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FLASH GENE

Symbol

FBN2

contributors: mct - updated : 09-01-2018

HGNC name	fibrillin 2
HGNC id	3604

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001999 65 - 10724 NP_001990 311.52 2912 - 2008 18006876

EXPRESSION

Type

widely

constitutive of

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   vessels aorta       Reproductive female system placenta     highly respiratory lung bronchi       Respiratory respiratory tract larynx     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	expressed earlier than FBNL before tissue differentiation

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide, a Fcb-4 cys motif
	five structural motifs (A/E), B and D composed of repeated motifs (43 with a calcium binding sequence cb-EGF) eight cysteine residues motifs, one of the F, seven of the LT type
	two RGD motifs
	a C domain glycine-rich

isoforms

Precursor

HOMOLOGY

Homologene

FAMILY

fibrillin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION	playing a major role during early morphogenesis in directing elastic fibre assembly
	with FBN1, regulate lung fibroblast migration
	FBN1 and FBN2, the structural components of extracellular microfibrils, differentially regulate TGFbeta and bone morphogenetic protein (BMP) bioavailability in bone
	exerts a greater positive influence on the mechanical properties of bone than FBN1 assemblies, and the above findings are mostly, if not exclusively, related to the differetial control of TGFbeta family signaling by fibrillin proteins 2)
	both FBN1 and FBN2 are essential for the formation of thick oxytalan fibers in the ciliary zonule and are informative for clarifying the mechanism of homeostasis of the ocular matrix
	FBN1, FBN2, FBN3, are important in maintaining the structure and integrity of the extracellular matrix and, in combination with their sequence family members the LTBPs, also contribute to the regulation of the TGFB family of major growth factors
	both FBN1 and FBN2 expression is required to form thick oxytalan fibers in the periodontal ligament (PDL)
	can sequester BMP complexes in a latent state

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of extracellular microfibrils

INTERACTION

DNA

RNA

small molecule

protein	FBN2 and POSTN will be target candidates of SP7 in osteoblast differentiation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CCA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function by promoter region methylation in primary renal cell carcinoma tumoral     --low   silencing by methylation in esophageal squamous cell carcinoma constitutional     --over   in bicuspid aortic valve (BAV) in the ascending aorta, irrespective of dilatation, whereas MMP expression does not change significantly

Susceptibility

to macular degeneratio

Variant & Polymorphism other	rare and common variants in FBN2 are associated with macular degeneration

Candidate gene
Marker	FBN2, TNSC, MATN2, and MATN4 may be markers of the pathogenesis of either granular or lattice type I corneal dystrophy
Therapy target

ANIMAL & CELL MODELS

Fbn2 null mice are born with reduced muscle mass, abnormal muscle histology, and signs of activated BMP signaling in skeletal muscle