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
172551082007Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.54
203893112010Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.50
195709822009Differential regulation of elastic fiber formation by fibulin-4 and -5.40
225066832012Identification of EFEMP2 as a serum biomarker for the early detection of colorectal cancer with lectin affinity capture assisted secretome analysis of cultured fresh tissues.22
228294272013Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.21
237826902013Fibulin-3, -4, and -5 are highly susceptible to proteolysis, interact with cells and heparin, and form multimers.14
229431322012Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.13
281779092017Fibulin-4 is associated with prognosis of endometrial cancer patients and inhibits cancer cell invasion and metastasis via Wnt/β-catenin signaling pathway.12
164930802006Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis.11
283390912017Fibulin-4 promotes osteosarcoma invasion and metastasis by inducing epithelial to mesenchymal transition via the PI3K/Akt/mTOR pathway.10

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/efemp2