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FLASH GENE
Symbol FBN2 contributors: mct - updated : 09-01-2018
HGNC name fibrillin 2
HGNC id 3604
Corresponding disease
CCA contractural arachnodactyly, congenital, Marfan-like disorder
Location 5q23.3      Physical location : 127.593.601 - 127.873.735
Synonym name fibrillin 5
Synonym symbol(s) DA9, CCA, EOMD
DNA
TYPE functioning gene
STRUCTURE 280.13 kb     65 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure exon 24 which encodes for an RGD-containing transforming growth factor-beta-binding (TB) domain, stimulated migration
MAPPING cloned Y linked Y status confirmed
Physical map
KIAA1281 5q23.2 KIAA1281 protein LOC391828 5 similar to ribosomal protein L28 LOC391829 5 similar to High mobility group protein 1-like 10 (HMG-1L10) LOC389319 5 LOC389319 NS3TP2 5q23.3 HCV NS3-transactivated protein 2 ALDH7A1 5q31 aldehyde dehydrogenase 7 family, member A1 PHAX 5q23.3 likely ortholog of mouse phosphorylated adaptor for RNA export LOC133609 5q23.3 similar to 60S acidic ribosomal protein P1 LOC389320 5 hypothetical gene supported by AK131015 LOC285008 5q23.3 hypothetical gene supported by BC028282; BC028282; BC028282 LMNB1 5q23.3-q31.1 lamin B1 LOC389321 5 LOC389321 MGC48332 5q23.3 hypothetical protein MGC48332 MRPS5P3 5q23.3 mitochondrial ribosomal protein S5 pseudogene LOC345818 5q23.3 similar to RNA binding motif protein 15; one twenty two protein MEGF10 5q33 MEGF10 protein LOC389322 5 similar to heterogeneous nuclear ribonucleoprotein K LOC133619 5q23.3 hypothetical protein MGC12103 LOC391831 5 similar to Cullin homolog 1 (CUL-1) LOC389323 5 similar to hypothetical protein LOC389324 5 LOC389324 SLC12A2 5q23.3 solute carrier family 12 (sodium/potassium/chloride transporters), member 2 FBN2 5q23-q31 fibrillin 2 (congenital contractural arachnodactyly) SLC27A6 5q23.3 solute carrier family 27 (fatty acid transporter), member 6 CGI-111 5q22.1-q33.3 CGI-111 protein ADAMTS19 5q31 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 CSS3 5q31.1 chondroitin sulfate synthase 3 LOC133629 5q31.1 similar to ribosomal protein L11 LOC133628 5q31.1 similar to splicing factor 4 isoform a; RNA-binding protein HINT1 5q31.2 histidine triad nucleotide binding protein 1 LOC90624 5q31.1 hypothetical protein LOC90624 SPEC2 5q31 hypothetical protein LOC90624 PDZGEF2 5q31.1 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 ACTBP4 5q23.3 actin, beta pseudogene 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
65 - 10724 311.52 2912 - 2008 18006876
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
 vesselsaorta   
Reproductivefemale systemplacenta  highly
respiratorylungbronchi   
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivecartilage   
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    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