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
368073942024Human filaggrin monomer does not seem to be a proteasome target.1
376502962024Temporal relationships between Staphylococcus aureus colonization, filaggrin expression, and pediatric atopic dermatitis.0
383023282024Influence of household pet ownership and filaggrin loss-of-function mutations on eczema prevalence in children: A birth cohort study.0
384141832024Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study.0
385643022024Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.0
386772342024Immunolabeling for filaggrin and acidic keratins in the granular layer of mammalian epidermis indicates that an acidic-basic interaction is involved in cornification.0
389072482024Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis.0
389281702024Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians.0
368073942024Human filaggrin monomer does not seem to be a proteasome target.1
376502962024Temporal relationships between Staphylococcus aureus colonization, filaggrin expression, and pediatric atopic dermatitis.0
383023282024Influence of household pet ownership and filaggrin loss-of-function mutations on eczema prevalence in children: A birth cohort study.0
384141832024Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study.0
385643022024Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.0
386772342024Immunolabeling for filaggrin and acidic keratins in the granular layer of mammalian epidermis indicates that an acidic-basic interaction is involved in cornification.0
389072482024Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis.0

Citation

Dessen P

FLG (filaggrin)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

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