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FLASH GENE

Symbol

MFAP5

contributors: mct - updated : 07-04-2014

HGNC name	microfibrillar associated protein 5
HGNC id	29673

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	TAAD7 thoracic aortic aneurysm with aortic dissection 7, familial
Location	12p13.31      Physical location : 8.798.539 - 8.815.433
Genatlas name	microfibril-associated glycoprotein 2
Synonym symbol(s)	MP25, MAGP2

DNA

TYPE	functioning gene
STRUCTURE	16.94 kb     10 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_003480 10 - 2900 NP_003471 25 173 - 2002 11796718

EXPRESSION

Type

widely

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 valve     highly Mus musculus   vessel aorta     highly Mus musculus Reproductive female system uterus         female system placenta     highly   male system prostate       Respiratory lung         Mus musculus Urinary kidney         Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	RGD integrin-binding motif located at the N terminus, and the N terminal lacking proline, glutamine and tyrosine-rich sequences
	serine threonine residues,
	C-terminal sequence similar to the matrix-binding domain of MFAP2 with 7 cysteine residues

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

small microfibril-associated proteins family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,cytoplasm,cytoskeleton,intermed filament
text	extracellular elastin-associated microfibrils

basic FUNCTION	extracellular matrix structural constituent
	exhibits a restricted tissue and developmental pattern of distribution,and itmay have a specialized role than in microfibril biology
	protein component of fibrillin-containing microfibrils where it partners with MFAP2 and other microfibril-associated proteins to define microfibril function
	plays an important role in the physiology of the ECM through interactions with different microfibrillar components such as fibrillin-1, fibrillin-2, fibulin-1, and tropoelastine
	through alpha(V)beta(3) integrin-mediated signaling, MFAP5 promotes tumor and endothelial cell survival and endothelial cell motility
	it is possible that MFAP5 is related to extracellular matrix (ECM) remodeling during development of obesity
	is a secreted protein associated with multiple cellular activities including the organization of elastic fibers in the extracellular matrix (ECM), angiogenesis, as well as regulating Notch and integrin signaling
	has functional roles in hematopoiesis and in vessel wall maintenance
	MFAP2 and MFAP5 have discrete functions in hematopoiesis
	has unique, MFAP2-independent functions in hematopoiesis and MFAPs have redundant functions in large vessels
	unlike MFAP2, MFAP5 has little or no role in normal bone homeostasis
	plays a role in the biology of the hematopoietic and vascular systems, suggesting that MFAP5 is capable of regulating growth factor bioavailability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forms intermolecular disulfide bonds either with other MAGP2 molecules or with other components of the microfibrils
	component of microfibrils of the extracellular matrix

INTERACTION

DNA

RNA

small molecule

protein	binding distinct regions of FBN1
	covalently associated with fibrillin-containing microfibrils
	MFAP2 and MFAP5 both have the ability to bind NOTCH1, JAG1, JAG2, and Delta1
	binds active TGFB1, TGFB2, and BMP2

cell & other

interacts with elastin fibers and the microfibrillar network

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TAAD7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in ovarian cancer correlated with microvessel density suggesting a proangiogenic role, and may serve as a survival-associated target 0)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Mfap5 -/- mice have a neutrophil deficiency
	homozygous Mfap5 knockout mice display only hematopoietic features characterized by neutropenia