Protein FLG

URN urn:agi-llid:2312
Total Entities 0
Connectivity 964
Name FLG
Description filaggrin
Notes The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
Primary Cell Localization Cytoplasm

Pathway Epidermal Barrier Dysfunction in Atopic Dermatitis
Genes with Mutations Associated with Atopic Dermatitis
Proteins with Altered Expression in Atopic Dermatitis
Proteins Involved in Atopic Dermatitis
Atopic Dermatitis
Proteins Involved in Ichthyosis
Ichthyosis Vulgaris
Genes with Mutations Associated with Ichthyosis
Proteins with Altered Expression in Ichthyosis
IL22 Induces Keratinocyte Proliferation in Psoriasis
Proteins with Altered Expression in Psoriasis
Elevated Receptors -> Expression Targets in Skin
Dioxin Induced Chloracne (Hypothesis)
Overview. Diseases of the skin (chapter 11)
2_Acute phase initiation in atopic dermatitis
2_Interleukin-17 and interleukin-22 signaling in psoriasis
1_Ichthyosis vulgaris overview
Interleukin-17 and interleukin-22 signaling in psoriasis

Group Genes with Mutations Associated with Atopic Dermatitis
Genes with Mutations Associated with Psoriasis

MedScan ID 2312

LocusLink ID 2312

Alias fillaggrins
flaky tail protein
profilaggrin
filaggrin
profillaggrin
fillagrin
LOC400786
OTTHUMP00000014057
flaky tail mutant
Pflg
Filaggrin (profilaggrin)
ichthyosis vulgaris gene
epidermal filaggrin
LOC619541
Dermatitis, atopic, II
Dermatitis, atopic, 2
ATOD2
filaggrins
proFLG

GO ID 0005509
0030280
0005198
0046914
0070268
0061436
0030216
0007275
0018149
0062023
0001533
0005829
0005882
0043231
0036457
0005634
0016023

KEGG ID hsa:2312

Organism Homo sapiens {Organism urn:agi-taxid:9606}
Homo sapiens

OMIM ID 135940
605803
146700

Hugo ID 3748
HGNC:3748

Human chromosome position 1q21.3

Swiss-Prot Accession P20930
P20930.3
Q01720
Q5T583
Q9UC71

PIR ID A32947
A45135
A48118

GenBank ID NC_000001
NM_002016
NP_002007
NG_016190
AF043380
AAC23559
AH002947
AAA60177
AH003056
AAA63243
AL356504
CH471121
EAW53383
EAW53384
EAW53385
CS673440
CAP07487
CS690823
CAP11455
FB665576
CAR97069
GM706788
CAT82291
HF583667
CCQ43164
JN184345
AFH55054
JN184346
AFH55055
JN184347
AFH55056
JN184348
AFH55057
JN184349
AFH55058
JN184350
AFH55059
M60494
AAA63244
M96943
AAA36487
AB208881
BAD92118
L01090
AAA60176
M24355
AAA52454
M60495
AAA63245
M60499
AAA63246
M60500
AAA63247
M60502
AAA63248
P20930
XM_011509329
XP_011507631
NC_018912
AMYH02001891
L01088
L01089
M60503
GU014833
ACX32320
AC_000133
ABBA01049414

Swiss-Prot ID FILA_HUMAN

Cell Localization Cytoplasmic granule

Ensembl ID ENSG00000143631
ENSP00000357789.1
ENST00000368799.1
ENSP00000357789
ENST00000368799

Unigene ID Hs.654510