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Aliases for FBN2 Gene

Aliases for FBN2 Gene

  • Fibrillin 2 2 3 5
  • Fibrillin 5 2 3
  • Congenital Contractural Arachnodactyly 2
  • EOMD 3
  • DA9 3
  • CCA 3

External Ids for FBN2 Gene

Previous HGNC Symbols for FBN2 Gene

  • CCA

Previous GeneCards Identifiers for FBN2 Gene

  • GC05M127131
  • GC05M128029
  • GC05M127624
  • GC05M127669
  • GC05M127621
  • GC05M122784

Summaries for FBN2 Gene

Entrez Gene Summary for FBN2 Gene

  • The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBN2 Gene

FBN2 (Fibrillin 2) is a Protein Coding gene. Diseases associated with FBN2 include contractural arachnodactyly, congenital and macular degeneration, early-onset. Among its related pathways are Degradation of the extracellular matrix 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 LTBP3.

UniProtKB/Swiss-Prot for FBN2 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-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBN2 Gene

Genomics for FBN2 Gene

Regulatory Elements for FBN2 Gene

Genomic Location for FBN2 Gene

Chromosome:
5
Start:
128,257,909 bp from pter
End:
128,659,185 bp from pter
Size:
401,277 bases
Orientation:
Minus strand

Genomic View for FBN2 Gene

Genes around FBN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBN2 Gene

Proteins for FBN2 Gene

  • Protein details for FBN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35556-FBN2_HUMAN
    Recommended name:
    Fibrillin-2
    Protein Accession:
    P35556
    Secondary Accessions:
    • B4DU01
    • Q59ES6

    Protein attributes for FBN2 Gene

    Size:
    2912 amino acids
    Molecular mass:
    314775 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FBN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBN2 Gene

Proteomics data for FBN2 Gene at MOPED

Post-translational modifications for FBN2 Gene

  • Glycosylation at Thr 51, Asn 492, Thr 1066, Asn 1112, Asn 1414, Asn 1529, Asn 1625, Asn 1714, Asn 1745, Asn 1756, Asn 1945, Asn 2120, Asn 2225, and Asn 2808
  • Modification sites at PhosphoSitePlus

Other Protein References for FBN2 Gene

Antibody Products

No data available for DME Specific Peptides for FBN2 Gene

Domains & Families for FBN2 Gene

Suggested Antigen Peptide Sequences for FBN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35556

UniProtKB/Swiss-Prot:

FBN2_HUMAN :
  • Contains 47 EGF-like domains.
  • Belongs to the fibrillin family.
Domain:
  • Contains 47 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 FBN2: view

No data available for Gene Families for FBN2 Gene

Function for FBN2 Gene

Molecular function for FBN2 Gene

GENATLAS Biochemistry:
fibrillin 2,312kDa,major constituent of extracellular microfibrils
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-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).

Gene Ontology (GO) - Molecular Function for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0030023 extracellular matrix constituent conferring elasticity IC 8120105
genes like me logo Genes that share ontologies with FBN2: view
genes like me logo Genes that share phenotypes with FBN2: view

Human Phenotype Ontology for FBN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FBN2 Gene

MGI Knock Outs for FBN2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FBN2 Gene

Localization for FBN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBN2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBN2 Gene COMPARTMENTS Subcellular localization image for FBN2 gene
Compartment Confidence
extracellular 5
cytosol 2
nucleus 2
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for FBN2 Gene

Pathways & Interactions for FBN2 Gene

genes like me logo Genes that share pathways with FBN2: view

Gene Ontology (GO) - Biological Process for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
GO:0030326 embryonic limb morphogenesis IEA --
GO:0035583 sequestering of TGFbeta in extracellular matrix ISS --
GO:0048048 embryonic eye morphogenesis IEP 25406291
GO:0090287 regulation of cellular response to growth factor stimulus IBA --
genes like me logo Genes that share ontologies with FBN2: view

No data available for SIGNOR curated interactions for FBN2 Gene

Drugs & Compounds for FBN2 Gene

(3) Drugs for FBN2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for FBN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBN2: view

Transcripts for FBN2 Gene

Unigene Clusters for FBN2 Gene

Fibrillin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBN2 Gene

No ASD Table

Relevant External Links for FBN2 Gene

GeneLoc Exon Structure for
FBN2
ECgene alternative splicing isoforms for
FBN2

Expression for FBN2 Gene

mRNA expression in normal human tissues for FBN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBN2 Gene

This gene is overexpressed in Adrenal (35.7) and Amniocyte (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBN2 Gene



SOURCE GeneReport for Unigene cluster for FBN2 Gene Hs.519294

mRNA Expression by UniProt/SwissProt for FBN2 Gene

P35556-FBN2_HUMAN
Tissue specificity: Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruchs membrane and in the sclera. Not expressed in the neural retina.
genes like me logo Genes that share expression patterns with FBN2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for FBN2 Gene

Orthologs for FBN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBN2 35
  • 99.6 (n)
  • 99.76 (a)
FBN2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBN2 36
  • 76 (a)
OneToOne
FBN2 35
  • 91.64 (n)
  • 97.77 (a)
dog
(Canis familiaris)
Mammalia FBN2 35
  • 91.47 (n)
  • 97.46 (a)
FBN2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbn2 16
Fbn2 36
  • 96 (a)
OneToOne
Fbn2 35
  • 87.5 (n)
  • 96.49 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 28 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Fbn2 35
  • 87.15 (n)
  • 95.66 (a)
chicken
(Gallus gallus)
Aves FBN2 35
  • 82.31 (n)
  • 92.01 (a)
FBN2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBN2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbn2 35
  • 77.19 (n)
  • 85.52 (a)
Str.12442 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010021 35
  • 42.69 (n)
  • 32.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7526 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea B0393.5 37
  • 38 (a)
ZK783.1 37
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for FBN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for FBN2 Gene

ENSEMBL:
Gene Tree for FBN2 (if available)
TreeFam:
Gene Tree for FBN2 (if available)

Paralogs for FBN2 Gene

Paralogs for FBN2 Gene

genes like me logo Genes that share paralogs with FBN2: view

Variants for FBN2 Gene

Sequence variations from dbSNP and Humsavar for FBN2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs154001 - 128,349,443(+) ACAAA(C/T)GCCAG reference, missense
VAR_002350 Arthrogryposis, distal, 9 (DA9)
VAR_002351 Arthrogryposis, distal, 9 (DA9)
VAR_010739 Arthrogryposis, distal, 9 (DA9)
VAR_010740 Arthrogryposis, distal, 9 (DA9)

Structural Variations from Database of Genomic Variants (DGV) for FBN2 Gene

Variant ID Type Subtype PubMed ID
nsv830482 CNV Gain 17160897
nsv830483 CNV Gain 17160897
esv2674979 CNV Deletion 23128226
nsv4994 CNV Insertion 18451855

Variation tolerance for FBN2 Gene

Residual Variation Intolerance Score: 6.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.22; 92.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBN2 Gene

HapMap Linkage Disequilibrium report
FBN2
Human Gene Mutation Database (HGMD)
FBN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBN2 Gene

Disorders for FBN2 Gene

MalaCards: The human disease database

(17) MalaCards diseases for FBN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FBN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FBN2_HUMAN
  • Arthrogryposis, distal, 9 (DA9) [MIM:121050]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears. {ECO:0000269 PubMed:10797416, ECO:0000269 PubMed:11754102, ECO:0000269 PubMed:19006240, ECO:0000269 PubMed:20799338, ECO:0000269 PubMed:25834781, ECO:0000269 PubMed:7493032, ECO:0000269 PubMed:9714438, ECO:0000269 PubMed:9737771}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular degeneration, early-onset (EOMD) [MIM:616118]: An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity. {ECO:0000269 PubMed:24899048}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FBN2

Genetic Association Database (GAD)
FBN2
Human Genome Epidemiology (HuGE) Navigator
FBN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBN2
genes like me logo Genes that share disorders with FBN2: view

No data available for Genatlas for FBN2 Gene

Publications for FBN2 Gene

  1. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. (PMID: 8120105) Zhang H. … Ramirez F. (J. Cell Biol. 1994) 2 3 4 23 67
  2. Enhanced fibrillin-2 expression is a general feature of wound healing and sclerosis: potential alteration of cell attachment and storage of TGF-beta. (PMID: 20195245) Brinckmann J. … Reinhardt D.P. (Lab. Invest. 2010) 3 23
  3. A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. (PMID: 19473076) Chen Y. … Li H. (Genet Test Mol Biomarkers 2009) 3 23
  4. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. (PMID: 19006240) Callewaert B.L. … De Paepe A.M. (Hum. Mutat. 2009) 3 23
  5. Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma. (PMID: 19288010) Tsunoda S. … Drew P.A. (Oncol. Rep. 2009) 3 23

Products for FBN2 Gene

Sources for FBN2 Gene

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