EMILIN2 (elastin microfibril interfacer 2)

2010-07-01  

Identity

HGNC
EMILIN2
LOCATION
18p11.32
LOCUSID
84034
ALIAS
EMILIN-2,FOAP-10
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84034
MIM: 608928
HGNC: 19881
Ensembl: ENSG00000132205

Variants:

dbSNP: 84034
ClinVar: 84034
TCGA: ENSG00000132205
COSMIC: EMILIN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132205ENST00000254528Q9BXX0

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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
355882282022Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer.1
355882282022Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer.1
342804812021Expression, methylation and prognostic feature of EMILIN2 in Low-Grade-Glioma.5
342804812021Expression, methylation and prognostic feature of EMILIN2 in Low-Grade-Glioma.5
294836442018The ablation of the matricellular protein EMILIN2 causes defective vascularization due to impaired EGFR-dependent IL-8 production affecting tumor growth.35
305449092018Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis.16
294836442018The ablation of the matricellular protein EMILIN2 causes defective vascularization due to impaired EGFR-dependent IL-8 production affecting tumor growth.35
305449092018Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis.16
254456272015Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains.6
254456272015Multiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains.6
243748072014EMILIN2 down-modulates the Wnt signalling pathway and suppresses breast cancer cell growth and migration.28
243748072014EMILIN2 down-modulates the Wnt signalling pathway and suppresses breast cancer cell growth and migration.28
235934592013Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.3
235934592013Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.3
203609402010The extracellular matrix glycoprotein elastin microfibril interface located protein 2: a dual role in the tumor microenvironment.27

Citation

Dessen P

EMILIN2 (elastin microfibril interfacer 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-07-01

Online version: http://atlasgeneticsoncology.org/gene/51561/case-report-explorer/gene-explorer/humanGenome