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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FBN1 Gene

protein-coding GIFtS: 65
GCID: GC15M048700

fibrillin 1

(Previous name: fibrillin 1 (Marfan syndrome) )
(Previous symbols: FBN, MFS1, WMS)

Explore 120 diseases affiliated with
FBN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fibrillin 1¹ ²		Fibrillin 1 (Marfan Syndrome)¹
FBN¹ ² ³		ACMICD²
MFS1¹ ² ⁵		ECTOL1²
WMS¹ ² ⁵		GPHYSD2²
MASS¹ ²		WMS2²
OCTD¹ ²		Fibrillin 15²
SGS¹ ²		Fibrillin-1¹
SSKS² ⁵

External Ids:	HGNC: 3603¹	Entrez Gene: 2200²	Ensembl: ENSG00000166147⁷	OMIM: 134797⁵	UniProtKB: P35555³

Export aliases for FBN1 gene to outside databases

Previous GC identifers: GC15M044259 GC15M041748 GC15M046281 GC15M046418 GC15M046489 GC15M025532

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, Jul 2008)

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. Regulates osteoblast maturation by controlling TGF-beta bioavailability and

calibrating TGF-beta and BMP levels, respectively

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 (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FBN1 gene promoter:
STAT1 p300 STAT1beta AP-2gamma C/EBPalpha STAT1alpha AP-2beta MRF-2 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FBN1 promoter sequence

Search SABiosciences Chromatin IP Primers for FBN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBN1

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)
FBN1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

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

Start:	48,700,503 bp from pter	End:	48,938,046 bp from pter
Size:	237,544 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FBN1_HUMAN, P35555 (See protein sequence)

Recommended Name: Fibrillin-1 precursor

Size: 2871 amino acids; 312237 Da

Subunit: Interacts with COL16A1. Interacts with integrin alpha-V/beta-3. Interacts with ADAMTSL4. Interacts with

ADAMTS10; this interaction promotes microfibrils assembly. Interacts with THSD4; this interaction promotes fibril

formation (By similarity)

Subcellular location: Secreted, extracellular space, extracellular matrix

Sequence caution: Sequence=CAA45118.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6/9 PDB 3D structures from and Proteopedia for FBN1 (see all 9):

1APJ (3D)

1EMN (3D)

1EMO (3D)

1LMJ (3D)

1UZJ (3D)

1UZK (3D)

Secondary accessions: B2RUU0 D2JYH6 Q15972 Q75N87

Explore the universe of human proteins at neXtProt for FBN1: NX_P35555

Post-translational modifications:

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

microfibrils¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35555

FBN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000129.3

ENSEMBL proteins:

ENSP00000325527 ENSP00000453958 ENSP00000440294 ENSP00000453901

Reactome Protein details: P35555
Human Recombinant Protein Products:

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	Uscn Proteins for FBN1

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

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

FBN1 for ontologies About GeneDecksing

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	Uscn Antibodies for FBN1
	ThermoFisher Antibodies for FBN1

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	GenScript Custom Assay Services for FBN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FBN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FBN1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR017878 TB_dom

IPR000742 EG-like_dom

IPR026823 cEGF

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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. Regulates osteoblast maturation by controlling TGF-beta bioavailability and

calibrating TGF-beta and BMP levels, respectively

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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FBN1
		8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate FBN1 (see all 82):
		hsa-miR-140-5p hsa-miR-520f hsa-miR-1245 hsa-miR-4293 hsa-miR-192* hsa-miR-2113 hsa-miR-92b hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: FBN1 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	IDA	3536967
GO:0005509	calcium ion binding	IDA	7691719
GO:0005515	protein binding	IPI	19570982

FBN1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for FBN1: Fbn1^tm3Rmz Fbn1^tm2Rmz Fbn1^tm1Rmz
     15/23 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Fbn1) (see all 23):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	mortality/aging	muscle

FBN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Tropoelastin associates with microfibrils

	Tropoelastin associates with microfibrils	1.00			Fibrillin microfibril assembly	0.50
	Elastin cross-linking by lysyl oxidase	0.55

Elastic fibre formation

Elastic fibre formation

1.00

Molecules associated with elastic fibres

0.84

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FBN1 (see all 13)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

5/8 Reactome Pathways for FBN1 (see all 8)

	Molecules associated with elastic fibres
	Extracellular matrix organization
	Integrin cell surface interactions
	Elastic fibre formation
	Fibrillin microfibril assembly

FBN1 for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/26 Interacting proteins for FBN1 (P35555^{1, 2, 3} ENSP00000325527⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SPRY2	O43597²^,³, ENSP00000366306⁴	MINT-8272017 I2D: score=2 STRING: ENSP00000366306
FBLN2	P98095³, ENSP00000384169⁴	I2D: score=2 STRING: ENSP00000384169
MFAP2	P55001³, ENSP00000364685⁴	I2D: score=2 STRING: ENSP00000364685
RHOB	P62745³, ENSP00000272233⁴	I2D: score=2 STRING: ENSP00000272233
VCAN	P13611³, ENSP00000265077⁴	I2D: score=2 STRING: ENSP00000265077

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IMP	8188302
GO:0007507	heart development	IMP	15781745
GO:0035582	sequestering of BMP in extracellular matrix	ISS	--
GO:0035583	sequestering of TGFbeta in extracellular matrix	ISS	--

FBN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FBN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FBN1

1 HMDB Compound for FBN1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

10/35 Novoseek chemical compound relationships for FBN1 gene (see all 35) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
taad	79.3	2	16646045 (1), 18544034 (1)
desmosine	74.4	2	11201188 (1), 18326798 (1)
cysteine	50.8	47	10993712 (5), 15161917 (3), 10636927 (3), 1860873 (2) (see all 25)
orcein	48.4	3	1689758 (2)
calcium	30.7	94	9054436 (6), 8995426 (5), 10024441 (5), 7896820 (4) (see all 42)
chondroitin sulfate	22.6	2	15980072 (1), 1479602 (1)
heparan sulfate	17.8	5	11461921 (3), 15980072 (1), 18669635 (1)
rsai	16.3	2	7987336 (1), 7915876 (1)
homocysteine	16.2	16	15713466 (3), 16096271 (3), 10993712 (2), 19889633 (2) (see all 9)
tgf beta1	13.7	4	17242066 (3), 11673307 (1)

Search CenterWatch for drugs/clinical trials and news about FBN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FBN1 gene:

NM_000138.4

Unigene Cluster for FBN1:

Fibrillin 1

Hs.591133 [show with all ESTs]

Unigene Representative Sequence: NM_000138

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000316623(uc010beo.2 uc001zwx.2) ENST00000559133 ENST00000561429

ENST00000560720 ENST00000537463 ENST00000560820 ENST00000560355 ENST00000558230

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		hsa-miR-140-5p hsa-miR-520f hsa-miR-1245 hsa-miR-4293 hsa-miR-192* hsa-miR-2113 hsa-miR-92b hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: FBN1 3' UTR sequence

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Additional cDNA sequence:

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

11 DOTS entries:

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

DT.91976414 DT.95369602 DT.97787434

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

BM759211 BM842117 AI264196 L13923 BM739990 BM757920 BM754195 CA414303

AU280389 AI092375 AU119886 BM754166 BP372093 BM771293 BM760158 BM697811

CF552247 T28258 BM740040 AW293318 BM760920 BM739253 BP341368 C01913

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FBN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCAATATGC

About this image

FBN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Testis

Kidney

Kidney

Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Posterior foregut-like cells (A scalable, suspensi...)

See FBN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBN1

SOURCE GeneReport for Unigene cluster: Hs.591133

SABiosciences Custom PCR Arrays for FBN1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FBN1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FBN1 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FBN1¹	fibrillin 1	79.85(n) 87.19(a)		373992 XM_413815.3 XP_413815.3
lizard (Anolis carolinensis)	Reptilia	FBN1⁶	--	84(a)	1 ↔ 1	GL343806.1(58645-175962)
African clawed frog (Xenopus laevis)	Amphibia	Xl.15872²	Xenopus laevis transcribed sequence with moderate similarity to protein spP35556 (H.sapiens) FBN2_HUMAN Fibrillin 2 precursor less	75.43(n)		BJ058705.1
zebrafish (Danio rerio)	Actinopterygii	CABZ01074749.1⁶ fbn1⁶	fibrillin 1	73(a) 67(a)	1 ↔ many 1 ↔ many	18(4745331-4769470) 18(4739542-4742405)
honey bee (Apis mellifera)	Insecta	--	--	46(a)	1 → many	Group11.11(1820186-1842970)

ENSEMBL Gene Tree for FBN1 (if available)
TreeFam Gene Tree for FBN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FBN1 gene

LTBP3² SCUBE3² FBN3² FBLN5² FBN2² LTBP4² EFEMP1² EFEMP2²

SCUBE1² LTBP2² LTBP1² FBLN2² FBLN1² SCUBE2²

10 SIMAP similar genes for FBN1 using alignment to 8 protein entries: FBN1_HUMAN (see all proteins):

PP187 FBN2 FBN3 PROS1 F9 HMCN1

EMR2 EFEMP1 EFEMP2 MBP1

FBN1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for FBN1
PGOHUM00000234127

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140637^1,2	C,F,H,	non-pathogenic	76782849(-)	`CTCATT/CTTTCC`	1	--	int¹		12		MN NS EA NA WA	1508
rs363847^1,2	C,F,	non-pathogenic	76846321(-)	`AGTACT/CCCACT`	2	/T	syn¹ ese³		5		MN NS NA EU	7143
rs137854467^1,2	C	pathogenic	76657552(-)	`ATATTC/TGCTGT`	2	R C	mis¹		0	--	--	--	--
rs137854480^1,2	C	pathogenic	76719867(-)	`ATATCC/TGCACG`	2	R C	mis¹		0	--	--	--	--
rs137854462^1,2	C	pathogenic	76747396(-)	`CATCAA/TCACAG`	2	N I	mis¹		0	--	--	--	--
rs140593^1,2	C,F,H	pathogenic	76767611(-)	`GACCCA/C/GGATTT`	3	R G	mis¹ ese³		12		MN NS EA NA	2338
rs137854468^1,2	C	pathogenic	76770110(-)	`GAGGTA/GGTGTT`	2	S G	mis¹		0	--	--	--	--
rs137854456^1,2	C	pathogenic	76770141(-)	`TTACCA/C/GCTGTG`	3	H P R	mis¹		1		NA	4552
rs137854475^1,2	C,F,	pathogenic	76770351(-)	`TGGCCG/ATTGCG`	2	/H /R	mis¹		2		NA EU	5873
rs111401431^1,2	C,F	pathogenic	76789409(-)	`ATACCC/TGCTCT`	2	R C	mis¹		1		NS	1038

HapMap Linkage Disequilibrium report for FBN1 (48700503 - 48938046 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for FBN1
3 CNVs: 10484 87683 5781
Human Gene Mutation Database (HGMD): FBN1

Locus Specific Mutation Databases (LSDB): FBN1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBN1

DNA2.0 Custom Variant and Variant Library Synthesis for FBN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FBN1 for disorders           About GeneDecksing

OMIM gene information: 134797
OMIM disorders: 154700  182212  129600  604308  608328  184900
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. Note=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 ectopia lentis, isolated, autosomal dominant (ECTOL1) [MIM:129600]. An ocular

abnormality characterized by partial or complete displacement of the lens from its space resulting from defective

zonule formation

Defects in FBN1 are the cause of Weill-Marchesani syndrome 2 (WMS2) [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 overlap connective tissue disease (OCTD) [MIM:604308]. 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

Defects in FBN1 are a cause of stiff skin syndrome (SSKS) [MIM:184900]. It is a syndrome characterized by

hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other

occasional findings include lipodystrophy and muscle weakness

Defects in FBN1 are the cause of geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]. An autosomal dominant

disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening.

Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral

bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened

nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive

cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory

insufficiency, and lysosomal-like storage vacuoles in various tissues

Defects in FBN1 are the cause of acromicric dysplasia (ACMICD) [MIM:102370]. An autosomal dominant disorder

characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic

features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.

Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes,

bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other

characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as

well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of

the fifth metacarpal

20/120 diseases for FBN1 (see all 120): About MalaCards

ectopia lentis weill-marchesani syndrome marfan syndrome weill-marchesani syndrome, dominant

ectopia lentis, isolated ectopia lentis, familial craniosynostosis, syndromic aortic aneurysm, ascending, and dissection

mass syndrome shprintzen-goldberg syndrome craniosynostosis open-angle glaucoma

aortic aneurysm mitral valve prolapse lens subluxation ehlers-danlos syndrome

thoracic aortic aneurysm recessive dystrophic epidermolysis bullosa connective tissue disease contractural arachnodactyly

12 diseases from the University of Copenhagen DISEASES database for FBN1:

Marfan syndrome Weill-Marchesani syndrome Loeys-Dietz syndrome Mitral valve prolapse

Connective tissue disease Aortic aneurysm Rheumatic disease Aortic disease

Lens subluxation Homocystinuria Cutis laxa Glaucoma

10/82 Novoseek disease relationships for FBN1 gene (see all 82) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
marfan syndrome	97.8	577	9430549 (5), 16476890 (5), 8804362 (4), 1479602 (4) (see all 99)
ectopia lentis	94.5	34	16476890 (3), 15054843 (2), 20021881 (2), 7802039 (2) (see all 22)
arachnodactyly	93.2	20	17345643 (2), 7870075 (2), 8307578 (1), 12144083 (1) (see all 13)
ectopia lentis, isolated	90.3	8	16765689 (3), 18615205 (1), 14718307 (1), 10633129 (1) (see all 5)
heritable connective tissue disorder	87.8	10	8750301 (1), 8594563 (1), 8894692 (1), 9016526 (1) (see all 7)
connective tissue diseases	85.7	65	10464652 (2), 7860770 (1), 7622614 (1), 8541880 (1) (see all 50)
aortic aneurysm thoracic	67.5	9	8941093 (4), 9723636 (1), 10670197 (1), 11826022 (1) (see all 5)
solar elastosis	67.3	4	1689758 (1), 10417681 (1), 8040608 (1), 8881336 (1)
aortic dissection	66.8	6	20082464 (2), 15678071 (1), 16181034 (1), 18353575 (1) (see all 5)
mitral valve prolapse	66.1	6	19199346 (1), 14759433 (1), 20189150 (1), 9837823 (1) (see all 5)

GeneTests: FBN1

Marfan Syndrome

Genetic Association Database (GAD): FBN1
Human Genome Epidemiology (HuGE) Navigator: FBN1 (41 documents)

Export disorders for FBN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FBN1 gene, integrated from 9 sources (see all 659):
(articles sorted by number of sources associating them with FBN1)

Utopia: connect your pdf to the dynamic
world of online information

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, 2, 4, 9} Loeys B.... De Paepe A. (2001)
In frame fibrillin-1 gene deletion in autosomal dominant Weill- Marchesani syndrome. (PubMed id 12525539)^{1, 2, 3} 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)^{1, 2, 4} Putnam E.A....Milewicz D.M. (1996)
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. (PubMed id 7738200)^{1, 2, 9} Milewicz D.M....Jewett T. (1995)
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. (PubMed id 1301946)^{1, 2, 9} Dietz H.C.... Francomano C.A. (1992)
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, 2, 9} Rommel K.... Arslan-Kirchner M. (2005)
Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. (PubMed id 12918850)^{1, 4, 9} Chou H.T....Tsai F.J. (2003)
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. (PubMed id 11826022)^{1, 2, 9} Koerkkoe J.... Ala-Kokko L. (2002)
Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. (PubMed id 12384286)^{1, 4, 9} Kodera T....Bona C.A. (2002)
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. (PubMed id 15161917)^{1, 2, 9} Vollbrandt T.... Reinhardt D.P. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FBN1	Pharmacogenomics, SNPs, Pathways
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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GeneCards and IP:
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FBN1 Gene

fibrillin 1

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Congenital Disorders
Spondylitis Ankylosing
Scoliosis idiopathic
Scars Hypertrophic
Aortic Aneurysm Thoracic
heritable connective tissue disorder
Cutis Laxa
dysplasia
Dermatitis Herpetiformis
Aneurysm Dissecting
Solar elastosis
Primary pulmonary hypertension
Atherosclerosis
Edema
Hypercholesterolemia
Cancer
Aortic Stenosis Supravalvular
Ehlers-Danlos Syndrome
Myopia
Diabetes Mellitus Insulin-Dependent
Aneurysm
MASS PHENOTYPE
Arachnodactyly
Death Sudden
ADPKD
Inflammation
Ectopia Lentis
SHORT STATURE
Williams Syndrome
Hyperhomocysteinemia
Pseudoxanthoma Elasticum
BICUSPID AORTIC VALVE
Tumors
Cardiovascular Diseases
Mental Retardation
Necrosis
Autoimmunity
Lichen Planus
Collagen fibril
Marfan Syndrome
Coronary Heart Disease
progressive disease
Telangiectasia
glaucoma
Aortic Rupture
distention
Monosomy
Lens Dislocation
AORTIC DISSECTION
Carcinoma
Cardiovascular Abnormalities
Calcinosis
Mixed Connective Tissue Disease
Cattle Diseases
Other connective tissue disease
Osteosarcoma
Dermatomyositis
HEPATOCELLULAR CARCINOMA
Calcification
Connective Tissue Diseases
Mitral Regurgitation
HEART FAILURE
Epidermolysis Bullosa Dystrophic
Coronary Artery Disease
Aortic Aneurysm Abdominal
Scar
Mitral Valve Prolapse
Homocystinuria
Histopathology
Aortic Diseases
Autoimmune Response
Bullous keratopathy
Hemophilia B
Lens Subluxation
genetic disorder
Pseudoexfoliation Syndrome
Sclerosis Systemic
ECTOPIA LENTIS, ISOLATED
Dilated Cardiomyopathy
Lupus Erythematosus Systemic
Skin fibrosis
Arthritis

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FBN1 Gene

fibrillin 1

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