FILA_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
FLG
Protein names and data:
FILA_HUMAN
, Filaggrin
Lenght: 4061 a.a.
Mass: 435170 Da
fasta formatted sequence
Function:
Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.
Disease:
( OMIM:
135940
146700
605803
)
Ichthyosis vulgaris (VI) [MIM:146700]: The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever. Note=The disease is caused by mutations affecting the gene represented in this entry. Dermatitis atopic 2 (ATOD2) [MIM:605803]: Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue specificity:
Keratohyalin granules.
Genetic variants
332 - 332
G -> V (in dbSNP:rs41267154). VAR_061049
41267154
444 - 444
G -> R (in dbSNP:rs11588170). VAR_061050
11588170
454 - 454
T -> A (in dbSNP:rs2011331). VAR_059155
2011331
478 - 478
P -> S (in dbSNP:rs11584340). VAR_059156
11584340
725 - 725
T -> I (in dbSNP:rs3120655). VAR_059157
3120655
742 - 742
S -> Y (in dbSNP:rs3120654). VAR_061051
3120654
1184 - 1184
S -> L (in dbSNP:rs3120649). VAR_045968
3120649
1376 - 1376
R -> G (in dbSNP:rs11581433). VAR_045969
11581433
1437 - 1437
R -> C (in dbSNP:rs12750571). VAR_045970
12750571
1482 - 1482
S -> Y (in dbSNP:rs11204978). VAR_059158
11204978
1684 - 1684
R -> H (in dbSNP:rs12407807). VAR_061052
12407807
1699 - 1699
R -> C (in dbSNP:rs12405278). VAR_059159
12405278
1750 - 1750
S -> F (in dbSNP:rs3120647). VAR_059160
3120647
1805 - 1805
A -> V (in dbSNP:rs12405241). VAR_045971
12405241
1816 - 1816
H -> Q (in dbSNP:rs12073613). VAR_059161
12073613
1891 - 1891
R -> Q (in dbSNP:rs12407748). VAR_059162
12407748
1961 - 1961
H -> Q (in dbSNP:rs3126079). VAR_045972
3126079
2022 - 2022
I -> T (in dbSNP:rs3120655). VAR_045973
3120655
2108 - 2108
A -> V (in dbSNP:rs7522925). VAR_059163
7522925
2119 - 2119
Y -> H (in dbSNP:rs7512553). VAR_059164
7512553
2194 - 2194
Y -> H (in dbSNP:rs2184953). VAR_059165
2184953
2507 - 2507
H -> Q (in dbSNP:rs3126074). VAR_045974
3126074
2540 - 2540
R -> Q (in dbSNP:rs12407748). VAR_048472
12407748
2545 - 2545
G -> R (in dbSNP:rs3126072). VAR_059166
3126072
2781 - 2781
D -> Y (in dbSNP:rs2065958). VAR_048473
2065958
3105 - 3105
Y -> D (in dbSNP:rs2065958). VAR_059167
2065958
3179 - 3179
V -> G (in dbSNP:rs2065957). VAR_059168
2065957
3371 - 3371
S -> F (in dbSNP:rs3120647). VAR_048474
3120647
3396 - 3396
S -> P (in dbSNP:rs11584340). VAR_048475
11584340
3415 - 3415
H -> Y (in dbSNP:rs7512553). VAR_048476
7512553
3427 - 3427
S -> Y (in dbSNP:rs11204978). VAR_048477
11204978
3436 - 3436
G -> A (in dbSNP:rs2065955). VAR_033931
2065955
3437 - 3437
H -> Q (in dbSNP:rs12073613). VAR_048478
12073613
3490 - 3490
R -> C (in dbSNP:rs2184953). VAR_048479
2184953
3503 - 3503
W -> G (in dbSNP:rs12728908). VAR_059169
12728908
3512 - 3512
Q -> R (in dbSNP:rs12407748). VAR_048480
12407748
3564 - 3564
R -> H (in dbSNP:rs7518080). VAR_059170
7518080
3584 - 3584
D -> N (in dbSNP:rs3814300). VAR_048481
3814300
3593 - 3593
E -> D (in dbSNP:rs12083389). VAR_059171
12083389
3630 - 3630
H -> Y (in dbSNP:rs9436065). VAR_059172
9436065
3695 - 3695
S -> F (in dbSNP:rs3120647). VAR_048482
3120647
3696 - 3696
T -> A (in dbSNP:rs2011331). VAR_048483
2011331
3720 - 3720
S -> P (in dbSNP:rs11584340). VAR_048484
11584340
3739 - 3739
H -> Y (in dbSNP:rs7512553). VAR_048485
7512553
3751 - 3751
S -> Y (in dbSNP:rs11204978). VAR_048486
11204978
3760 - 3760
G -> A (in dbSNP:rs2065955). VAR_048487
2065955
3761 - 3761
H -> Q (in dbSNP:rs12073613). VAR_048488
12073613
3814 - 3814
R -> C (in dbSNP:rs2184953). VAR_048489
2184953
3827 - 3827
G -> W (in dbSNP:rs12728908). VAR_048490
12728908
3908 - 3908
D -> N (in dbSNP:rs3814300). VAR_048491
3814300
3935 - 3935
S -> P (in dbSNP:rs3126065). VAR_048492
3126065
3970 - 3970
S -> L (in dbSNP:rs3814299). VAR_048493
3814299
Database cross-references
UniProt:
P20930
Ensembl:
ENST00000368799
MIM:
135940
MIM:
146700
MIM:
605803
neXtProt:
NX_P20930
Antibodypedia:
P20930
(may not find the protein thus also not any antibody)
Local full text data:
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