EFEMP2 (EGF containing fibulin extracellular matrix protein 2)

2015-02-01  

Identity

HGNC
EFEMP2
LOCATION
11q13.1
LOCUSID
30008
ALIAS
ARCL1B,FBLN4,MBP1,UPH1

Other Information

Locus ID:

NCBI: 30008
MIM: 604633
HGNC: 3219
Ensembl: ENSG00000172638

Variants:

dbSNP: 30008
ClinVar: 30008
TCGA: ENSG00000172638
COSMIC: EFEMP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172638ENST00000307998O95967
ENSG00000172638ENST00000307998A0A024R5G1
ENSG00000172638ENST00000524408H0YCR9
ENSG00000172638ENST00000526624E9PKA3
ENSG00000172638ENST00000526911H0YEU0
ENSG00000172638ENST00000527277H0YCB5
ENSG00000172638ENST00000527378E9PRQ8
ENSG00000172638ENST00000528176E9PRU1
ENSG00000172638ENST00000530806E9PI47
ENSG00000172638ENST00000530850E9PNB8
ENSG00000172638ENST00000531645H0YET5
ENSG00000172638ENST00000531972O95967
ENSG00000172638ENST00000531972A0A024R5G1
ENSG00000172638ENST00000533347E9PSC1

Expression (GTEx)

0
50
100
150
200
250
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
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Molecules associated with elastic fibresREACTOMER-HSA-2129379

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
381133912024Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.0
381133912024Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm.0
365651922023Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity.2
374201732023EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling to promote the invasion of ovarian cancer cells.3
365651922023Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity.2
374201732023EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling to promote the invasion of ovarian cancer cells.3
359503732022Downregulation of fibulin-4 inhibits autophagy and promotes the sensitivity of esophageal squamous cell carcinoma cells to apatinib by activating the Akt-mTOR signaling pathway.3
360046472022EFEMP2 increases the invasion ability of cervical cancer cells by promoting EMT via the Raf/MEK/ERK signaling pathway.4
363166422022STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2.3
359503732022Downregulation of fibulin-4 inhibits autophagy and promotes the sensitivity of esophageal squamous cell carcinoma cells to apatinib by activating the Akt-mTOR signaling pathway.3
360046472022EFEMP2 increases the invasion ability of cervical cancer cells by promoting EMT via the Raf/MEK/ERK signaling pathway.4
363166422022STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2.3
323968732020EFEMP2 indicates assembly of M0 macrophage and more malignant phenotypes of glioma.32
323968732020EFEMP2 indicates assembly of M0 macrophage and more malignant phenotypes of glioma.32
311256162019Molecular dynamics simulations on human fibulin-4 mutants D203A and E126K reveal conformational changes in EGF domains potentially responsible for enhanced protease lability and impaired extracellular matrix assembly.2

Citation

Dessen P

EFEMP2 (EGF containing fibulin extracellular matrix protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54977/css/lib/dataTables.bootstrap.min.css