSRASHFQSHSSERQRHGS
SQVWKHGSYGPAEYDYGHTGYGPSGGSRKSISNSHLSWSTDSTANKQLSRH
Sequence length 2391
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Peeling skin syndrome PEELING SKIN SYNDROME 3, PEELING SKIN SYNDROME 6, Peeling skin syndrome type A rs398122804, rs387906689, rs387906841, rs672601343, rs606231275, rs606231277, rs747711488, rs149474339, rs374612640, rs1050823116, rs1553219199, rs1246486951, rs755087362 28884927
Unknown
Disease term Disease name Evidence References Source
Peeling Skin Syndrome peeling skin syndrome type A GenCC
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Inhibit 32639640
Anemia Sickle Cell Associate 31079484
Cognitive Dysfunction Associate 25695608
Dermatitis Allergic Contact Inhibit 31783056
Dermatitis Atopic Associate 21211653, 24184149, 32151410, 32213830, 34984527
Dermatitis Atopic Inhibit 27304082
Dermatitis Atopic 1 Associate 32151410
Dystonic Disorders Associate 31640787
Eczema Associate 21490620
Ichthyosis Lamellar Associate 30032785