FLG2 (filaggrin family member 2)

2014-11-01 Affiliation

Identity

HGNC

FLG2

LOCATION

1q21.3

LOCUSID

388698

ALIAS

IFPS,PSS6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000143520	ENST00000388718	Q5D862

Expression (GTEx)

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

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36930145	2023	Scleral Proteome in Noninfectious Scleritis Unravels Upregulation of Filaggrin-2 and Signs of Neovascularization.	1
36930145	2023	Scleral Proteome in Noninfectious Scleritis Unravels Upregulation of Filaggrin-2 and Signs of Neovascularization.	1
34543471	2022	Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.	6
34984527	2022	Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort.	4
34543471	2022	Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.	6
34984527	2022	Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort.	4
32437351	2020	Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation.	6
32437351	2020	Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation.	6
30528829	2019	The Amino-Terminal Part of Human FLG2 Is a Component of Cornified Envelopes.	12
31079484	2019	Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients.	3
30528829	2019	The Amino-Terminal Part of Human FLG2 Is a Component of Cornified Envelopes.	12
31079484	2019	Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients.	3
29758285	2018	Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.	20
30419833	2018	Soluble fibrinogen-like protein 2 levels in patients with hepatitis B virus-related liver diseases.	8
29758285	2018	Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.	20

Citation

Dessen P

FLG2 (filaggrin family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63409/img/img/logo-atlas-4.svg