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FLASH GENE

Symbol

EMILIN2

contributors: mct - updated : 14-12-2022

HGNC name	elastin microfibril interfacer 2
HGNC id	19881

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	18p11.32      Physical location : 2.847.027 - 2.914.088
Synonym name	elastin microfibril interfase located protein
	extracellular glycoprotein EMILIN2 precursor
Synonym symbol(s)	FOAP-10, EMILIN-2, FLJ33200

DNA

TYPE	functioning gene
STRUCTURE	69.78 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032048 8 - 5944 NP_114437 - 1053 - 2018 29483644

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly   vessels aorta     lowly Digestive intestine large intestine caecum   lowly Hearing/Equilibrium ear inner cochlea     Reproductive male system prostate     lowly Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Blood/Hematopoietic progenitor cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	highly in heart, lowly in brain, spleen, thymus and placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal cysteine-rich EMI domain,
	a long segment with high probabilty for coiled-coil structure formation
	a short collagenous stalk
	eight potential N glycosylation sites
	a C-terminal gC1q domain

conjugated

GlycoP

mono polymer

homomer , trimer

isoforms

Precursor

containing a putative polyadenylation site in the 3

HOMOLOGY

intraspecies

homolog to murine Emilin2

Homologene

FAMILY

EMILIN family, EMI domain containing superfamily

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	cochlear basilar membrane component
	extracellular matrix glycoprotein

basic FUNCTION	may be responsible for anchoring smooth muscle cells to elastic fibers
	may be involved not only in the formation of elastic fibers but also in the processes that regulate vessel assembly
	could play a role in thrombosis as a constituent of the vessel wall and/or a component of the thrombus
	down-modulates the Wnt signalling pathway and suppresses breast cancer cell growth and migration
	role as a prothrombotic risk factor may arise from its effects on platelet aggregation and platelet mediated clot retraction
	potential involvement of EMILIN1, EMILIN2 in fibrillin-related skin disorders
	EMILIN1, EMILIN2, and EMILIN3 are microfibril-associated glycoproteins known to modulate cell behaviour, growth factor activity, and ECM assembly
	role of EMILINs in dentinogenesis, pulp biology, and inflammation
	EMILIN2 is an important onco-regulator exerting pleiotropic effects on the gastric cancer microenvironment

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

EMILIN/multimerin/EMILIN 2

INTERACTION

DNA

RNA

small molecule

protein	head-to-tail interaction between C-terminal and N-terminal domains of EMILIN1 and/or EMILIN2 but also by tail-to-tail interaction between gC1q domains
	EMILIN1 may attenuate the effects of EMILIN2 on platelet aggregation and thrombosis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function impairs the frequency of hematopoietic stem/progenitor cells in bone marrow during aging

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	EMILIN2 might be a potential target for clinical diagnosis of ovarian cancer
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary potential target for treatment of ovarian cancer

ANIMAL & CELL MODELS