FLG (filaggrin)

2014-01-01  

Identity

HGNC
FLG
LOCATION
1q21.3
LOCUSID
2312
ALIAS
ATOD2

Other Information

Locus ID:

NCBI: 2312
MIM: 135940
HGNC: 3748
Ensembl: ENSG00000143631

Variants:

dbSNP: 2312
ClinVar: 2312
TCGA: ENSG00000143631
COSMIC: FLG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143631ENST00000368799P20930

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
165501692006Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.481
219919532011Filaggrin mutations associated with skin and allergic diseases.201
174176362007Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.140
221585542012One remarkable molecule: filaggrin.101
202080042010Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis.94
195898162009Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis.91
168151582006Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.81
183255732008The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study.80
183255732008The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study.80
183963232008Filaggrin mutations, atopic eczema, hay fever, and asthma in children.75

Citation

Dessen P

FLG (filaggrin)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53756/flg