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Aliases for FBN2 Gene

Aliases for FBN2 Gene

  • Fibrillin 2 2 3
  • Fibrillin 5 2 3
  • CCA 3 6
  • Congenital Contractural Arachnodactyly 2
  • Fibrillin-2 3
  • EOMD 3
  • DA9 3

External Ids for FBN2 Gene

Previous Symbols for FBN2 Gene

  • CCA

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 macular degeneration, early-onset and contractural arachnodactyly, congenital. 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 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

Genomic Location for FBN2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBN2 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr51, Asn492, Thr1066, Asn1112, Asn1414, Asn1529, Asn1625, Asn1714, Asn1745, Asn1756, Asn1945, Asn2120, Asn2225, and Asn2808

Other Protein References for FBN2 Gene

No data available for DME Specific Peptides for FBN2 Gene

Domains for FBN2 Gene

UniProtKB/Swiss-Prot:

FBN2_HUMAN
Domain:
  • Contains 47 EGF-like domains.:
    • P35556
  • Contains 9 TB (TGF-beta binding) domains.:
    • P35556
Family:
  • Belongs to the fibrillin family.:
    • P35556
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:0005201 extracellular matrix structural constituent IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12429738
genes like me logo Genes that share ontologies with FBN2: view
genes like me logo Genes that share phenotypes with FBN2: view

Animal Models for FBN2 Gene

MGI Knock Outs for FBN2:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril TAS 20855508
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix TAS 8120105
GO:0016020 membrane --
GO:0031012 extracellular matrix IDA 23658023
genes like me logo Genes that share ontologies with FBN2: view

Pathways for FBN2 Gene

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

Pathways by source for FBN2 Gene

Gene Ontology (GO) - Biological Process for FBN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009653 anatomical structure morphogenesis TAS 7493032
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030326 embryonic limb morphogenesis IEA --
GO:0030501 positive regulation of bone mineralization ISS --
genes like me logo Genes that share ontologies with FBN2: view

Compounds for FBN2 Gene

(1) HMDB Compounds for FBN2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(4) Novoseek inferred chemical compound relationships for FBN2 Gene

Compound -log(P) Hits PubMed IDs
5-aza-2deoxycytidine 51 2
proline 4.74 2
calcium 0 1
cysteine 0 2
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

Integrated Proteomics: protein expression 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 expressions with FBN2: view

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 36
  • 99.6 (n)
  • 99.76 (a)
FBN2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBN2 36
  • 91.64 (n)
  • 97.77 (a)
FBN2 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBN2 36
  • 91.47 (n)
  • 97.46 (a)
FBN2 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbn2 36
  • 87.5 (n)
  • 96.49 (a)
Fbn2 16
Fbn2 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 28 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Fbn2 36
  • 87.15 (n)
  • 95.66 (a)
chicken
(Gallus gallus)
Aves FBN2 36
  • 82.31 (n)
  • 92.01 (a)
FBN2 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBN2 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbn2 36
  • 77.19 (n)
  • 85.52 (a)
Str.12442 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010021 36
  • 42.69 (n)
  • 32.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7526 38
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK783.1 38
  • 28 (a)
B0393.5 38
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs7288 -- 128,258,178(-) GACCA(A/G)TGACC utr-variant-3-prime
rs13305 -- 128,258,722(+) CTTCA(A/T)CTTCT utr-variant-3-prime
rs26023 -- 128,302,772(+) ATTCA(A/C/T)GAGTA intron-variant
rs26024 -- 128,360,329(+) AATAC(A/C)TTTGA intron-variant
rs26025 -- 128,358,763(+) CTAAG(A/G)ACAGA intron-variant

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

Relevant External Links for FBN2 Gene

HapMap Linkage Disequilibrium report
FBN2
Human Gene Mutation Database (HGMD)
FBN2
Locus Specific Mutation Databases (LSDB)
FBN2

Disorders for FBN2 Gene

(1) OMIM Diseases for FBN2 Gene (612570)

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: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.

(11) Novoseek inferred disease relationships for FBN2 Gene

Disease -log(P) Hits PubMed IDs
arachnodactyly 97.7 24
marfan syndrome 88.1 8
aortic root dilatation 79.6 1
heritable connective tissue disorder 73.5 1
connective tissue diseases 69.9 1

Relevant External Links for FBN2

GeneTests
FBN2
GeneReviews
FBN2
Genetic Association Database (GAD)
FBN2
Human Genome Epidemiology (HuGE) Navigator
FBN2
genes like me logo Genes that share disorders with FBN2: view

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
  2. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. (PMID: 7493032) Putnam E.A. … Milewicz D.M. (Nat. Genet. 1995) 3 4 23
  3. A single mutation that results in an Asp-to-His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. (PMID: 9737771) Babcock D. … Maslen C. (Hum. Genet. 1998) 3 4 23
  4. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. (PMID: 10797416) Belleh S. … Godfrey M. (Am. J. Med. Genet. 2000) 3 4 23
  5. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (PMID: 11754102) Gupta P.A. … Milewicz D.M. (Hum. Mutat. 2002) 3 4 23

Products for FBN2 Gene

Sources for FBN2 Gene

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