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FLASH GENE

Symbol

MFAP2

contributors: mct - updated : 07-04-2014

HGNC name	microfibrillar-associated protein 2
HGNC id	7033

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	7.08 kb     9 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

regionally located

close to the FBN2 gene

RNA

TRANSCRIPTS	type	messenger

text	two alternative 5'untranslated exons

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed MAGP1B - - - - - - 2002 1179671 intracellularly expressed NM_017459 9 - 1105 NP_059453 - 183 - 2002 1179671 NM_001135247 9 - 1120 NP_001128719 - 182 - 2002 1179671 NM_001135248 9 - 1121 NP_001128720 - 182 - 2002 1179671 NM_002403 9 - 1124 NP_002394 - 183 - 2002 1179671

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       highly Nervous nerve cranial nerve     highly Skeleton axial skull face maxilla     axial skeleton skull face mandible

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal half of the molecule contains sites for tyrosine sulfation and transglutaminase cross-linking as well as all of the tri- and tetrasaccharide O-linked sugars
	stretch of 5 GIN residues
	a C terminal matrix-binding domain that targets MFAP2 to the ECM, and a carboxyl half containing 13 cysteines, forming a limited region of similarity with MFAP5

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

small microfibril-associated proteins family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,cytoplasm,cytoskeleton,intermed filament
text	associated with microfibrils in the extracellular matrix

basic FUNCTION	microfibrillar associated glycoprotein 2, component of the elastin-associated microfibrils
	small glycoprotein covalently bound to microfibrils by disulfide linkages and specifically located on the beads of the beaded-filament structure of the microfibrils
	protein component of fibrillin-containing microfibrils where it partners with MFAP5 and other microfibril-associated proteins to define microfibril function
	play a role in elastin fiber assembly
	is a potential regulator of bone remodeling, and its absence results in osteopenia associated with an increase in osteoclast number
	MFAP2 and MFAP5 have discrete functions in hematopoiesis
	unlike MFAP2, MFAP5 has little or no role in normal bone homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	a ternary complex with BGN and ELN
	component of microfibrils of the extracellular matrix

INTERACTION

DNA

RNA

small molecule

protein	interacts with the 8-cysteine motif of fibrillin-2 encoded by exon 24 (may be altered interaction in congenital contractural arachnodactyly contributing to the severity)
	binding distinct regions of FBN1
	binds to tropoelastin and type VI collagen
	MFAP2 and MFAP5 both have the ability to bind NOTCH1, JAG1, JAG2, and Delta1
	its regulation of TGFB is protective against the effects of metabolic stress, and its absence predisposes to metabolic dysfunction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to severe congenital contractural arachnodactyly to obesity

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	genetic deletion of extracellular Magp1 in mice results in an array of phenotypes, including a bleeding diathesis, obesity, and osteopenia
	Mfap2-/- in mice results in adipocyte hypertrophy and predisposition to metabolic dysfunction