FLG2 (filaggrin family member 2)

2014-11-01  

Identity

HGNC
FLG2
LOCATION
1q21.3
LOCUSID
388698
ALIAS
IFPS,PSS6

Other Information

Locus ID:

NCBI: 388698
MIM: 616284
HGNC: 33276
Ensembl: ENSG00000143520

Variants:

dbSNP: 388698
ClinVar: 388698
TCGA: ENSG00000143520
COSMIC: FLG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143520ENST00000388718Q5D862

Expression (GTEx)

0
100
200
300
400
500
600
700
800
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

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
215317192011Deimination of human filaggrin-2 promotes its proteolysis by calpain 1.18
248139942014Expression of filaggrin-2 protein in the epidermis of human skin diseases: a comparative analysis with filaggrin.6
273040822017Expression of Cornified Envelope Proteins in Skin and Its Relationship with Atopic Dermatitis Phenotype.6
196019982009Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.3
289284642017GATA3 regulates FLG and FLG2 expression in human primary keratinocytes.3
193844172009Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family.0
241841492014Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects.0
263714762015Skin-Derived C-Terminal Filaggrin-2 Fragments Are Pseudomonas aeruginosa-Directed Antimicrobials Targeting Bacterial Replication.0
268581092016The expression profile of filaggrin-2 in the normal and pathologic human oral mucosa.0
297582852018Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.0

Citation

Dessen P

FLG2 (filaggrin family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63409/flg2