MEFV (MEFV innate immuity regulator, pyrin)

2010-10-01 Affiliation

Identity

HGNC

MEFV

LOCATION

16p13.3

LOCUSID

4210

ALIAS

FMF,MEF,PAAND,TRIM20

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: 4210
MIM: 608107
HGNC: 6998
Ensembl: ENSG00000103313

Variants:

dbSNP: 4210
ClinVar: 4210
TCGA: ENSG00000103313
COSMIC: MEFV

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000103313	ENST00000219596	O15553
ENSG00000103313	ENST00000339854	F8W6Z2
ENSG00000103313	ENST00000536379	O15553
ENSG00000103313	ENST00000536980	F5GZV9
ENSG00000103313	ENST00000537682	F5H2E5
ENSG00000103313	ENST00000538326	F5H6N9
ENSG00000103313	ENST00000539145	D2DTW1
ENSG00000103313	ENST00000541159	O15553
ENSG00000103313	ENST00000542898	F5H595
ENSG00000103313	ENST00000570511	I3L0S7
ENSG00000103313	ENST00000572244	E3P8H6
ENSG00000103313	ENST00000574583	D2DTW1
ENSG00000103313	ENST00000576315	D2DTW1

Expression (GTEx)

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
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways	REACTOME	R-HSA-168643
Inflammasomes	REACTOME	R-HSA-622312
The NLRP3 inflammasome	REACTOME	R-HSA-844456

References

Pubmed ID	Year	Title	Citations
38128830	2024	MEFV variants are a predisposing factor for generalized pustular psoriasis.	0
38128830	2024	MEFV variants are a predisposing factor for generalized pustular psoriasis.	0
35258407	2023	Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1.	0
36376520	2023	Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome?	2
36449313	2023	Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients.	0
36870084	2023	Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisting of M694V Mutation and Implications for Colchicine-Resistant Disease.	0
36889987	2023	MEFV gene mutation spectrum in patients with familial mediterranean fever.	0
36898527	2023	Post COVID recurrent fever in children with polymorphisms in the innate immunity regulator, pyrin; MEFV gene.	0
36966139	2023	Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.	4
37216220	2023	Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association.	0
37286266	2023	Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.	0
37676738	2023	A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.	2
37787552	2023	Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.	0
38250061	2023	The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.	1
35258407	2023	Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1.	0

Citation

Dessen P

MEFV (MEFV innate immuity regulator, pyrin)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51694/js/lib/favicon/case-report-explorer/