FLG2 (filaggrin 2)

Gene

• Entrez ID: 388698
• Gene name: Filaggrin 2
• Gene symbol: FLG2
• Synonyms (NCBI Gene): IFPS, PSS6
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: 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

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
MIRT682829	hsa-miR-3934-3p	HITS-CLIP	23706177
MIRT682828	hsa-miR-3135b	HITS-CLIP	23706177
MIRT682827	hsa-miR-504-3p	HITS-CLIP	23706177
MIRT682826	hsa-miR-122-5p	HITS-CLIP	23706177
MIRT682825	hsa-miR-3652	HITS-CLIP	23706177
MIRT682824	hsa-miR-4430	HITS-CLIP	23706177
MIRT682823	hsa-miR-4466	HITS-CLIP	23706177
MIRT682822	hsa-miR-675-5p	HITS-CLIP	23706177
MIRT682821	hsa-miR-6879-3p	HITS-CLIP	23706177
MIRT682820	hsa-miR-143-5p	HITS-CLIP	23706177
MIRT682819	hsa-miR-1178-3p	HITS-CLIP	23706177
MIRT682818	hsa-miR-5698	HITS-CLIP	23706177
MIRT496245	hsa-miR-4499	PAR-CLIP	22291592
MIRT496244	hsa-miR-4494	PAR-CLIP	22291592
MIRT496243	hsa-miR-4750-3p	PAR-CLIP	22291592
MIRT496242	hsa-miR-4725-5p	PAR-CLIP	22291592
MIRT496241	hsa-miR-4513	PAR-CLIP	22291592
MIRT496240	hsa-miR-6855-3p	PAR-CLIP	22291592
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
MIRT682829	hsa-miR-3934-3p	HITS-CLIP	23706177
MIRT682828	hsa-miR-3135b	HITS-CLIP	23706177
MIRT682827	hsa-miR-504-3p	HITS-CLIP	23706177
MIRT682826	hsa-miR-122-5p	HITS-CLIP	23706177
MIRT682825	hsa-miR-3652	HITS-CLIP	23706177
MIRT682824	hsa-miR-4430	HITS-CLIP	23706177
MIRT682823	hsa-miR-4466	HITS-CLIP	23706177
MIRT682822	hsa-miR-675-5p	HITS-CLIP	23706177
MIRT682821	hsa-miR-6879-3p	HITS-CLIP	23706177
MIRT682820	hsa-miR-143-5p	HITS-CLIP	23706177
MIRT682819	hsa-miR-1178-3p	HITS-CLIP	23706177
MIRT682818	hsa-miR-5698	HITS-CLIP	23706177
MIRT496245	hsa-miR-4499	PAR-CLIP	22291592
MIRT496244	hsa-miR-4494	PAR-CLIP	22291592
MIRT496243	hsa-miR-4750-3p	PAR-CLIP	22291592
MIRT496242	hsa-miR-4725-5p	PAR-CLIP	22291592
MIRT496241	hsa-miR-4513	PAR-CLIP	22291592
MIRT496240	hsa-miR-6855-3p	PAR-CLIP	22291592
MIRT998274	hsa-miR-1178	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT998276	hsa-miR-1299	CLIP-seq
MIRT998277	hsa-miR-134	CLIP-seq
MIRT998278	hsa-miR-3118	CLIP-seq
MIRT998279	hsa-miR-3136-5p	CLIP-seq
MIRT998280	hsa-miR-3148	CLIP-seq
MIRT998281	hsa-miR-3167	CLIP-seq
MIRT998282	hsa-miR-3187-3p	CLIP-seq
MIRT998283	hsa-miR-3609	CLIP-seq
MIRT998284	hsa-miR-3647-3p	CLIP-seq
MIRT998285	hsa-miR-3660	CLIP-seq
MIRT998286	hsa-miR-3663-5p	CLIP-seq
MIRT998287	hsa-miR-4435	CLIP-seq
MIRT998288	hsa-miR-4439	CLIP-seq
MIRT998289	hsa-miR-4526	CLIP-seq
MIRT998290	hsa-miR-4668-3p	CLIP-seq
MIRT998291	hsa-miR-4701-5p	CLIP-seq
MIRT998292	hsa-miR-4755-3p	CLIP-seq
MIRT998293	hsa-miR-4762-3p	CLIP-seq
MIRT998294	hsa-miR-4781-3p	CLIP-seq
MIRT998295	hsa-miR-499a-5p	CLIP-seq
MIRT998296	hsa-miR-548ah	CLIP-seq
MIRT998297	hsa-miR-548s	CLIP-seq
MIRT998298	hsa-miR-588	CLIP-seq
MIRT998299	hsa-miR-617	CLIP-seq
MIRT998300	hsa-miR-640	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq
MIRT998302	hsa-miR-875-3p	CLIP-seq
MIRT998303	hsa-miR-875-5p	CLIP-seq
MIRT998304	hsa-miR-876-5p	CLIP-seq
MIRT998274	hsa-miR-1178	CLIP-seq
MIRT1995888	hsa-miR-1200	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT1995889	hsa-miR-1307	CLIP-seq
MIRT1995890	hsa-miR-4638-5p	CLIP-seq
MIRT998299	hsa-miR-617	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq
MIRT998274	hsa-miR-1178	CLIP-seq
MIRT2229905	hsa-miR-1182	CLIP-seq
MIRT2229906	hsa-miR-1205	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT1995889	hsa-miR-1307	CLIP-seq
MIRT2229907	hsa-miR-1909	CLIP-seq
MIRT2229908	hsa-miR-2116	CLIP-seq
MIRT2229909	hsa-miR-217	CLIP-seq
MIRT2229910	hsa-miR-3074-5p	CLIP-seq
MIRT2229911	hsa-miR-4284	CLIP-seq
MIRT2229912	hsa-miR-4418	CLIP-seq
MIRT1995890	hsa-miR-4638-5p	CLIP-seq
MIRT2229913	hsa-miR-4659a-3p	CLIP-seq
MIRT2229914	hsa-miR-4659b-3p	CLIP-seq
MIRT2229915	hsa-miR-4772-3p	CLIP-seq
MIRT2229916	hsa-miR-509-3-5p	CLIP-seq
MIRT2229917	hsa-miR-509-5p	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT1995889	hsa-miR-1307	CLIP-seq
MIRT2229911	hsa-miR-4284	CLIP-seq
MIRT1995890	hsa-miR-4638-5p	CLIP-seq
MIRT2229915	hsa-miR-4772-3p	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq
MIRT998274	hsa-miR-1178	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT2449751	hsa-miR-1289	CLIP-seq
MIRT1995889	hsa-miR-1307	CLIP-seq
MIRT2229909	hsa-miR-217	CLIP-seq
MIRT2449752	hsa-miR-3130-3p	CLIP-seq
MIRT2449753	hsa-miR-3149	CLIP-seq
MIRT998281	hsa-miR-3167	CLIP-seq
MIRT2449754	hsa-miR-3198	CLIP-seq
MIRT2449755	hsa-miR-411	CLIP-seq
MIRT2229911	hsa-miR-4284	CLIP-seq
MIRT2449756	hsa-miR-4294	CLIP-seq
MIRT2449757	hsa-miR-4309	CLIP-seq
MIRT2449758	hsa-miR-431	CLIP-seq
MIRT2229912	hsa-miR-4418	CLIP-seq
MIRT2449759	hsa-miR-4532	CLIP-seq
MIRT1995890	hsa-miR-4638-5p	CLIP-seq
MIRT2449760	hsa-miR-4735-5p	CLIP-seq
MIRT2449761	hsa-miR-4761-5p	CLIP-seq
MIRT2229915	hsa-miR-4772-3p	CLIP-seq
MIRT2449762	hsa-miR-4775	CLIP-seq
MIRT2449763	hsa-miR-483-5p	CLIP-seq
MIRT2229916	hsa-miR-509-3-5p	CLIP-seq
MIRT2229917	hsa-miR-509-5p	CLIP-seq
MIRT2449764	hsa-miR-590-3p	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq
MIRT998304	hsa-miR-876-5p	CLIP-seq
MIRT2449765	hsa-miR-924	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT1995889	hsa-miR-1307	CLIP-seq
MIRT2229911	hsa-miR-4284	CLIP-seq
MIRT1995890	hsa-miR-4638-5p	CLIP-seq
MIRT2229915	hsa-miR-4772-3p	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT1995889	hsa-miR-1307	CLIP-seq
MIRT2229909	hsa-miR-217	CLIP-seq
MIRT2449752	hsa-miR-3130-3p	CLIP-seq
MIRT2449753	hsa-miR-3149	CLIP-seq
MIRT2229911	hsa-miR-4284	CLIP-seq
MIRT2229912	hsa-miR-4418	CLIP-seq
MIRT2449759	hsa-miR-4532	CLIP-seq
MIRT1995890	hsa-miR-4638-5p	CLIP-seq
MIRT2449760	hsa-miR-4735-5p	CLIP-seq
MIRT2229915	hsa-miR-4772-3p	CLIP-seq
MIRT2449762	hsa-miR-4775	CLIP-seq
MIRT2229916	hsa-miR-509-3-5p	CLIP-seq
MIRT2229917	hsa-miR-509-5p	CLIP-seq
MIRT2449764	hsa-miR-590-3p	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq
MIRT998275	hsa-miR-122	CLIP-seq
MIRT1995889	hsa-miR-1307	CLIP-seq
MIRT2229911	hsa-miR-4284	CLIP-seq
MIRT2449759	hsa-miR-4532	CLIP-seq
MIRT1995890	hsa-miR-4638-5p	CLIP-seq
MIRT2229915	hsa-miR-4772-3p	CLIP-seq
MIRT998301	hsa-miR-675	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IBA
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
GO:0005737	Component	Cytoplasm	IDA	19384417
GO:0005737	Component	Cytoplasm	IEA
GO:0007155	Process	Cell adhesion	IMP	29758285
GO:0036457	Component	Keratohyalin granule	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0046914	Function	Transition metal ion binding	IEA
GO:0048730	Process	Epidermis morphogenesis	IMP	29505760, 29758285
GO:0061436	Process	Establishment of skin barrier	IBA
GO:0061436	Process	Establishment of skin barrier	IEP	23403047
GO:1904724	Component	Tertiary granule lumen	TAS

Other IDs

• MIM: 616284
• HGNC: 33276
• e!Ensembl: 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
  GSRVTRRRRSSQSENSDSEVHSKVSHRHSEHIHTQAGSHYPKSGSTVRRRQGTTHGQRGD
  TTRHGHSGHGQSTQTGSRTSGRQRFSHSDATDSEVHSGVSHRPHSQEQTHSQAGSQHGES
  ESTVHERHETTYGQTGEATGHGHSGHGQSTQRGSRTTGRRGSGHSESSDSEVHSGGSHRP
  QSQEQTHGQAGSQHGESGSTVHGRHGTTHGQTGDTTRHAHYHHGKSTQRGSSTTGRRGSG
  HSESSDSEVHSGGSHTHSGHTHGQSGSQHGESESIIHDRHRITHGQTGDTTRHSYSGHEQ
  TTQTGSRTTGRQRTSHSESTDSEVHSGGSHRPHSREHTYGQAGSQHEEPEFTVHERHGTT
  HGQIGDTTGHSHSGHGQSTQRGSRTTGRQRSSHSESSDSEVHSGVSHTHTGHTHGQAGSQ
  HGQSESIVPERHGTTHGQTGDTTRHAHYHHGLTTQTGSRTTGRRGSGHSEYSDSEGYSGV
  SHTHSGHTHGQARSQHGESESIVHERHGTIHGQTGDTTRHAHSGHGQSTQTGSRTTGRRS
  SGHSEYSDSEGHSGFSQRPHSRGHTHGQAGSQHGESESIVDERHGTTHGQTGDTSGHSQS
  GHGQSTQSGSSTTGRRRSGHSESSDSEVHSGGSHTHSGHTHSQARSQHGESESTVHKRHQ
  TTHGQTGDTTEHGHPSHGQTIQTGSRTTGRRGSGHSEYSDSEGPSGVSHTHSGHTHGQAG
  SHYPESGSSVHERHGTTHGQTADTTRHGHSGHGQSTQRGSRTTGRRASGHSEYSDSEGHS
  GVSHTHSGHAHGQAGSQHGESGSSVHERHGTTHGQTGDTTRHAHSGHGQSTQRGSRTAGR
  RGSGHSESSDSEVHSGVSHTHSGHTYGQARSQHGESGSAIHGRQGTIHGQTGDTTRHGQS
  GHGQSTQTGSRTTGRQRSSHSESSDSEVHSEASPTHSGHTHSQAGSRHGQSGSSGHGRQG
  TTHGQTGDTTRHAHYGYGQSTQRGSRTTGRRGSGHSESSDSEVHSWGSHTHSGHIQGQAG
  SQQRQPGSTVHGRLETTHGQTGDTTRHGHSGYGQSTQTGSRSSRASHFQSHSSERQRHGS
  SQVWKHGSYGPAEYDYGHTGYGPSGGSRKSISNSHLSWSTDSTANKQLSRH

• Sequence length: 2391

Pathways

Reactome:

Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Peeling skin syndrome 6	Likely pathogenic; Pathogenic	rs1050823116, rs1553219199	RCV000677212 RCV000677213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FLG2-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN SYNDROME TYPE A	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Inhibit	32639640	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Associate	31079484	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Associate	25695608	★☆☆☆☆ Found in Text Mining only
Dermatitis Allergic Contact	Inhibit	31783056	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Associate	21211653, 24184149, 32151410, 32213830, 34984527	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Inhibit	27304082	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Associate	32151410	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Associate	31640787	★☆☆☆☆ Found in Text Mining only
Eczema	Associate	21490620	★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Associate	30032785	★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Associate	19384417	★☆☆☆☆ Found in Text Mining only
Kaposi Varicelliform Eruption	Inhibit	21211653	★☆☆☆☆ Found in Text Mining only
Leg Ulcer	Associate	31079484	★☆☆☆☆ Found in Text Mining only
Lymphoma T Cell Cutaneous	Associate	32213830, 36122387	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	33255265	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	33255265	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	35735060	★☆☆☆☆ Found in Text Mining only
Peanut Hypersensitivity	Associate	36403663	★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Associate	29758285	★☆☆☆☆ Found in Text Mining only
Pruritus	Associate	32639640	★☆☆☆☆ Found in Text Mining only
Scleritis	Stimulate	36930145	★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Associate	36735267	★☆☆☆☆ Found in Text Mining only