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FLASH GENE

Symbol

FBN3

contributors: mct/npt - updated : 26-01-2010

HGNC name	fibrillin 3
HGNC id	18794

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	82.10 kb     63 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	with several transcript variants

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032447 67 - 8967 NP_115823 - 2809 - Urbanek (2007)

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 brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis     Membrane advantitia perichondrium     Muscular striatum skeletal     visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	expressed early in development (embryonic and fetal tissues)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	44 EGF-like domain
	multiple cysteine-rich domains
	nine TGFBP (TGF-beta binding protein) repeats

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

fibrillin family

CATEGORY

secretory , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix protein

basic FUNCTION	structural component of connective tissue microfibrils that binds calcium
	fibrillin-containing microfibrils provide long-term force bearing structural support
	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

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Polycystic ovary syndrome (PCOS)(minor role) (Prodoehl 2009)

Variant & Polymorphism other	allele A8 of D19S884, dinucleotide repeat microsatellite marker, which is located in intron 55 of the fibrillin-3 (FBN3) gene, is the chromosome 19p13.2 PCOS susceptibility locus (Urbanek 2007)

Candidate gene	for WMS2
Marker
Therapy target

ANIMAL & CELL MODELS