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Aliases for FBLN2 Gene

Aliases for FBLN2 Gene

  • Fibulin 2 2 3 5
  • 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 Familial Osteochondritis Dissecans and 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 FBLN1.

UniProtKB/Swiss-Prot for FBLN2 Gene

  • Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).

Gene Wiki entry for FBLN2 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G013532 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.3 -12.5 -12508 7.7 HDGF ATF1 PKNOX1 ARNT YBX1 BRCA1 ZBTB7B TCF12 FOS ZNF263 LINC00620 FBLN2 HDAC11 PIR59377
GH03G013647 1.2 Ensembl ENCODE 4.9 +99.1 99116 1.9 HDGF PKNOX1 ATF1 ARNT ARID4B BRCA1 ZNF2 ZNF48 ZNF121 ZNF143 LINC00620 FBLN2 GC03M014224
GH03G013568 0.6 dbSUPER 5.6 +19.9 19942 1.7 BCOR KLF1 NRF1 ZMYM3 ZNF623 ZFHX2 ZNF341 KDM1A EGR2 FBLN2 GC03P013574
GH03G013557 0.9 FANTOM5 dbSUPER 2.6 +8.7 8673 0.4 USF1 L3MBTL2 BHLHE40 MAFG USF2 ZFHX2 RAD51 GLIS1 EMSY EGR2 FBLN2 GC03P013574
GH03G013546 1.5 Ensembl ENCODE dbSUPER 0.7 -2.3 -2322 1.5 PKNOX1 ATF1 ARNT TCF12 ELK1 GATA2 FOS JUNB NCOA1 ZNF518A HDAC11 HDAC11-AS1 VN1R20P FBLN2 PIR59377
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000148830 175 601 FOXM1 POLR2A PATZ1 KDM1A RBBP5 ZBTB7A EZH2

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). Interacts with FBN1 (via N-terminal domain). Forms a ternary complex with ELN and FBN1 (PubMed:17255108).

    Alternative splice isoforms for FBLN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBLN2 Gene

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, isoforms=2347, isoforms=2348, Thr357, Thr370, Asn507, and isoforms=21035
  • 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 :
  • Belongs to the fibulin family.
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. May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).

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:0050840 extracellular matrix 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

Inhibitory RNA Products

Cell Line Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBLN2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 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,TAS --
GO:0005615 extracellular space IEA --
GO:0031012 colocalizes_with extracellular matrix ISS,IDA 22261194
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FBLN2: view

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

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FBLN2 Gene



Protein tissue co-expression partners for FBLN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBLN2 Gene:

FBLN2

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.

Evidence on tissue expression from TISSUES for FBLN2 Gene

  • Liver(4.4)
  • Muscle(2.5)
  • Heart(2.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with FBLN2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FBLN2 Gene

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 34 35
  • 98.86 (n)
dog
(Canis familiaris)
Mammalia FBLN2 34 35
  • 85.65 (n)
cow
(Bos Taurus)
Mammalia FBLN2 34 35
  • 84.05 (n)
rat
(Rattus norvegicus)
Mammalia Fbln2 34
  • 81.81 (n)
mouse
(Mus musculus)
Mammalia Fbln2 34 16 35
  • 81.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FBLN2 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBLN2 34 35
  • 69.28 (n)
lizard
(Anolis carolinensis)
Reptilia FBLN2 35
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fbln2 34 35
  • 60.06 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011322 34
  • 46.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31999 34
  • 43.98 (n)
worm
(Caenorhabditis elegans)
Secernentea B0393.5 36
  • 36 (a)
him-4 35
  • 5 (a)
OneToMany
Species where no ortholog for FBLN2 was found in the sources mined by GeneCards:
  • 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
rs1000010557 -- 13,584,391(+) GACTC(C/T)AACCC intron-variant
rs1000017389 -- 13,615,351(+) CACCA(A/G)CCCAG intron-variant
rs1000084640 -- 13,567,586(+) CTCCT(G/T)ACCTC intron-variant, upstream-variant-2KB
rs1000112278 -- 13,550,878(+) TGGCT(C/G)TCACC intron-variant
rs1000245817 -- 13,563,095(+) GATGC(A/G)CAAAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1362e212 CNV loss 25503493
dgv8231n54 CNV loss 21841781
dgv870e214 CNV gain 21293372
esv1004489 CNV deletion 20482838
esv1004545 CNV deletion 20482838
esv2724942 CNV deletion 23290073
esv3568625 CNV loss 25503493
esv3595351 CNV gain 21293372
nsv1011766 CNV gain 25217958
nsv3707 CNV insertion 18451855
nsv3708 CNV insertion 18451855
nsv470416 CNV loss 18288195
nsv526900 CNV loss 19592680

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBLN2

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

Disorders for FBLN2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
familial osteochondritis dissecans
  • osteochondritis dissecans, short stature, and early-onset osteoarthritis
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 22 64
  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 22 64
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  4. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 46 64
  5. 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 22 64

Products for FBLN2 Gene

  • Cloud-Clone Corp. Antibodies for FBLN2
  • Cloud-Clone Corp. Proteins for FBLN2
  • Cloud-Clone Corp Assay Kits for FBLN2

Sources for FBLN2 Gene

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