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FLASH GENE

Symbol

MMRN2

contributors: mct - updated : 25-10-2017

HGNC name	multimerin 2
HGNC id	19888

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q23.2      Physical location : 88.695.299 - 88.717.425
Synonym name	EMILIN-like protein EndoGlyx-1
	elastin microfibril interface located protein 3
	elastin microfibril interfacer 3
	endoGlyx-1 p125/p140 subunit
Synonym symbol(s)	FLJ13465, ENDOGLYX1, EndoGlyx-1, EMILIN3, EMILIN-3

DNA

TYPE	functioning gene
STRUCTURE	22.13 kb     7 Exon(s)

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_024756 7 - 4195 NP_079032 - 949 - 2012 22020326

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 Nervous ganglia sensory ganglia dorsal root     Visual eye uvea choroid       eye lacrimal gland

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous optic nerve

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a characteristic N-terminal cysteine-rich EMI domain , spanning &
	8764;80 amino acids and characterized by the presence of highly conserved cysteine residues located at regular positions
	one VWFC domain
	a signal sequence
	a C-terminal C1q-like domain separated from each other by a central coiled-coil

conjugated

GlycoP

mono polymer

trimer

HOMOLOGY

Homologene

FAMILY

EMILIN)/Multimerin family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	extracellular
text	Extracellular matrix

basic FUNCTION	forming the fibrils of tendon, ligaments and bones
	involved in cell-matrix adhesion and hemostasis
	extracellular matrix glycoprotein that is a crucial player in the regulation of EC function, neo-angiogenesis and hence tumor growth
	may potentially function as a homeostatic barrier halting the sprouting of novel vessels
	is able to function as an extracellular regulator of the activity of TGFB ligands (
	CLEC14A-MMRN2 binding has a role in inducing sprouting angiogenesis during tumour growth, which has the potential to be manipulated in future antiangiogenic therapy design
	exerts angiostatic functions by binding VEGFA and other pro-angiogenic cytokines
	role of MMRN2 as a key molecule regulating endothelial cell (EC) function and sprouting angiogenesis
	is a unique endothelial specific extracellular matrix protein that has been implicated in angiogenesis and tumour progression
	MMRN2 is a crucial player in the regulation of EC function, neo-angiogenesis and hence tumor growth

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forms disulfide-bonded homotrimers and higher order oligomers (

INTERACTION

DNA

RNA

small molecule

protein	bind heparin with high affinity, a property mediated by the EMI domain, thus revealing a new function for this domain that may contribute to the interaction of MMRN2 with other extracellular matrix and/or cell surface molecules (
	MMRN2 binds to the extracellular region of CLEC14A
	impairs tumor angiogenesis and growth by interfering with VEGFA/KDR pathway
	MMRN2 pan-endothelial extracellular matrix protein, is a specific ligand for CD93 (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer angiogenesis   blocking CLEC14A-MMRN2 binding inhibits sprouting angiogenesis and tumour growth

ANIMAL & CELL MODELS