Free for academic non-profit institutions. Other users need a Commercial license

FBN3 Gene(Protein Coding)

Fibrillin 3

GCID:
GC19M008065
GIFtS:
55
Genes Participants
UDN Logo

Aliases for FBN3 Gene

Aliases for FBN3 Gene

  • Fibrillin 3 2 3 5
  • Fibrillin-3 3
  • KIAA1776 4

External Ids for FBN3 Gene

Previous GeneCards Identifiers for FBN3 Gene

  • GC00U991241
  • GC19M008235
  • GC19M008025
  • GC19M008036
  • GC19M007802
  • GC19M008130

Summaries for FBN3 Gene

Entrez Gene Summary for FBN3 Gene

  • This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]

GeneCards Summary for FBN3 Gene

FBN3 (Fibrillin 3) is a Protein Coding gene. Diseases associated with FBN3 include Weill-Marchesani Syndrome and Weill-Marchesani Syndrome 1, Recessive. Among its related pathways are Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is FBN2.

UniProtKB/Swiss-Prot for FBN3 Gene

  • Fibrillin-3: 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-containing microfibrils provide long-term force bearing structural support.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBN3 Gene

Genomics for FBN3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for FBN3 Gene

Enhancers for FBN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G008148 1.2 Ensembl ENCODE 44.6 +0.6 553 2.2 FOXA2 ARNT ARID4B ZNF121 GLIS2 ZNF263 SP3 SP5 ZNF662 ZNF623 FBN3 GC19M008115
GH19G008154 1.2 Ensembl ENCODE 21.1 -5.2 -5214 1.2 ATF1 MLX ARID4B DMAP1 ZNF48 ZNF121 ZNF263 SP5 ZHX2 KAT8 FBN3 GC19P008154 LOC100422633
GH19G008113 0.8 ENCODE 20 +36.6 36555 0.2 ZBTB21 CEBPG E2F1 SCRT2 FOS ZNF600 PRDM10 RFX1 ZNF10 CEBPB FBN3 GC19M008113 GC19M008058
GH19G008192 1.6 Ensembl ENCODE dbSUPER 8.1 -44.1 -44100 3.9 HDGF FOXA2 PKNOX1 MLX WRNIP1 ARID4B DMAP1 SLC30A9 ZNF143 ZNF207 CERS4 FBN3 ZNF317 LOC100422633
GH19G008158 1.2 Ensembl ENCODE 9.4 -8.8 -8756 0.4 HDGF ARNT SIN3A ARID4B ZNF2 ZNF48 ZBTB7B CBX5 ZNF143 ZNF207 FBN3 GC19P008154 LOC100422633
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBN3 on UCSC Golden Path with GeneCards custom track

Promoters for FBN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106776 346 601 KLF1 ZNF777 ZMYM3 RAD21 ZNF366 HNF4G PRDM10 ZBTB20 EZH2 ZNF263

Transcription factor binding sites by QIAGEN in the FBN3 gene promoter:

Genomic Location for FBN3 Gene

Chromosome:
19
Start:
8,065,402 bp from pter
End:
8,149,846 bp from pter
Size:
84,445 bases
Orientation:
Minus strand

Genomic View for FBN3 Gene

Genes around FBN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBN3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FBN3 Gene

Proteins for FBN3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FBN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q75N90-FBN3_HUMAN
    Recommended name:
    Fibrillin-3
    Protein Accession:
    Q75N90
    Secondary Accessions:
    • Q75N91
    • Q75N92
    • Q75N93
    • Q86SJ5
    • Q96JP8

    Protein attributes for FBN3 Gene

    Size:
    2809 amino acids
    Molecular mass:
    300356 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47408.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for FBN3 Gene

Protein Expression for FBN3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FBN3 Gene

  • Probably forms intermolecular disulfide bonds either with other FBN3 molecules or with other components of the microfibrils.
  • Glycosylation at isoforms=406, Asn1025, Asn1442, isoforms=1538, Asn1627, Asn1658, Asn1668, Asn1858, Asn2033, and Asn2713
  • Modification sites at PhosphoSitePlus

Other Protein References for FBN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FBN3 Gene

Domains & Families for FBN3 Gene

Protein Domains for FBN3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FBN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q75N90

UniProtKB/Swiss-Prot:

FBN3_HUMAN :
  • Belongs to the fibrillin family.
Family:
  • Belongs to the fibrillin family.
genes like me logo Genes that share domains with FBN3: view

No data available for Gene Families for FBN3 Gene

Function for FBN3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for FBN3 Gene

UniProtKB/Swiss-Prot Function:
Fibrillin-3: 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-containing microfibrils provide long-term force bearing structural support.

Gene Ontology (GO) - Molecular Function for FBN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with FBN3: view
genes like me logo Genes that share phenotypes with FBN3: view

Animal Model Products

miRNA for FBN3 Gene

miRTarBase miRNAs that target FBN3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBN3 Gene

Localization for FBN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBN3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBN3 gene
Compartment Confidence
extracellular 5
plasma membrane 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FBN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IBA --
genes like me logo Genes that share ontologies with FBN3: view

Pathways & Interactions for FBN3 Gene

genes like me logo Genes that share pathways with FBN3: view

Pathways by source for FBN3 Gene

Interacting Proteins for FBN3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000270509%0d%0a9606.ENSP00000261023%0d%0a9606.ENSP00000303351%0d%0a9606.ENSP00000252034%0d%0a9606.ENSP00000352455%0d%0a9606.ENSP00000325527%0d%0a
Selected Interacting proteins: ENSP00000270509 Q75N90-FBN3_HUMAN for FBN3 Gene via STRING IID MINT

Gene Ontology (GO) - Biological Process for FBN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009653 anatomical structure morphogenesis IBA --
GO:0090287 regulation of cellular response to growth factor stimulus IBA --
genes like me logo Genes that share ontologies with FBN3: view

No data available for SIGNOR curated interactions for FBN3 Gene

Drugs & Compounds for FBN3 Gene

Products:

  1. Drug

(1) Drugs for FBN3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with FBN3: view

Transcripts for FBN3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FBN3 Gene

(10) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(90) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FBN3 Gene

Fibrillin 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBN3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - -
SP2: -
SP3:
SP4:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51a ·
SP1:
SP2:
SP3:
SP4: -

ExUns: 51b ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for FBN3 Gene

GeneLoc Exon Structure for
FBN3
ECgene alternative splicing isoforms for
FBN3

Expression for FBN3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBN3 Gene

mRNA expression in normal human tissues for FBN3 Gene
mRNA expression by BioGPS for FBN3 GenemRNA expression by GTEx for FBN3 Gene

mRNA differential expression in normal tissues according to GTEx for FBN3 Gene

This gene is overexpressed in Minor Salivary Gland (x9.2), Kidney - Cortex (x5.1), and Thyroid (x5.0).

Protein differential expression in normal tissues from HIPED for FBN3 Gene

This gene is overexpressed in Amniocyte (59.3) and Bone marrow mesenchymal stem cell (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FBN3 Gene



Protein tissue co-expression partners for FBN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBN3 Gene:

FBN3

SOURCE GeneReport for Unigene cluster for FBN3 Gene:

Hs.370362

mRNA Expression by UniProt/SwissProt for FBN3 Gene:

Q75N90-FBN3_HUMAN
Tissue specificity: Predominantly expressed in connective tissues such as skeletal muscle, tendon, skin, perichondrium and periosteum. Highly expressed in fetal lung, brain, kidney. Expressed at low level in prostate, testis, mammary gland, uterus, ovary, placenta, bladder, adrenal gland, thyroid, fetal thymus, fetal liver, liver, fetal heart and heart.

Evidence on tissue expression from TISSUES for FBN3 Gene

  • Nervous system(4.1)
  • Pancreas(2.9)
genes like me logo Genes that share expression patterns with FBN3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBN3 Gene

Orthologs for FBN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FBN3 34 35
  • 98.31 (n)
dog
(Canis familiaris)
 Mammalia FBN3 34 35
  • 86.02 (n)
cow
(Bos Taurus)
 Mammalia FBN3 34 35
  • 85.21 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia FBN3 35
  • 72 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia FBN3 35
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FBN3 34 35
  • 73.27 (n)
lizard
(Anolis carolinensis)
 Reptilia FBN3 35
  • 72 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii fbn2b 34
  • 69.07 (n)
fbn1 35
  • 53 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 43 (a)
 OneToMany
Species where no ortholog for FBN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBN3 Gene

ENSEMBL:
Gene Tree for FBN3 (if available)
TreeFam:
Gene Tree for FBN3 (if available)

Paralogs for FBN3 Gene

Paralogs for FBN3 Gene

(21) SIMAP similar genes for FBN3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FBN3: view

Variants for FBN3 Gene

Sequence variations from dbSNP and Humsavar for FBN3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000010403 -- 8,068,176(+) GGTCA(A/G)GAGAT intron-variant
rs1000077154 -- 8,146,435(+) CTGTG(A/G)GTTGG intron-variant
rs1000105578 -- 8,135,209(+) CCTGG(C/G)CTCAA intron-variant
rs1000108382 -- 8,099,237(+) AGGTG(A/G)TGACT intron-variant
rs1000127667 -- 8,110,587(+) ACCTG(A/C)CCATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBN3 Gene

Variant ID Type Subtype PubMed ID
dgv618e199 CNV deletion 23128226
esv1031279 CNV insertion 17803354
esv1156835 CNV deletion 17803354
esv2670077 CNV deletion 23128226
esv2718115 CNV deletion 23290073
esv2718116 CNV deletion 23290073
esv2718118 CNV deletion 23290073
esv3643602 CNV loss 21293372
esv3643603 CNV loss 21293372
esv3643604 CNV loss 21293372
nsv1072856 CNV deletion 25765185
nsv1077683 CNV insertion 25765185
nsv1111164 CNV tandem duplication 24896259
nsv1127647 CNV deletion 24896259
nsv1134751 CNV deletion 24896259
nsv1140318 OTHER inversion 24896259
nsv1149429 CNV duplication 26484159
nsv1160574 CNV deletion 26073780
nsv469677 CNV loss 16826518
nsv498889 CNV loss 21111241
nsv518595 CNV loss 19592680
nsv833734 CNV loss 17160897

Variation tolerance for FBN3 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 29.49; 99.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBN3 Gene

Human Gene Mutation Database (HGMD)
FBN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBN3 Gene

Disorders for FBN3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FBN3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
weill-marchesani syndrome
  • congenital mesodermal dystrophy
weill-marchesani syndrome 1, recessive
  • weill-marchesani syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FBN3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FBN3

Genetic Association Database (GAD)
FBN3
Human Genome Epidemiology (HuGE) Navigator
FBN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBN3
genes like me logo Genes that share disorders with FBN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBN3 Gene

Publications for FBN3 Gene

  1. Family-based analysis of candidate genes for polycystic ovary syndrome. (PMID: 20200332) Ewens K.G. … Spielman R.S. (J. Clin. Endocrinol. Metab. 2010) 3 22 46 64
  2. Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries. (PMID: 19692420) Prodoehl M.J. … Rodgers R.J. (Mol. Hum. Reprod. 2009) 3 22 46 64
  3. Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype. (PMID: 17785364) Urbanek M. … Dunaif A. (J. Clin. Endocrinol. Metab. 2007) 3 22 46 64
  4. Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. (PMID: 14962672) Corson G.M. … Sakai L.Y. (Genomics 2004) 3 4 22 64
  5. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. (PMID: 15221638) Uyeda T. … Ito E. (J. Hum. Genet. 2004) 3 4 22 64

Products for FBN3 Gene

Sources for FBN3 Gene

Content
Loading form....