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Aliases for FBN3 Gene

Aliases for FBN3 Gene

  • Fibrillin 3 2 3
  • 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 protein that belongs to the fibrillin gene 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. While several transcript variants may exist for this gene, their full-length natures have not been described to date. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBN3 Gene

FBN3 (Fibrillin 3) is a Protein Coding gene. Diseases associated with FBN3 include weill-marchesani syndrome. Among its related pathways are ERK Signaling 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 NPNT.

UniProtKB/Swiss-Prot for FBN3 Gene

  • 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBN3 Gene

Genomics for FBN3 Gene

Regulatory Elements for FBN3 Gene

Genomic Location for FBN3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for FBN3 Gene

Proteomics data for FBN3 Gene at MOPED

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

Other Protein References for FBN3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for FBN3 Gene

Domains for FBN3 Gene

Suggested Antigen Peptide Sequences for FBN3 Gene

Graphical View of Domain Structure for InterPro Entry

Q75N90

UniProtKB/Swiss-Prot:

FBN3_HUMAN :
  • Q75N90
Domain:
  • Contains 44 EGF-like domains.
  • Contains 9 TB (TGF-beta binding) domains.
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

Molecular function for FBN3 Gene

UniProtKB/Swiss-Prot 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-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 --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with FBN3: view

Phenotypes for FBN3 Gene

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

Animal Model Products

miRNA for FBN3 Gene

miRTarBase miRNAs that target FBN3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for FBN3 Gene COMPARTMENTS Subcellular localization image for FBN3 gene
Compartment Confidence
extracellular 5
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FBN3 Gene

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

Pathways 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

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

Compounds for FBN3 Gene

(1) HMDB Compounds for FBN3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with FBN3: view

Transcripts for FBN3 Gene

Unigene Clusters for FBN3 Gene

Fibrillin 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FBN3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FBN3
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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

mRNA expression in normal human tissues for FBN3 Gene

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

This gene is overexpressed in Minor Salivary Gland (9.2), Kidney - Cortex (5.1), and Thyroid (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FBN3 Gene

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.
genes like me logo Genes that share expressions with FBN3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 98.31 (n)
  • 97.6 (a)
FBN3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBN3 35
  • 85.21 (n)
  • 85.43 (a)
FBN3 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBN3 35
  • 86.02 (n)
  • 85.71 (a)
FBN3 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBN3 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBN3 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBN3 35
  • 73.27 (n)
  • 73.62 (a)
FBN3 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBN3 36
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fbn1 36
  • 53 (a)
ManyToMany
fbn2b 35
  • 69.07 (n)
  • 69.78 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for FBN3:
  • 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

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 MAF
rs899207 -- 8,108,619(+) ACACA(C/T)GCATA intron-variant
rs899208 -- 8,145,042(+) AAGCC(C/T)GTCTT intron-variant
rs899210 -- 8,145,122(+) TAATC(C/T)GAGCG intron-variant
rs899211 -- 8,146,113(+) GAGGC(C/T)GCTTC intron-variant
rs985503 -- 8,078,915(-) agtct(A/T)agcta intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833734 CNV Loss 17160897
nsv910994 CNV Loss 21882294
nsv910995 CNV Loss 21882294
esv1031279 CNV Insertion 17803354
dgv618e199 CNV Deletion 23128226
esv2718115 CNV Deletion 23290073
esv2718116 CNV Deletion 23290073
esv2718118 CNV Deletion 23290073
esv1156835 CNV Deletion 17803354
nsv469677 CNV Loss 16826518
nsv518595 CNV Loss 19592680
esv2670077 CNV Deletion 23128226
nsv498889 CNV Loss 21111241

Relevant External Links for FBN3 Gene

HapMap Linkage Disequilibrium report
FBN3
Human Gene Mutation Database (HGMD)
FBN3

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

Disorders for FBN3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for FBN3 Gene including...

Search for FBN3 Gene in MalaCards »

(2) University of Copenhagen DISEASES for FBN3 Gene

Relevant External Links for FBN3

Genetic Association Database (GAD)
FBN3
Human Genome Epidemiology (HuGE) Navigator
FBN3
genes like me logo Genes that share disorders with FBN3: view

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

Publications for FBN3 Gene

  1. 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 23 48
  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 23 48
  3. Family-based analysis of candidate genes for polycystic ovary syndrome. (PMID: 20200332) Ewens K.G. … Spielman R.S. (J. Clin. Endocrinol. Metab. 2010) 3 23 48
  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 23
  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 23

Products for FBN3 Gene

Sources for FBN3 Gene

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