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Aliases for FBLN2 Gene

Aliases for FBLN2 Gene

  • Fibulin 2 2 3 5
  • FIBL-2 3 4

External Ids for FBLN2 Gene

Previous GeneCards Identifiers for FBLN2 Gene

  • GC03P013541

Summaries for FBLN2 Gene

Entrez Gene Summary for FBLN2 Gene

  • This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBLN2 Gene

FBLN2 (Fibulin 2) is a Protein Coding gene. Diseases associated with FBLN2 include Marfan Syndrome Type 2 and Familial Osteochondritis Dissecans. Among its related pathways are Elastic fibre formation and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and extracellular matrix binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot for FBLN2 Gene

  • Its binding to fibronectin and some other ligands is calcium dependent.

Gene Wiki entry for FBLN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLN2 Gene

Genomics for FBLN2 Gene

Regulatory Elements for FBLN2 Gene

Enhancers for FBLN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FBLN2 on UCSC Golden Path with GeneCards custom track

Promoters for FBLN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FBLN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FBLN2 Gene

Chromosome:
3
Start:
13,549,125 bp from pter
End:
13,638,422 bp from pter
Size:
89,298 bases
Orientation:
Plus strand

Genomic View for FBLN2 Gene

Genes around FBLN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBLN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBLN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLN2 Gene

Proteins for FBLN2 Gene

  • Protein details for FBLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98095-FBLN2_HUMAN
    Recommended name:
    Fibulin-2
    Protein Accession:
    P98095
    Secondary Accessions:
    • B7Z9C5
    • Q8IUI0
    • Q8IUI1

    Protein attributes for FBLN2 Gene

    Size:
    1184 amino acids
    Molecular mass:
    126573 Da
    Quaternary structure:
    • Homotrimer; disulfide-linked. Interacts with LAMA2 (By similarity).

    Alternative splice isoforms for FBLN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBLN2 Gene

Proteomics data for FBLN2 Gene at MOPED

Post-translational modifications for FBLN2 Gene

  • O-glycosylated with core 1 or possibly core 8 glycans. It is unsure if the O-glycosylation is on Thr-347 or Ser-348.
  • Glycosylation at Asn 180, Thr 347, Ser 348, Thr 357, Thr 370, Asn 507, and Asn 1035
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBLN2 Gene

Domains & Families for FBLN2 Gene

Gene Families for FBLN2 Gene

Suggested Antigen Peptide Sequences for FBLN2 Gene

Graphical View of Domain Structure for InterPro Entry

P98095

UniProtKB/Swiss-Prot:

FBLN2_HUMAN :
  • Contains 3 anaphylatoxin-like domains.
  • Belongs to the fibulin family.
Domain:
  • Contains 3 anaphylatoxin-like domains.
  • Contains 10 EGF-like domains.
Family:
  • Belongs to the fibulin family.
genes like me logo Genes that share domains with FBLN2: view

Function for FBLN2 Gene

Molecular function for FBLN2 Gene

GENATLAS Biochemistry:
fibulin 2,calcium binding,extracellular matrix protein,expressed in heart tissue,located in the embryonic endocardial cushion tissue and predominantly in the valves,also expressed in skin,perichondrium,elastic intima of blood vessels and kidney glomerulus and colocalizing with FBN1 in these tissues with different variants
UniProtKB/Swiss-Prot Function:
Its binding to fibronectin and some other ligands is calcium dependent.

Gene Ontology (GO) - Molecular Function for FBLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with FBLN2: view
genes like me logo Genes that share phenotypes with FBLN2: view

Animal Models for FBLN2 Gene

MGI Knock Outs for FBLN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for FBLN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBLN2 Gene

Localization for FBLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLN2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBLN2 Gene COMPARTMENTS Subcellular localization image for FBLN2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for FBLN2 Gene

Pathways & Interactions for FBLN2 Gene

genes like me logo Genes that share pathways with FBLN2: view

Pathways by source for FBLN2 Gene

Gene Ontology (GO) - Biological Process for FBLN2 Gene

None

No data available for SIGNOR curated interactions for FBLN2 Gene

Drugs & Compounds for FBLN2 Gene

(2) Drugs for FBLN2 Gene - From: HMDB and Novoseek

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

(2) Additional Compounds for FBLN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBLN2: view

Transcripts for FBLN2 Gene

Unigene Clusters for FBLN2 Gene

Fibulin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBLN2 Gene

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

Relevant External Links for FBLN2 Gene

GeneLoc Exon Structure for
FBLN2
ECgene alternative splicing isoforms for
FBLN2

Expression for FBLN2 Gene

mRNA expression in normal human tissues for FBLN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBLN2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x7.0).

Protein differential expression in normal tissues from HIPED for FBLN2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (17.1) and Testis (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBLN2 Gene



SOURCE GeneReport for Unigene cluster for FBLN2 Gene Hs.198862

mRNA Expression by UniProt/SwissProt for FBLN2 Gene

P98095-FBLN2_HUMAN
Tissue specificity: Component of both basement membranes and other connective tissues. Expressed in heart, placenta and ovary.
genes like me logo Genes that share expression patterns with FBLN2: view

Protein tissue co-expression partners for FBLN2 Gene

- Elite partner

Primer Products

Orthologs for FBLN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FBLN2 35
  • 84.05 (n)
  • 84.03 (a)
FBLN2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBLN2 35
  • 85.65 (n)
  • 86.11 (a)
FBLN2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbln2 35
  • 81.55 (n)
  • 82.4 (a)
Fbln2 16
Fbln2 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FBLN2 35
  • 98.86 (n)
  • 98.86 (a)
FBLN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbln2 35
  • 81.81 (n)
  • 82.43 (a)
oppossum
(Monodelphis domestica)
Mammalia FBLN2 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves FBLN2 35
  • 69.28 (n)
  • 69.39 (a)
FBLN2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBLN2 36
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fbln2 35
  • 60.06 (n)
  • 55.67 (a)
fbln2 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011322 35
  • 46.17 (n)
  • 35.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31999 35
  • 43.98 (n)
  • 36.4 (a)
worm
(Caenorhabditis elegans)
Secernentea B0393.5 37
  • 36 (a)
him-4 36
  • 5 (a)
OneToMany
Species with no ortholog for FBLN2:
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for FBLN2 Gene

ENSEMBL:
Gene Tree for FBLN2 (if available)
TreeFam:
Gene Tree for FBLN2 (if available)

Paralogs for FBLN2 Gene

Paralogs for FBLN2 Gene

genes like me logo Genes that share paralogs with FBLN2: view

Variants for FBLN2 Gene

Sequence variations from dbSNP and Humsavar for FBLN2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1061375 - 13,637,703(+) TTCAC(A/G)GGGGA reference, synonymous-codon
rs3732666 - 13,571,436(-) CAGGC(C/T)CGGTG reference, missense
rs3796318 - 13,571,515(-) GGATG(G/T)TGTGG reference, missense
rs9843344 - 13,629,036(+) ATGGG(A/G)CCAAG reference, missense
rs60850813 - 13,570,488(+) ACTGC(A/G)TTGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FBLN2 Gene

Variant ID Type Subtype PubMed ID
nsv876550 CNV Loss 21882294
nsv470416 CNV Loss 18288195
nsv876552 CNV Loss 21882294
nsv3707 CNV Insertion 18451855
esv1004489 CNV Deletion 20482838
dgv5109n71 CNV Gain 21882294
esv1004545 CNV Deletion 20482838
dgv5110n71 CNV Gain 21882294
dgv5111n71 CNV Gain 21882294
nsv526900 CNV Loss 19592680
nsv876564 CNV Gain 21882294
nsv876567 CNV Loss 21882294
nsv3708 CNV Insertion 18451855
esv2724942 CNV Deletion 23290073

Variation tolerance for FBLN2 Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.45; 71.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBLN2 Gene

Human Gene Mutation Database (HGMD)
FBLN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN2 Gene

Disorders for FBLN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FBLN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
marfan syndrome type 2
  • mfs2
familial osteochondritis dissecans
  • obsessive-compulsive disorder
osteochondritis dissecans
  • ocd
- elite association - COSMIC cancer census association via MalaCards
Search FBLN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FBLN2

Genetic Association Database (GAD)
FBLN2
Human Genome Epidemiology (HuGE) Navigator
FBLN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBLN2
genes like me logo Genes that share disorders with FBLN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBLN2 Gene

Publications for FBLN2 Gene

  1. Fibulin-2 (FBLN2): human cDNA sequence, mRNA expression, and mapping of the gene on human and mouse chromosomes. (PMID: 7806230) Zhang R.-Z. … Chu M.-L. (Genomics 1994) 2 3 4 23 67
  2. Expression of ECM proteins fibulin-1 and -2 in acute and chronic liver disease and in cultured rat liver cells. (PMID: 19609566) Piscaglia F. … Ramadori G. (Cell Tissue Res. 2009) 3 23
  3. The proteoglycans aggrecan and Versican form networks with fibulin-2 through their lectin domain binding. (PMID: 11038354) Olin A.I. … Aspberg A. (J. Biol. Chem. 2001) 3 23
  4. Mapping of binding sites for nidogens, fibulin-2, fibronectin and heparin to different IG modules of perlecan. (PMID: 11493006) Hopf M. … Timpl R. (J. Mol. Biol. 2001) 3 23
  5. Increased deposition of fibulin-2 in solar elastosis and its colocalization with elastic fibres. (PMID: 11531782) Hunzelmann N. … Krieg T. (Br. J. Dermatol. 2001) 3 23

Products for FBLN2 Gene

Sources for FBLN2 Gene

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