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 potentia... See more...

Aliases for FBN3 Gene

Aliases for FBN3 Gene

  • Fibrillin 3 2 3 5
  • Fibrillin-3 3 4
  • 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 Marfan Syndrome. Among its related pathways are ERK Signaling and Hypothesized Pathways in Pathogenesis of Cardiovascular Disease. Gene Ontology (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 Summary 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.

Additional gene information for FBN3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBN3 Gene

Genomics for FBN3 Gene

GeneHancer (GH) Regulatory Elements for FBN3 Gene

Promoters and enhancers for FBN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J008147 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 544.6 +0.9 927 3.5 ZNF10 ZIC2 ZBTB26 ZNF662 HDAC2 ZNF341 RBM25 POLR2A EZH2 KDM1A FBN3 ZNF558 ENSG00000269300 ELAVL1 HNRNPM ZNF317 RF00017-2789 lnc-KANK3-3
GH19J008155 Enhancer 1.1 Ensembl ENCODE 21.1 -5.2 -5169 1.8 CTCF NCOR1 KDM6A REST ZBTB25 TGIF2 TEAD1 HINFP ZBTB26 TBX3 NONHSAG024684.2 lnc-CERS4-4 lnc-CERS4-5 FBN3 lnc-KANK3-3
GH19J008143 Enhancer 0.7 Ensembl CraniofacialAtlas 22.2 +6.7 6691 2.6 ZMYM3 HIC1 GLIS1 TFAP4 ZNF48 ZFP3 PRDM10 SP5 HNRNPL HNF4G FBN3 MYO1F RF00017-2789 lnc-KANK3-3
GH19J008120 Enhancer 0.6 Ensembl ENCODE 24.3 +28.7 28691 1.8 ETS1 ATF4 ATF3 POU5F1 NANOG MNT FBN3 RF00017-2789 lnc-ELAVL1-3 lnc-KANK3-3
GH19J008158 Enhancer 1.1 Ensembl ENCODE 14.4 -9.0 -9024 0.8 CTCF ZSCAN5C ZNF639 GABPA REST MYC RAD21 CTBP1 TRIM22 SMC3 ZNF558 ELAVL1 FBN3 HNRNPM XAB2 MAP2K7 ENSG00000269300 ZNF317 lnc-CERS4-3 lnc-CERS4-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBN3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBN3

Top Transcription factor binding sites by QIAGEN in the FBN3 gene promoter:
  • NF-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-4a
  • SEF-1 (1)

Genomic Locations for FBN3 Gene

Genomic Locations for FBN3 Gene
chr19:8,065,402-8,149,592
(GRCh38/hg38)
Size:
84,191 bases
Orientation:
Minus strand
chr19:8,130,286-8,214,730
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for FBN3 Gene

Proteins for FBN3 Gene

  • 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=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for FBN3 Gene

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 Asn406, Asn1025, Asn1442, Asn1538, Asn1627, Asn1658, Asn1668, Asn1858, Asn2033, and Asn2713
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for FBN3 Gene

Domains & Families for FBN3 Gene

Gene Families for FBN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FBN3 Gene

Suggested Antigen Peptide Sequences for FBN3 Gene

GenScript: Design optimal peptide antigens:
  • Fibrillin 3 (A8KAY2_HUMAN)
  • Fibrillin-3 (FBN3_HUMAN)
  • Fibrillin-3 (Q86YS9_HUMAN)

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

Function for FBN3 Gene

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.

Phenotypes From GWAS Catalog for FBN3 Gene

Gene Ontology (GO) - Molecular Function for FBN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
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

CRISPR Products

miRNA for FBN3 Gene

miRTarBase miRNAs that target FBN3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBN3

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 4
plasma membrane 1
cytoskeleton 1
nucleus 1
lysosome 0

Gene Ontology (GO) - Cellular Components for FBN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with FBN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FBN3 Gene

Pathways & Interactions for FBN3 Gene

PathCards logo

SuperPathways for FBN3 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Phospholipase-C Pathway
.56
.56
4 Elastic fibre formation
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with FBN3: view

Pathways by source for FBN3 Gene

13 Qiagen pathways for FBN3 Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

Interacting Proteins for FBN3 Gene

;

Gene Ontology (GO) - Biological Process for FBN3 Gene

None

No data available for SIGNOR curated interactions for FBN3 Gene

Drugs & Compounds for FBN3 Gene

(4) Drugs for FBN3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with FBN3: view

Transcripts for FBN3 Gene

mRNA/cDNA for FBN3 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBN3

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

Expression for FBN3 Gene

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



Protein tissue co-expression partners for FBN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 98.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBN3 31 30
  • 86.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBN3 31 30
  • 85.21 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBN3 31
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBN3 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBN3 31 30
  • 73.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBN3 31
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fbn2b 30
  • 69.07 (n)
fbn1 31
  • 53 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FBN3: view image

Paralogs for FBN3 Gene

Paralogs for FBN3 Gene

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

  • FBN3_HUMAN
  • A8KAY2_HUMAN
  • M0QXL8_HUMAN
  • M0R2Q5_HUMAN
  • Q86YS9_HUMAN
genes like me logo Genes that share paralogs with FBN3: view

Variants for FBN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBN3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
681348 Likely Benign: not provided 8,109,759(-) G/C INTRON_VARIANT
707994 Benign: not provided 8,097,353(-) G/A SYNONYMOUS_VARIANT
708845 Likely Benign: not provided 8,096,941(-) C/T MISSENSE_VARIANT
709186 Likely Benign: not provided 8,138,230(-) A/G MISSENSE_VARIANT
709301 Benign: not provided 8,066,119(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FBN3 Gene

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)

Additional Variant Information for FBN3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FBN3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
weill-marchesani syndrome
  • wms
marfan syndrome
  • mfs
isolated ectopia lentis
  • familial ectopia lentis
scoliosis
- elite association - COSMIC cancer census association via MalaCards
Search FBN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBN3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues. (PMID: 14962672) Corson GM … Sakai LY (Genomics 2004) 2 3 4 23 54
  2. Family-based analysis of candidate genes for polycystic ovary syndrome. (PMID: 20200332) Ewens KG … Spielman RS (The Journal of clinical endocrinology and metabolism 2010) 3 23 41 54
  3. 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 MJ … Rodgers RJ (Molecular human reproduction 2009) 3 23 41 54
  4. Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype. (PMID: 17785364) Urbanek M … Dunaif A (The Journal of clinical endocrinology and metabolism 2007) 3 23 41 54
  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 (Journal of human genetics 2004) 3 4 23 54

Products for FBN3 Gene

  • Signalway ELISA kits for FBN3
  • Signalway Proteins for FBN3

Sources for FBN3 Gene