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Aliases for FBLN2 Gene

Aliases for FBLN2 Gene

  • Fibulin 2 2 3
  • FIBL-2 3 4
  • Fibulin-2 3

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 osteochondritis dissecans and familial osteochondritis dissecans. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. 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

Genomic Location for FBLN2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn180, Thr347, Ser348, Thr357, Ser361, Thr370, Asn507, and Asn1035
  • Modification sites at PhosphoSitePlus

Other Protein References for FBLN2 Gene

No data available for DME Specific Peptides for FBLN2 Gene

Domains for FBLN2 Gene

Gene Families for FBLN2 Gene

HGNC:

Suggested Antigen Peptide Sequences for FBLN2 Gene

Graphical View of Domain Structure for InterPro Entry

P98095

UniProtKB/Swiss-Prot:

FBLN2_HUMAN :
  • P98095
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:0005201 extracellular matrix structural constituent TAS 7806230
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0050840 extracellular matrix binding IEA --
genes like me logo Genes that share ontologies with FBLN2: view

Phenotypes for FBLN2 Gene

MGI mutant phenotypes for FBLN2:
inferred from 1 alleles
GenomeRNAi human phenotypes for FBLN2:
genes like me logo Genes that share phenotypes with FBLN2: view

Animal Models for FBLN2 Gene

MGI Knock Outs for FBLN2:

miRNA for FBLN2 Gene

miRTarBase miRNAs that target FBLN2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for FBLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
GO:0031982 vesicle IDA 24769233
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FBLN2: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with FBLN2: view

Compounds for FBLN2 Gene

(1) HMDB Compounds for FBLN2 Gene

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

(4) Novoseek inferred chemical compound relationships for FBLN2 Gene

Compound -log(P) Hits PubMed IDs
neurocan 68.5 1
heparin 34.3 6
calcium 5.63 3
fibrinogen 2.85 1
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 (7.0).

Integrated Proteomics: protein expression 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 expressions with FBLN2: view

Orthologs for FBLN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBLN2 35
  • 98.86 (n)
  • 98.86 (a)
FBLN2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia FBLN2 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 36 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fbln2 35
  • 81.81 (n)
  • 82.43 (a)
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 him-4 36
  • 5 (a)
OneToMany
B0393.5 37
  • 36 (a)
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

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 MAF
rs7596 -- 13,638,355(-) TTTTT(A/T)TATAA utr-variant-3-prime
rs7820 -- 13,638,329(+) TTTAA(C/T)TATAA utr-variant-3-prime
rs12968 -- 13,638,208(+) CGCGA(A/C)CATGT utr-variant-3-prime
rs14468 -- 13,638,288(-) GAAAA(A/G)AATTA utr-variant-3-prime
rs746111 -- 13,595,926(-) GGCTA(A/T)CTTGG intron-variant

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

Relevant External Links for FBLN2 Gene

HapMap Linkage Disequilibrium report
FBLN2
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

MalaCards: The human disease database. (2) Diseases for FBLN2 Gene including...

Search for FBLN2 Gene in MalaCards »

(2) Novoseek inferred disease relationships for FBLN2 Gene

Disease -log(P) Hits PubMed IDs
solar elastosis 69 3
tumors 0 1

Relevant External Links for FBLN2

Genetic Association Database (GAD)
FBLN2
Human Genome Epidemiology (HuGE) Navigator
FBLN2
genes like me logo Genes that share disorders with FBLN2: view

No data available for UniProtKB/Swiss-Prot 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
  2. The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo. (PMID: 8737292) Miosge N. … Herken R. (Histochem. J. 1996) 3 4 23
  3. Structure and expression of fibulin-2, a novel extracellular matrix protein with multiple EGF-like repeats and consensus motifs for calcium binding. (PMID: 8245130) Pan T.C. … Chu M.L. (J. Cell Biol. 1993) 3 23
  4. Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues. (PMID: 8702639) Reinhardt D.P. … Sakai L.Y. (J. Biol. Chem. 1996) 3 23
  5. Binding of mouse and human fibulin-2 to extracellular matrix ligands. (PMID: 7500359) Sasaki T. … Timpl R. (J. Mol. Biol. 1995) 3 23

Products for FBLN2 Gene

Sources for FBLN2 Gene

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