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FBN1 Gene

protein-coding GIFtS: 63

GC15M048700

fibrillin 1
(Previous name: fibrillin 1 (Marfan syndrome) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: FBN, MFS1, WMS)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
fibrillin 1¹ ²		WMS² ⁵
MASS¹ ²		MFS1² ⁵
OCTD¹ ²		fibrillin 1 (Marfan syndrome)¹
SGS¹ ²		fibrillin-1²
FBN² ³		fibrillin 15²
SSKS² ⁵

External Ids:	HGNC: 3603¹	Entrez Gene: 2200²	Ensembl: ENSG00000166147⁷	UniProtKB: P35555³

Search outside databases for aliases for FBN1 gene

Previous GC identifers: GC15M044259 GC15M041748 GC15M046281 GC15M046418 GC15M046489

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FBN1:

This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein

that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force

bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are

associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome,

and Shprintzen-Goldberg craniosynostosis syndrome. (provided by RefSeq)

UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555

Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur

either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term

force bearing structural support

Gene Wiki entry for FBN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FBN1 gene upstream (promoter) region

:
Egr-1 NF-kappaB NF-kappaB1 ATF SRF HOXA9B Meis-1 Cart-1 FOXL1 AP-4

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for FBN1:

MePH28239-1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.1 Ensembl cytogenetic band: 15q21.1 HGNC cytogenetic band: 15q21.1

FBN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M048700: view genomic region (about GC identifiers)

Start:	48,700,505 bp from pter
End:	48,937,918 bp from pter
Size:	237,414 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000015.9 NT_010194.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555 (See protein sequence)

Recommended Name: Fibrillin-1 precursor

Size: 2871 amino acids; 312298 Da

Subunit: Interacts with COL16A1

Subcellular location: Secreted, extracellular space, extracellular matrix

Sequence caution: Sequence=CAA45118.1; Type=Erroneous initiation;

PDB structures from and Proteopedia :

1APJ (3D)

1EMN (3D)

1EMO (3D)

1LMJ (3D)

1UZJ (3D)

1UZK (3D)

1UZP (3D)

1UZQ (3D)

2W86 (3D)

Secondary accessions: B2RUU0 Q15972 Q75N87

Post-translational modifications:

Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the

microfibrils¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000129.3

ENSEMBL proteins:

ENSP00000373739 ENSP00000325527

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	HuPro® and/or Recombinant Proteins from Abnova for FBN1
	Browse Origene full length recombinant human proteins expressed in human HEK293 cells
	Novus Biologicals Protein for FBN1
	Browse Sino Biological Recombinant Proteins

5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001527	microfibril	IDA	1860873 3536967
GO:0005576	extracellular region	EXP	12807887
GO:0005578	proteinaceous extracellular matrix	IDA	3536967
GO:0005604	basement membrane	IDA	3536967
GO:0005615	extracellular space	IDA	3536967

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FBN1 for ontologies About GeneDecksing

Antibodies for FBN1:

	Millipore Mono- and Polyclonal Antibodies for the study of FBN1
	Sigma-Aldrich Antibodies for FBN1
	Browse R&D Systems for Antibodies
	Monoclonal and Polyclonal Antibodies from Abnova (FBN1)
	Browse Origene Antibodies
	Novus Biologicals Antibodies for FBN1
	Browse antibodies at Epitomics

Assays for FBN1:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Browse Enzo Life Sciences for kits & assays

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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FBN1 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12 ):

IPR017878 TFG_b-bd

IPR000742 EGF_3

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca_bd_CS

IPR006210 EGF-like

Graphical View of Domain Structure for InterPro Entry P35555

ProtoNet protein and cluster: P35555

4 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001438 Type II EGF-like signature

IPB001881 EGF-like calcium-binding

IPB002212 Matrix fibril-associated

UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555

Similarity: Belongs to the fibrillin family

Similarity: Contains 47 EGF-like domains

Similarity: Contains 9 TB (TGF-beta binding) domains

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FBN1)
		Origene 29mer shRNA kits in GFP-retroviral vector: FBN1 Origene shRNA RFP: FBN1 Origene basic RS shRNA: FBN1
		Applied Biosystems Silencer® siRNAs for FBN1
		Sigma-Aldrich siRNA Panels and esiRNA and siRNA for FBN1 Sigma-Aldrich shRNA Panels and shRNA for FBN1 Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector: FBN1 Origene Myc/DDK tagged cDNA clones in CMV expression vector: FBN1 Origene untagged cDNA clones in CMV expression vector: FBN1
		Browse Sino Biological Human cDNA Clones

UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555

Function: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur

either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term

force bearing structural support

Genatlas biochemistry entry for FBN1:

fibrillin 1,major constituent of extracellular matrix,colocalizing with FBNL2 in skin,perichondrium,10nm

microfibrils,synthetized as profibrillin-1,furin mediated,involved in the maintenance of elastic fibers and anchoring

epithelial cells to the interstitial matrix

5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	TAS	10931876
GO:0005488	binding	--	--
GO:0005509	calcium ion binding	TAS	8188302
GO:0005515	protein binding	IPI	15165854
GO:0008061	chitin binding	--	--

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FBN1 for ontologies About GeneDecksing

Animal Models: 15/20 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Fbn1) (see all 20 ):

behavior/neurological	cardiovascular system	cellular	craniofacial	growth/size
hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal	lethality-prenatal/perinatal
life span-post-weaning/aging	limbs/digits/tail	muscle	other	pigmentation

FBN1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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FBN1 for pathways About GeneDecksing

5/13 GeneAssist Pathways for FBN1 (see all 13 )

	FAK1 Signaling
	Inhibition of Angiogenesis by TSP1
	Phospholipase-C Pathway
	Molecular Mechanisms of Cancer
	PI3K Signaling

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FBN1

1 Interacting protein for FBN1 (P35555²) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
--	Q9WMX2²	MINT-7048165

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4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IMP	8188302
GO:0001822	kidney development	IEA	--
GO:0006030	chitin metabolic process	--	--
GO:0007507	heart development	IMP	15781745

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FBN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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FBN1 for compounds About GeneDecksing

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FBN1
10/68 Novoseek chemical compound relationships for FBN1 gene (see all 68 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cysteine	10.10	34	10993712 (5), 15161917 (3), 19889633 (2), 17679947 (2) (see all 23)
tgm 2	4.14	2	19182256 (2)
homocysteine	4.05	15	16096271 (3), 15713466 (3), 19889633 (2), 10993712 (2) (see all 9)
sparc	3.93	4	18505769 (1), 17962449 (1), 13130478 (1), 12628048 (1)
tgf beta1	3.26	4	17242066 (3), 11673307 (1)
km 13	3.11	1	11549841 (1)
rsai	2.29	2	7987336 (1), 7915876 (1)
desmosine	2.29	2	19321153 (1), 18326798 (1)
taad	2.19	1	16646045 (1)
heparan sulfate	2.02	6	11461921 (4), 18669635 (1), 15980072 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FBN1)
		Applied Biosystems Silencer® siRNAs: NM_000138
		Origene 29mer shRNA kits in GFP-retroviral vector: FBN1 Origene shRNA RFP: FBN1 Origene basic RS shRNA: FBN1
		Sigma-Aldrich siRNA Panels and esiRNA and siRNA for FBN1 Sigma-Aldrich shRNA Panels and shRNA for FBN1 Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:		10/20 SABiosciences microRNAs that regulate FBN1 (see all 20 ):
		hsa-miR-323-3p hsa-miR-148b hsa-miR-496 hsa-miR-29c hsa-miR-29a hsa-miR-25 hsa-miR-380* hsa-miR-144 hsa-miR-9 hsa-miR-542-3p

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_000138

Clones:

Origene GFP tagged cDNA clones in CMV expression vector: FBN1
Origene Myc/DDK tagged cDNA clones in CMV expression vector: FBN1
Origene untagged cDNA clones in CMV expression vector: FBN1

Primers:		Origene genome-wide validated SYBR primer pairs: FBN1
		SABiosciences RT2 qPCR Primer Assay for FBN1: PPH06948A

REFSEQ mRNAs for FBN1 gene:

NM_000138.4

Additional cDNA sequence:

AB208840.1 AK304737.1 AK309616.1 BC146854.1 L13923.1 X62008.1 X63556.1

12 DOTS entries:

DT.447492 DT.101973455 DT.100793642 DT.101982464 DT.40124464 DT.308186 DT.92432160 DT.100793634

DT.91976414 DT.95123409 DT.95369602 DT.97787434

24/327 AceView cDNA sequences (see all 327 ):

BM740040 C01913 BM760920 BU628079 BM740268 AI891007 AA010361 X63556

AW006050 AL602678 BE466598 AI264196 CA414303 L13923 BM757920 BM842117

BM759211 T28258 BM739990 BQ005726 BM784087 BM771804 BM678204 BQ669161

highest scoring ESTs for FBN1:

X63556 AA227996 AA228068 AI081314 AI168430 AI298795 AI458628 AI800885 AI951601 AW292650

Unigene Cluster for FBN1:

Fibrillin 1

Hs.591133 [show with all ESTs]

Unigene Representative Sequence: NM_000138

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000389087 ENST00000316623

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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FBN1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FBN1

¹ / ² / ³

8 probe-sets matching FBN1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32535_at²^{, 3}	U95-A	1	0.94	1.00	0.94	1.21	X63556	1.00	1.00	1.00	1
63635_at²^{, 3}	U95-C	1	0.75	1.00	0.85	0.79	AI745614	0.40	1.00	0.76	1
202765_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI264196	0.60	1.00	0.82	1
235318_at²^{, 3}	U133-B	1	0.82	1.00	--	--	AW955612	0.20	1.00	0.72	1
202766_s_at²^{, 3}	U133-A	1	0.64	1.00	--	--	NM_000138	0.60	1.00	0.82	1
202765_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
235318_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--
202766_s_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--

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FBN1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: TGCAATATGC

SOURCE GeneReport for Unigene cluster: Hs.591133

Expression variation in blood from EXPOLDB for FBN1

Primers:		Origene genome-wide validated SYBR primer pairs: FBN1
		SABiosciences RT2 qPCR Primer Assay for FBN1: PPH06948A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for FBN1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FBN1¹	--	fibrillin 1	91.79(n) 96.97(a)	478293 XM_856699.1 XP_861792.1
chimpanzee (Pan troglodytes)	FBN1¹	--	fibrillin 1	99.69(n) 99.9(a)	453411 XM_001149266.1 XP_001149266.1
cow (Bos taurus)	FBN1¹	--	fibrillin 1	92.8(n) 97.81(a)	281154 NM_174053.1 NP_776478.1
rat (Rattus norvegicus)	Fbn1¹	--	fibrillin 1	88.57(n) 95.99(a)	83727 NM_031825.1 NP_114013.1
mouse (Mus musculus)	Fbn1^{1, 5}	2 (71.00 cM)⁵	fibrillin 1^{1, 5}	88.87(n)¹ 96.27(a)¹	14118¹ NM_007993.2¹ NP_032019.2¹ AF007248⁵ AI536462⁵ (see all 15)

About this table Species with no ortholog for FBN1

ENSEMBL Gene Tree for FBN1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for FBN1 gene

LTBP3² EGFL6² FBN2² FBLN5² FBN3² LTBP4² EFEMP1² LTBP1²

LTBP2² FBLN2² NPNT² SCUBE3² EFEMP2² SCUBE1² VWCE² FBLN1²

SCUBE2²

FBN1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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10/1737 NCBI SNPs in FBN1 are shown (see all 1737 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 521)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--			--
	rs7177445^1,2	C,F,A,H	48702457(+)	`GTCACA/CGAAAT`	1	--	ut3¹ ese³		9	MN NA NS EA	746
	rs11070641^1,2	C,F,A,H	48701029(+)	`TTTTCT/CCCTGT`	1	--	ut3¹		12	NA NS EA WA	770
--	rs4775760^1,2	C,F,A,H	48701612(+)	`CGCCCC/ACCACC`	1	--	ut3¹		7	NA EA WA	218
	rs1042078^1,2	C,F,A,H	48702873(-)	`ACGTAT/CGGGAA`	1	--	ut3¹ ese³		30	EA MN NA NS WA	4812
	rs2899417^1,2	C,F,O,H	25532499(+)	`GCCCTC/TTTCTA`	1	--	ng3¹		14	NS EA NA	804
--	rs4775768^1,2	C,F,A,H	25771571(+)	`AGGGCA/GGAAAT`	1	--	ng5¹ tfbs³		6	NA EA WA	218
--	rs25458^1,2	C,F,O,H	48797307(-)	`ATGAAA/C/G/T GGGCG`	4	K N	mis¹ syn¹ ref¹		14	MN NS EA NA	1038
--	rs13598^1,2	C,F,O	48702457(-)	`ATTTCT/GGTGAC`	1	--	ut3¹		11	MN NS EA NA WA	824
	rs6493334^1,2	C,F,A	25771238(+)	`GTTGTA/TATGGT`	1	--	ng5¹		14	NS EA NA WA	1056
	rs4775765^1,2	C,A,H	48807637(+)	`ACCGGT/CAACTC`	2	/Y /C	mis¹ ref¹ ese³		8	NS EA NA	420

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HapMap Linkage Disequilibrium images for FBN1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for FBN1
3 CNVs: 10484 87683 5781

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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FBN1 for disorders About GeneDecksing

OMIM: 134797

UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555

Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:154700]. MFS is an autosomal dominant disorder that

affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS,

including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about

80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is

progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. The majority

of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site

mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini

Defects in FBN1 are a cause of isolated ectopia lentis (EL) [MIM:129600]. The symptoms of this autosomal

dominant fibrillinopathy overlap with those of Marfan syndrome, with the exclusion of the skeletal and cardiovascular

manifestations

Defects in FBN1 are the cause of Weill-Marchesani syndrome autosomal dominant (ADWMS) [MIM:608328]. A rare

connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities

including microspherophakia, ectopia lentis, severe myopia and glaucoma

Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]. SGS is a very

rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features,

skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities

Defects in FBN1 are a cause of MASS syndrome [MIM:604308]. MASS syndrome is a heritable disorder of connective

tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely

resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal

changes occur in the aorta, and the mitral valve prolapse is by no means invariable

10/197 Novoseek disease relationships for FBN1 gene (see all 197 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
marfan syndrome	100.00	568	11700157 (6), 18795226 (5), 16476890 (5), 12579488 (5) (see all 100)
ectopia lentis	83.51	35	15054843 (4), 17679947 (3), 16476890 (3), 12446365 (3) (see all 20)
connective tissue disease	73.21	54	10464652 (2), 9887276 (1), 9876915 (1), 9401003 (1) (see all 53)
sclerosis; systemic	42.79	51	12384286 (7), 11083269 (6), 16277674 (5), 11315929 (5) (see all 23)
congenital contractural arachnodactyly	41.44	18	17345643 (3), 11754102 (2), 9714438 (1), 8307578 (1) (see all 15)
ectopia lentis, isolated	24.61	8	16765689 (3), 9401003 (1), 20082464 (1), 18615205 (1) (see all 6)
shprintzen-goldberg syndrome	21.40	8	8563763 (3), 9401003 (1), 9338588 (1), 9255212 (1) (see all 6)
heritable connective tissue disorder	19.48	8	9016526 (1), 8894692 (1), 8750301 (1), 8594563 (1) (see all 8)
weill-marchesani syndrome	14.44	7	19396027 (2), 12525539 (2), 8914744 (1), 19836009 (1) (see all 5)
aortic valve bicuspid	12.19	10	17785109 (5), 14502156 (4), 19035121 (1)

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GeneTests: FBN1

Marfan Syndrome

Locus Specific Mutation Databases: FBN1
Human Gene Mutation Database: FBN1
Genetic Association Database: FBN1
Human Genome Epidemiology Navigator: FBN1 (32 documents)

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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/479 PubMed articles for FBN1 gene (see all 479 ):

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. (PubMed id 11700157)^{1, 3, 4, 6} Loeys B.... De Paepe A. (2001)
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. (PubMed id 12525539)^{1, 2, 3, 4} Faivre L....Cormier-Daire V. (2003)
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. (PubMed id 8882780)^{3, 4, 6} Putnam E.A....Milewicz D.M. (1996)
Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. (PubMed id 12384286)^{1, 3, 6} Kodera T....Bona C.A. (2002)
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. (PubMed id 15241795)^{1, 3, 6} Loeys B....De Paepe A. (2004)
Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. (PubMed id 12918850)^{1, 3, 6} Chou H.T....Tsai F.J. (2003)
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. (PubMed id 16220557)^{1, 3, 4} Rommel K.... Arslan-Kirchner M. (2005)
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. (PubMed id 11826022)^{1, 3, 4} Koerkkoe J.... Ala-Kokko L. (2002)
Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. (PubMed id 15221638)^{1, 3, 4} Uyeda T.... Ito E. (2004)
TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies. (PubMed id 12203992)^{1, 3, 4} Katzke S.... Robinson P.N. (2002)

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		AND	OR
Aliases
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Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2200	HGNC: 3603	AceView: FBN1	Ensembl:ENSG00000166147	euGenes: HUgn2200
ECgene: FBN1	H-InvDB: FBN1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
FBN1	http://www.umd.necker.fr/Site%20Marfan/04Fibrillin.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBN1

Intellectual Property for FBN1 gene
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Patent Information for FBN1 gene:

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Products for FBN1:

TaqMan ® Gene Expression Assays

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GeneCards Homepage - Last full update: 21 May 2010 - Incremental updates: 24 May 2010 , 20 Jun 2010

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Category			ACSF3 acyl-CoA synthetase family member 3
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cardiovascular abnormalities
col2a1
calcinosis
thyroid cancer
exfoliation syndrome
chronic viral hepatitis
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osteosarcoma
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ocular defect
incisional hernia
herniation
damage; vascular
stiff skin syndrome
protrusio acetabuli
degeneration; aortic
cbs deficiency
dolichocephaly
premature termination mutation
mitral regurgitation
tracheobronchomalacia
mitochondrial myopathies
contracture flexion
pneumothorax spontaneous
CAD
bullous keratopathy
failure respiratory
disease; systemic, connective tissue
soto syndrome
dilatations
lens subluxation
interstitial fibrosis
chronic lung disease
periodontitis
stress urinary incontinence
chronic actinic dermatitis
vascular disease
lupus erythematosus systemic
inflammatory response
linear scleroderma
nephritis
ectopic pregnancies
shprintzen-goldberg syndrome
heritable connective tissue disorder
hypertrophic scar
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PDA
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endocarditis
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aortic root dilation
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breast cancer
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congenital disorder
limited cutaneous systemic sclerosis
fbn1, gly1127ser
diabetic nephropathies
short stature
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glaucoma secondary
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idiopathic portal hypertension
disease complication
cervical incompetence
calcification
charge syndrome
congenital contractural arachnodactyly
artery dissection
interstitial lung disease
cystic dilatation
skeletal malformation
follicular carcinoma
corneal edema
hypertension portal
complications; vascular
aneurysm aortic
homocystinuria
marfan syndrome, type ii
nephropathies
autoimmune response
tubulointerstitial nephritis
choledochal cyst
mitochondrial disease
glomerulonephritis
genetic disorder
craniosynostosis
chiari malformation type i
loeys-dietz syndrome
ectopia lentis, isolated
hot spots
arterial calcification
EL
mitral (valve) prolapse

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FBN1 Gene

protein-coding GIFtS: 63

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